Identification Number:
DI 23022 TN 35
Intended Audience:See Transmittal Sheet
Originating Office:ORDP ODP
Title:Processing Quick Disability Determination (QDD) and Compassionate Allowance (CAL) in the Disability Determination Services (DDS)
Type:POMS Transmittals
Program:
Link To Reference:
 

PROGRAM OPERATIONS MANUAL SYSTEM
Part DI – Disability Insurance
Chapter 230 – Special Issues
Subchapter 22 – Processing Quick Disability Determination (QDD) and Compassionate Allowance (CAL) in the Disability Determination Services (DDS)
Transmittal No. 35, 08/31/2020

Audience

PSC: CS, DEC, DTE, IES, RECONR;
OCO-OEIO: CR, ERE, FCR, FDE, RECONE;
OCO-ODO: DE, DEC, DS, RECONE;
ODD-DDS: ADJ, DHU;

Originating Component

ODP

Effective Date

Upon Receipt

Background

This is a Quick Action Transmittal. These revisions do not change or introduce new policy or procedure.

 

Summary of Changes

DI 23022.085 Acute Leukemia

  • Added "ICD-10-CM" to section heading; and

  • Added ICD-10 code to "Diagnostic Testing, Physical Findings, and ICD-9-CM/ICD-10-CM" section

DI 23022.090 Adrenal Cancer

  • Formatted "Diagnostic testing" information into bulleted list;

  • Added "ICD-10-CM" to section heading; and

  • Added ICD-10 code to "Diagnostic Testing, Physical Findings, and ICD-9-CM/ICD-10-CM" section

DI 23022.100 Amyotrophic Lateral Sclerosis (ALS)

  • Added "ICD-10-CM" to section heading; and

  • Added ICD-10 code to "Diagnostic Testing, Physical Findings, and ICD-9-CM/ICD-10-CM" section

DI 23022.105 Anaplastic Adrenal Cancer - Adult

  • Added "ICD-10-CM" to section heading; and

  • Added ICD-10 code to "Diagnostic Testing, Physical Findings, and ICD-9-CM/ICD-10-CM" section

DI 23022.106 Angiosarcoma

  • Added "ICD-10-CM" to section heading; and

  • Added ICD-10 code to "Diagnostic Testing, Physical Findings, and ICD-9-CM/ICD-10-CM" section

DI 23022.110 Astrocytoma - Grade III and IV

  • Added "ICD-10-CM" to section heading; and

  • Added ICD-10 code to "Diagnostic Testing, Physical Findings, and ICD-9-CM/ICD-10-CM" section

DI 23022.111 Atypical Teratoid/Rhabdoid Tumor

  • Added "ICD-10-CM" to section heading;

  • Added ICD-10 code to "Diagnostic Testing, Physical Findings, and ICD-9-CM/ICD-10-CM" section; and

  • Updated spacing of bulleted list in "Physical Findings and Symptoms" section

DI 23022.115 Bladder Cancer

  • Added "ICD-10-CM" to section heading;

  • Added ICD-10 code to "Diagnostic Testing, Physical Findings, and ICD-9-CM/ICD-10-CM" section; and

  • Formatted information in "Diagnostic Testing" section into a bulleted list

DI 23022.125 Breast Cancer– with distant metastases or recurrent

  • Added "ICD-10-CM" to section heading;

  • Added ICD-10 code to "Diagnostic Testing, Physical Findings, and ICD-9-CM/ICD-10-CM" section; and

  • Updated punctuation of bulleted list in "Suggested MER for Evaluation" section

DI 23022.133 CDKL5 Deficiency Disorder

  • Added "ICD-10-CM" to section heading; and

  • Added ICD-10 code to "Diagnostic Testing, Physical Findings, and ICD-9-CM/ICD-10-CM" section

DI 23022.135 Cerebro Oculo Facio Skeletal (COFS) Syndrome

  • Added "ICD-10-CM" to section heading;

  • Added ICD-10 code to "Diagnostic Testing, Physical Findings, and ICD-9-CM/ICD-10-CM" section; and

  • Updated punctuation of bulleted list in "Suggested MER for Evaluation" section

DI 23022.136 Chronic Idiopathic Intestinal Pseudo Obstruction

  • Used bold font for name of condition in "Description" section;

  • Added "ICD-10-CM" to section heading;

  • Added ICD-10 code to "Diagnostic Testing, Physical Findings, and ICD-9-CM/ICD-10-CM" section;

  • Updated spacing of bulleted list in "Physical Findings" section;

  • Updated spacing of bulleted list in "Diagnostic Testing" section; and

  • Updated punctuation of bulleted listing in "Suggested MER for Evaluation" section

DI 23022.140 Chronic Myelogenous Leukemia (CML) - Blast Phase

  • Used bold font for name of condition in "Description" section;

  • Added "ICD-10-CM" to section heading;

  • Added ICD-10 code to "Diagnostic Testing, Physical Findings, and ICD-9-CM/ICD-10-CM" section;

  • Updated spacing of bulleted list in "Physical Findings" section;

  • Formated bulleted list in "Diagnostic Testing" section; and

  • Updated punctuation of bulleted listing in "Suggested MER for Evaluation" section

DI 23022.150 Ependymoblastoma (Child Brain Cancer)

  • Used bold font for name of condition in "Description" section;

  • Added "ICD-10-CM" to section heading;

  • Added ICD-10 code to "Diagnostic Testing, Physical Findings, and ICD-9-CM/ICD-10-CM" section;

  • Updated spacing of bulleted list in "Physical Findings" section;

  • Updated spacing of bulleted list in "Diagnostic Testing" section;

  • Updated spacing of bulled list in "Suggested MER for Evaluation" section; and

  • Updated punctuation of bulleted listing in "Suggested MER for Evaluation" section

DI 23022.155 Esophageal Cancer

  • Added "ICD-10-CM" to section heading;

  • Added ICD-10 code to "Diagnostic Testing, Physical Findings, and ICD-9-CM/ICD-10-CM" section;

  • Updated spacing of bulleted list in "Diagnostic Testing" section; and

  • Updated punctuation of bulleted listing in "Suggested MER for Evaluation" section

DI 23022.156 Esthesioneuroblastoma

  • Added "ICD-10-CM" to section heading;

  • Added ICD-10 code to "Diagnostic Testing, Physical Findings, and ICD-9-CM/ICD-10-CM" section; and

  • Updated spacing of bulleted list in "Physical Findings" section

DI 23022.163 Fibrolamellar Cancer

  • Added "Compassionate Allowance Information" header;

  • Added "ICD-10-CM" to section heading;

  • Added ICD-10 code to "Diagnostic Testing, Physical Findings, and ICD-9-CM/ICD-10-CM" section; and

  • Revised "Listings" to "the listings" in note to Disability Adjudicators/Examiners

DI 23022.175 Gallbladder Cancer

  • Formatted "Diagnostic testing" information into bulleted list;

  • Added "ICD-10-CM" to section heading;

  • Added ICD-10 code to "Diagnostic Testing, Physical Findings, and ICD-9-CM/ICD-10-CM" section; and

  • Updated punctuation of bulleted listing in "Suggested MER for Evaluation" section

DI 23022.180 Gaucher Disease (GD) - Type 2

  • Added "ICD-10-CM" to section heading;

  • Added ICD-10 code to "Diagnostic Testing, Physical Findings, and ICD-9-CM/ICD-10-CM" section; and

  • Updated punctuation of bulleted listing in "Suggested MER for Evaluation" section

DI 23022.185 Glioblastoma (Adult Brain Cancer)

  • Added "ICD-10-CM" to section heading; and

  • Added ICD-10 code to "Diagnostic Testing, Physical Findings, and ICD-9-CM/ICD-10-CM" section

DI 23022.200 Inflammatory Breast Cancer

  • Added "ICD-10-CM" to section heading;

  • Added ICD-10 code to "Diagnostic Testing, Physical Findings, and ICD-9-CM/ICD-10-CM" section;

  • Updated spacing of bulleted list in "Physical Findings" section;

  • Updated spacing of bulleted list in "Diagnostic Testing" section; and

  • Updated punctuation of bulleted listing in "Suggested MER for Evaluation" section

DI 23022.201 Intracranial Hemangiopericytoma

  • Added "ICD-10-CM" to section heading;

  • Added ICD-10 code to "Diagnostic Testing, Physical Findings, and ICD-9-CM/ICD-10-CM" section; and

  • Updated spacing of bulleted list in "Physical Findings" section

DI 23022.205 Kidney Cancer

  • Added "ICD-10-CM" to section heading;

  • Added ICD-10 code to "Diagnostic Testing, Physical Findings, and ICD-9-CM/ICD-10-CM" section; and

  • Updated punctuation of bulleted listing in "Suggested MER for Evaluation" section

DI 23022.215 Large Intestine Cancer

  • Added "ICD-10-CM" to section heading;

  • Added "ICD-10-CM" to section heading;

  • Added ICD-10 code to "Diagnostic Testing, Physical Findings, and ICD-9-CM/ICD-10-CM" section;

  • Updated "Adenocarcinoma" to "Cancer" in "Diagnostic Testing" section; and

  • Updated punctuation of bulleted listing in "Suggested MER for Evaluation" section

DI 23022.216 Leptomeningeal Carcinomatosis

  • Changed condition abbreviation font to bold in "Description" section;

  • Added "ICD-10-CM" to section heading;

  • Added ICD-10 code to "Diagnostic Testing, Physical Findings, and ICD-9-CM/ICD-10-CM" section;

  • Updated spacing of bulleted list in "Physical Findings" section; and

  • Updated punctuation of bulleted listing in "Suggested MER for Evaluation" section

DI 23022.221 Liposarcoma - Metastatic or Recurrent

  • Used bold font for name of condition in "Description" section;

  • Added "ICD-10-CM" to section heading; and

  • Added ICD-10 code to "Diagnostic Testing, Physical Findings, and ICD-9-CM/ICD-10-CM" section

DI 23022.225 Liver Cancer

  • Added "ICD-10-CM" to section heading;

  • Added ICD-10 code to "Diagnostic Testing, Physical Findings, and ICD-9-CM/ICD-10-CM" section; and

  • Updated punctuation of bulleted listing in "Suggested MER for Evaluation" section

DI 23022.226 Malignant Ectomesenchymoma

  • Updated spacing of bulleted list in "Diagnostic Testing" section;

  • Added "ICD-10-CM" to section heading;

  • Added ICD-10 code to "Diagnostic Testing, Physical Findings, and ICD-9-CM/ICD-10-CM" section; and

  • Updated punctuation of bulleted listing in "Suggested MER for Evaluation" section

DI 23022.227 Malignant Renal Rhabdoid Tumor

  • Updated sentence in "Diagnostic Testing" section for readability;

  • Added "ICD-10-CM" to section heading;

  • Added ICD-10 code to "Diagnostic Testing, Physical Findings, and ICD-9-CM/ICD-10-CM" section;

  • Updated spacing of bulleted list in "Physical Findings" section;

  • Updated spacing of bulleted list in "Diagnostic Testing" section; and

  • Updated spacing of bulleted list in "Suggested MER for Evaluation" section

DI 23022.230 Mantle Cell Lymphoma (MCL)

  • Added "ICD-10-CM" to section heading; and

  • Added ICD-10 code to "Diagnostic Testing, Physical Findings, and ICD-9-CM/ICD-10-CM" section

DI 23022.231 Marshall-Smith Syndrome

  • Added "ICD-10-CM" to section heading;

  • Added ICD-10 code to "Diagnostic Testing, Physical Findings, and ICD-9-CM/ICD-10-CM" section; and

  • Updated spacing of bulleted list in "Physical Findings and Symptoms" section

DI 23022.233 Megacystis Microcolon Intestinal Hypoperistalsis Syndrome

  • Added "ICD-10-CM" to section heading; and

  • Added ICD-10 code to "Diagnostic Testing, Physical Findings, and ICD-9-CM/ICD-10-CM" section

DI 23022.234 Megalencephaly-Capillary Malformation Syndrome

  • Added "ICD-10-CM" to section heading; and

  • Added ICD-10 code to "Diagnostic Testing, Physical Findings, and ICD-9-CM/ICD-10-CM" section

DI 23022.240 Niemann-Pick Disease (NPD) - Type A

  • Added "ICD-10-CM" to section heading;

  • Added ICD-10 code to "Diagnostic Testing, Physical Findings, and ICD-9-CM/ICD-10-CM" section; and

  • Updated punctuation of bulleted listing in "Suggested MER for Evaluation" section

DI 23022.245 Non-Small Cell Lung Cancer

  • Added "ICD-10-CM" to section heading;

  • Added ICD-10 code to "Diagnostic Testing, Physical Findings, and ICD-9-CM/ICD-10-CM" section;

  • Updated spacing of bulleted list in "Diagnostic Testing" section; and

  • Updated punctuation of bulleted listing in "Suggested MER for Evaluation" section

DI 23022.246 Oligodendroglioma Brain Cancer - Grade III

  • Added "ICD-10-CM" to section heading; and

  • Added ICD-10 code to "Diagnostic Testing, Physical Findings, and ICD-9-CM/ICD-10-CM" section

DI 23022.255 Osteogenesis Imperfecta (OI) - Type II

  • Added "ICD-10-CM" to section heading;

  • Added ICD-10 code to "Diagnostic Testing, Physical Findings, and ICD-9-CM/ICD-10-CM" section; and

  • Updated punctuation of bulleted listing in "Suggested MER for Evaluation" section

DI 23022.410 MPS II - Hunter Syndrome

  • Updated spacing of bulleted list in "Diagnostic Testing" section;

  • Added "ICD-10-CM" to section heading; and

  • Added ICD-10 code to "Diagnostic Testing, Physical Findings, and ICD-9-CM/ICD-10-CM" section

DI 23022.415 MPS I - Hurler Syndrome

  • Added "ICD-10-CM" to section heading; and

  • Added ICD-10 code to "Diagnostic Testing, Physical Findings, and ICD-9-CM/ICD-10-CM" section

DI 23022.420 Idiopathic Pulmonary Fibrosis

  • Added "ICD-10-CM" to section heading; and

  • Added ICD-10 code to "Diagnostic Testing, Physical Findings, and ICD-9-CM/ICD-10-CM" section

DI 23022.430 Junctional Epidermolysis Bullosa Lethal Type

  • Added "ICD-10-CM" to section heading; and

  • Added ICD-10 code to "Diagnostic Testing, Physical Findings, and ICD-9-CM/ICD-10-CM" section

DI 23022.440 Leigh's Disease

  • Added "ICD-10-CM" to section heading; and

  • Added ICD-10 code to "Diagnostic Testing, Physical Findings, and ICD-9-CM/ICD-10-CM" section

DI 23022.495 MPS III - Sanfilippo Syndrome

  • Added "ICD-10-CM" to section heading; and

  • Added ICD-10 code to "Diagnostic Testing, Physical Findings, and ICD-9-CM/ICD-10-CM" section

DI 23022.615 Lowe Syndrome

  • Added "ICD-10-CM" to section heading; and

  • Added ICD-10 code to "Diagnostic Testing, Physical Findings, and ICD-9-CM/ICD-10-CM" section

DI 23022.660 The ALS Parkinsonism Dementia Complex

  • Updated table style; Added "ICD-10-CM" to section heading;

  • Added ICD-10 code to "Diagnostic Testing, Physical Findings, and ICD-9-CM/ICD-10-CM" section; and

  • Updated punctuation of bulleted listing in "Suggested MER for Evaluation" section

DI 23022.670 Alobar Holoprosencephaly

  • Updated table style;

  • Added "ICD-10-CM" to section heading;

  • Added ICD-10 code to "Diagnostic Testing, Physical Findings, and ICD-9-CM/ICD-10-CM" section; and

  • Updated spacing of bulleted list in "Physical Findings" section

DI 23022.685 Carcinoma of Unknown Primary Site

  • Added "ICD-10-CM" to section heading;

  • Added ICD-10 code to "Diagnostic Testing, Physical Findings, and ICD-9-CM/ICD-10-CM" section; and

  • Updated spacing of bulleted list in "Suggested MER for Evaluation" section

DI 23022.695 Child Neuroblastoma—with distant metastases or recurrent

  • Added "ICD-10-CM" to section heading;

  • Added ICD-10 code to "Diagnostic Testing, Physical Findings, and ICD-9-CM/ICD-10-CM" section;

  • Updated spacing of bulleted list in "Diagnostic Testing" section;

  • Updated spacing of bulleted list in "Physical Findings" section; and

  • Updated spacing of bulleted list in "Suggested MER for Evaluation" section

DI 23022.700 Child Lymphoma

  • Added row for table heading;

  • Added "ICD-10-CM" to section heading;

  • Added ICD-10 code to "Diagnostic Testing, Physical Findings, and ICD-9-CM/ICD-10-CM" section;

  • Updated spacing of bulleted list in "Description" section;

  • Updated spacing of bulleted list in "Diagnostic Testing" section;

  • Updated spacing of bulleted list in "Physical Findings" section; and

  • Updated spacing of bulleted list in "Suggested MER for Evaluation" section

DI 23022.705 Chondrosarcoma—with multimodal therapy

  • Updated font of condition name to bold in "Description" section;

  • Corrected spelling of condition in "Description" section;

  • Added "ICD-10-CM" to section heading;

  • Added ICD-10 code to "Diagnostic Testing, Physical Findings, and ICD-9-CM/ICD-10-CM" section;

  • Updated spacing of bulleted list in "Physical Findings" section; and

  • Updated spacing of bulleted list in "Suggested MER for Evaluation" section

DI 23022.710 Cornelia de Lange Syndrome--Classic Form

  • Updated table heading spacing; Updated table formatting selection;

  • Added "ICD-10-CM" to section heading;

  • Added ICD-10 code to "Diagnostic Testing, Physical Findings, and ICD-9-CM/ICD-10-CM" section;

  • Updated spacing of bulleted list in "Physical Findings" section; and

  • Updated spacing of bulleted list in "Suggested MER for Evaluation" section

DI 23022.715 Ewing Sarcoma

  • Added "ICD-10-CM" to section heading;

  • Added ICD-10 code to "Diagnostic Testing, Physical Findings, and ICD-9-CM/ICD-10-CM" section;

  • Updated spacing of bulleted list in "Description" section;

  • Updated spacing of bulleted list in "Physical Findings" section; and

  • Updated spacing of bulleted list in "Suggested MER for Evaluation" section

DI 23022.720 Follicular Dendritic Cell Sarcoma -- metastatic or recurrent

  • Added "ICD-10-CM" to section heading;

  • Added ICD-10 code to "Diagnostic Testing, Physical Findings, and ICD-9-CM/ICD-10-CM" section;

  • Updated spacing of bulleted list in "Physical Findings" section; and

  • Updated spacing of bulleted list in "Suggested MER for Evaluation" section

DI 23022.725 Fucosidosis -- Type I

  • Added "ICD-10-CM" to section heading;

  • Added ICD-10 code to "Diagnostic Testing, Physical Findings, and ICD-9-CM/ICD-10-CM" section;

  • Updated spacing of bulleted list in "Physical Findings" section; and

  • Updated spacing of bulleted list in "Suggested MER for Evaluation" section

DI 23022.730 Galactosialidosis -- Early and Late Infantile Types

  • Added "ICD-10-CM" to section heading;

  • Added ICD-10 code to "Diagnostic Testing, Physical Findings, and ICD-9-CM/ICD-10-CM" section; and

  • Updated spacing of bulleted list in "Physical Findings" section

DI 23022.735 Glioma - Grade III and IV

  • Added "ICD-10-CM" to section heading; and

  • Added ICD-10 code to "Diagnostic Testing, Physical Findings, and ICD-9-CM/ICD-10-CM" section

DI 23022.085 Acute Leukemia

COMPASSIONATE ALLOWANCE INFORMATION

ACUTE LEUKEMIA

ALTERNATE NAMES

Acute Lymphoblastic or Lymphocytic Leukemia (ALL); Acute Myeloid Leukemia (AML)

DESCRIPTION

Acute Leukemia is a rapidly progressing cancer that starts in the blood-forming tissue such as the bone marrow, and causes large numbers of white blood cells to be produced and enter the blood stream. White blood cells fight infection and are generally classified as lymphocytes or as myelocytes depending on their exact form and function. If the growth of the white blood cells involves the lymphoid line, the disease is classified as acute lymphocytic leukemia; that of the myeloid line is classified as acute myeloid leukemia.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing: The diagnosis of acute leukemia is made by physical examination and history; complete blood count (CBC); peripheral blood smear; bone marrow aspiration and biopsy; cytogenetic analysis; immunophenotyping; and reverse transcription- polymerase chain reaction test (RT-PCR). Bone marrow testing is definitive.

Physical findings: The early symptoms and signs of acute leukemia may be similar to the flu, and include:

  • Fatigue;

  • Fever;

  • Dyspnea;

  • Weight loss;

  • Bony pain;

  • Bleeding and clotting problems;

  • Swelling in the abdomen;

  • Lumps or spots on the skin; and

  • Enlarged lymph nodes.

ICD-9: 205.00

ICD-10: C91.0

PROGRESSION

Children and adults with acute leukemia need to be treated immediately. Many times clinical remissions are seen, and in a smaller number of individuals, long-term remission is possible.

TREATMENT

The treatment of acute leukemia is approached in three phases. Induction therapy is the first phase of treatment. Its purpose is to kill the leukemia cells in the blood and bone marrow thereby inducing remission. Post-remission therapy is the second phase of treatment. It begins once the leukemia is in remission and its purpose is to kill any remaining leukemia cells that may not be active but could cause a relapse. This may be followed by the third phase, maintenance therapy, with the goal of preventing a relapse. Chemotherapy is the mainstay of treatment used during these phases. It involves the use of a regimen of high-dose, intense drugs and in the case of acute lymphoblastic leukemia, direct installation of chemotherapy into the spinal fluid is used. Also, high-dose stem cell transplantation may be performed. Commonly, individuals develop severe infectious and bleeding complications, requiring inpatient stays with IV antibiotics and transfusion support.
SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Clinical history and physical examination that describes the diagnostic features of the impairment;

  • Initial and follow-up pathology reports; and

  • Results of bone marrow examination, chromosomal analysis, and crytochemical surface marker studies.

Suggested Listings for Evaluation:
DETERMINATION

LISTING

REMARKS
Meets 13.06 A

Acute leukemia currently meets the criteria in 13.06 A.

113.06 A

Acute leukemia currently meets the criteria in 113.06 A
Equals

* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.090 Adrenal Cancer

COMPASSIONATE ALLOWANCE INFORMATION

ADRENAL CANCER

ALTERNATE NAMES

Adrenal Carcinoma; Adrenocortical Carcinoma; Adrenocortical Cancer; Cancer of the Adrenal Cortex; Carcinoma of the Adrenal Cortex

DESCRIPTION

Adrenal Cancer is rare and forms in the outer tissue layer of the adrenal gland, the cortex. A tumor of the adrenal cortex may be functioning (producing excess hormones) or non-functioning (not producing hormones). A subtype of adrenal cancer, anaplastic, which shows no cellular differentiation, generally presents as “non-functioning tumor.” Individuals with the hereditary diseases LiFraumeni Syndrome, Beckwith-Wiedemann Syndrome, and Carney Complex are at risk for adrenal cancer.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing: The diagnosis of Adrenal Cancer is made by:

  • Image guided fine needle biopsy;

  • Ultrasound;

  • X-rays;

  • MRI scan;

  • CT scan;

  • PET scan;

  • Adrenal angiography; and

  • Laboratory tests including blood and urinalysis to measure levels of adrenal hormones, cortisol levels, aldosterone levels, and androgen or estrogen levels.

Physical findings: Symptoms and physical findings of individuals with Adrenal Cancer may include:

  • Development of masculine or feminine features, due to hormone increases;

  • Generalized weakness;

  • Nausea;

  • Abdominal pain;

  • Swelling or weakening of bones or muscles;

  • High blood pressure;

  • Fluid retention; and

  • Electrolyte abnormalities in the body.

ICD-9: 194.0

ICD-10: C79.70

PROGRESSION

The 5-year survival rate for inoperable or unresectable tumors is less than 10%.

TREATMENT

Treatment may include surgery, radiation, or chemotherapy. Palliation can be used for inoperable or unresectable tumors, but the prognosis is poor.

SUGGESTED PROGRAMMATIC ASSESSMENT*
Suggested MER for Evaluation:
  • Clinical history and examination that describes the diagnostic features of the impairment;

  • A pathology report noting that the surgical specimen has positive margins, or is inoperable, unresectable, recurrent, or with metastases; and

  • An operative report.

“Inoperable” refers to a physician's opinion that surgery would not be beneficial based on a review of imaging studies, laboratory results, and physical examination findings.

“Unresectable” cancer is established when the operative report indicates that the cancer is not completely removed or the pathology report notes that the surgical specimen has positive margins.

Suggested Listings for Evaluation :
DETERMINATION

LISTING

REMARKS
Meets 13.21 Adrenal Cancer that is inoperable, unresectable, recurrent, or with metastases meets 13.21.
Equals
* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.100 Amyotrophic Lateral Sclerosis (ALS)

COMPASSIONATE ALLOWANCE INFORMATION

AMYOTROPHIC LATERAL SCLEROSIS (ALS) – ADULT

ALTERNATE NAMES

Aran-Duchenne; Gehrig's Disease; Lou Gehrig's Disease; Motor Neuron Disease

DESCRIPTION

Amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig's disease, is a rapidly progressive, invariably fatal neurological disease that attacks the nerve cells (neurons) responsible for controlling voluntary muscles.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing: There is no one test or procedure to establish the diagnosis of ALS. The diagnosis of ALS is based on history, neurological findings consistent with the diagnosis of ALS and eletrophysiological and neuroimaging testing to rule out other impairments that may cause similar signs and symptoms. The diagnosis may be supported by electrophysiological studies electromyogram (EMG) and nerve conduction study (NCS) but these tests may be negative or only suggestive of the diagnosis.

Physical findings: In ALS, both the upper motor neurons and the lower motor neurons degenerate or die, ceasing to send messages to muscles. Unable to function, the muscles gradually weaken, waste away, and twitch. Eventually the ability of the brain to start and control voluntary movement is lost. Individuals with ALS lose their strength and the ability to move their arms, legs, and body. When muscles in the diaphragm and chest wall fail, individuals lose the ability to breathe without ventilatory support. The disease does not affect a person's ability to see, smell, taste, hear, or recognize touch, and it does not usually impair a person's thinking or other cognitive abilities. However, several recent studies suggest that a small percentage of patients may experience problems with memory or decision-making, and there is growing evidence that some may even develop a form of dementia. The cause of ALS is not known, and scientists do not yet know why ALS strikes some people and not others.

ICD-9: 335.20

ICD-10: G12.21

PROGRESSION

Regardless of the part of the body first affected by the disease, muscle weakness and atrophy spread to other parts of the body as the disease progresses. Most individuals with ALS die from respiratory failure, usually within 3 to 5 years from the onset of symptoms.

TREATMENT

There is no cure for ALS. However, the FDA has approved two drugs to treat ALS. These are riluzole (Rilutek) and edaravone (Radicava) or (Radicut). Clinical trials with ALS patients showed that riluzole prolongs survival by several months. Riluzole does not reverse the damage already done to motor neurons, and patients taking the drug must be monitored for liver damage and other possible side effects. Radicava is an intravenous infusion given by a health care professional. Other treatments for ALS are designed to relieve symptoms and improve the quality of life for patients. Multidisciplinary teams of health care professionals can design an individualized plan of medical and physical therapy and provide special equipment aimed at keeping patients as mobile and comfortable as possible. Physicians can prescribe medications to help reduce fatigue, ease muscle cramps, control spasticity, and reduce excess saliva and phlegm. Drugs also are available to help patients with pain, depression, sleep disturbances, and constipation.

SUGGESTED PROGRAMMATIC ASSESSMENT *
Suggested MER for Evaluation:
  • Clinical history and examination that describes the diagnostic features of the impairment.

  • Neurological findings consistent with the diagnosis of ALS.

  • Results of any electrophysiological and neuroimaging testing.

Suggested Listings for Evaluation:
DETERMINATION

LISTING

REMARKS
Meets 11.10 Amyotrophic lateral sclerosis.
Equals
* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.105 Anaplastic Adrenal Cancer - Adult

COMPASSIONATE ALLOWANCE INFORMATION

ANAPLASTIC ADRENAL CANCER - ADULT

ALTERNATE NAMES

 

DESCRIPTION

Anaplastic Adrenal Cancer is a sub-type of adrenal cancer, which shows virtually no cellular differentiation. It is not associated with overproduction of hormones as is seen in other types of adrenal carcinomas. Abdominal pain is a presenting symptom.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing: Anaplastic Adrenal Cancer is diagnosed by CT or MRI scans. An adrenal gland biopsy is definitive.

Physical findings: Individuals with Anaplastic Adrenal Cancer generally present with:

  • Fever;

  • Weight loss;

  • Abdominal pain and tenderness;

  • Back pain;

  • Abdominal pain, fullness, and tenderness; and

  • An abdominal mass that is hard and non-movable.

ICD-9: 194.0

ICD-10: C79.70

PROGRESSION

Median survival for anaplastic adrenal cancer is 5 months as compared with a median survival of 40 months for differentiated adrenal cancers.

TREATMENT

Radical surgical excision is the treatment for individuals with localized malignancies and remains the only method by which long-term disease-free survival may be achieved.

SUGGESTED PROGRAMMATIC ASSESSMENT *
Suggested MER for Evaluation:
  • Clinical history and examination that describes the diagnostic features of the impairment.

  • Imaging studies of CT scan or MRI will suggest a diagnosis.

  • An adrenal gland biopsy is definitive.

“Inoperable” refers to a physician's opinion that surgery would not be beneficial based on a review of imaging studies, laboratory results, and physical examination findings.

“Unresectable” cancer is established when the operative report indicates that the cancer is not completely removed or the pathology report notes that the surgical specimen has positive margins.

Suggested Listings for Evaluation:
Meets

13.21

Anaplastic carcinoma of the adrenal gland is evaluated under 13.21 A if inoperable, unresectable, or recurrent. Anaplastic cancer of the adrenal glands with metastases is evaluated under 13.21 B.
Equals
* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.106 Angiosarcoma

COMPASSIONATE ALLOWANCE INFORMATION

ANGIOSARCOMA

ALTERNATE NAMES

Primary Angiosarcoma; Secondary Angiosarcoma

DESCRIPTION

Angiosarcoma is a rare and aggressive soft tissue sarcoma that begins in the cells that line blood vessels or lymph vessels and can occur in any area of the body. Angiosarcoma most commonly present in the skin and breast, but may also occur in the liver, spleen and other deep tissues, and are frequently metastatic at the time of diagnosis. Lymphedema is a common, preceding association of angiosarcoma (for example, following breast cancer treatment). Other rare associations include prior radiation exposure or treatment, and carcinogen exposure such as vinyl chloride, arsenic and thorium dioxide.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing: A biopsy is definitive. The diagnosis of angiosarcoma may involve:

  • A physical examination;

  • CT/MRI scans;

  • PET scans; and

  • Ultrasound.

Physical findings: Physical findings of angiosarcoma depend on the site of the tumor and degree of metastasis.

ICD-9: 171.9

ICD-10: C22.3

PROGRESSION

Most angiosarcomas occur in adults, but may rarely affect some children. These tumors are high grade tumors that are fast growing and aggressive. Angiosarcomas are deep-seated and may go unnoticed until the late stages before they are diagnosed. Angiosarcomas metastasize freely because these cancerous cells are in the lining of blood vessels and lymph nodes. Even after surgical resection from the primary site, these tumors may recur in other locations in the body. The prognosis is poor if there is metastasis to other sites.

TREATMENT

Treatment of angiosarcoma depends on the specific type of tumor, its size, and its location and the amount that it has spread (metastasized). The standard treatment of these tumors is a complete resection (surgical removal) of the primary tumor. If a complete resection is not feasible, radiation therapy is administered. Adjuvant chemotherapy is used in some patients with varying response to treatment.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for evaluation:

  • Clinical history and examination that describes the diagnostic features of the impairment;

  • Biopsy report; and

  • Imaging reports.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

13.03 A

Evaluate in adults under 13.03 A depending upon site of origin, upon diagnosis confirmed by objective medical evidence.

13.04

Evaluate in adults under 13.04 depending upon site of origin, upon diagnosis confirmed by objective medical evidence.

13.13 A 3

Evaluate in adults under 13.13 A 3 depending upon site of origin, upon diagnosis confirmed by objective medical evidence.

113.03

Evaluate in children under 113.03 depending on site of origin, upon diagnosis confirmed by objective medical evidence.
113.13 C

Evaluate in children under 113.13 C, depending on site of origin, upon diagnosis confirmed by objective medical evidence.

Equals

* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.110 Astrocytoma - Grade III and IV

COMPASSIONATE ALLOWANCE INFORMATION

ASTROCYTOMA - GRADE III and IV

ALTERNATE NAMES

Astrocytoma Grade III; Anaplastic Astrocytoma; Anaplastic Malignant Astrocytoma; Astrocytoma Grade IV; Mixed Glioblastoma Sarcoma; Gliosarcoma Astrocytoma Grade IV; Giant Cell Glioblastoma; Anaplastic Astrocytoma; Anaplastic Oligoastrocytoma; Anaplastic Oligodendroglioma; Anaplastic Pleomorphic Xanthoastrocytoma

DESCRIPTION

Astrocytoma is a tumor that begins in the brain or spinal cord in small, star-shaped cells called astrocytes. These tumors are graded as defined by the World Health Organization (WHO) and the grading is based on microscopic analysis of levels of mitotic activity and nuclear atypia. Grades III and IV represent the most aggressive forms of the disease. Grade III astrocytomas include anaplastic astrocytomas and sometimes the less malignant of the glioblastoma multiforme group. Grade IV Astrocytomas are highly malignant and include only glioblastoma types. Cerebellar astrocytomas start in the cerebellum, which is located at the lower back of the brain. The cerebellum is the part of the brain that controls movement, balance, and posture. These tumors affect both adults and children. About 15-25% of all childhood brain tumors are cerebellar astrocytomas. Although cancer is rare in children, brain tumors are the most common type of childhood cancer other than leukemia and lymphoma. The symptoms of astrocytoma vary and often depend on an individual's age and where the tumor is located.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing: Diagnostic testing for Astrocytoma includes a neurologic examination, and radiologic imaging such as a CT scan and/or MRI (magnetic resonance imaging). A biopsy is performed, either before surgery by a needle biopsy or at the time of surgical resection.

Physical findings: Symptoms and physical findings of Astrocytoma include:

  • Loss of balance;

  • Trouble walking;

  • Slow speech;

  • Morning headache or headache that goes away after vomiting;

  • Nausea and vomiting;

  • Unusual sleepiness or change in energy level;

  • Change in personality or behavior;

  • Seizures;

  • One-sided weakness;

  • Sensory loss; and

  • Visual changes.

ICD-9: 191.9

ICD-10: C71.9

PROGRESSION

Astrocytomas tend to grow and become more malignant over time. Brain stem gliomas have relatively poor prognoses. The overall median survival is between 44 and 74 weeks.

TREATMENT

Treatment depends on the location of the tumor and its progression. Standard treatment is surgery followed by radiation therapy. If surgery is not an option, radiation therapy is given. Chemotherapy is sometimes given during or after radiation therapy.

SU GGESTED PROGRAMMATIC ASSESSMENT*
Suggested MER for Evaluation:
  • Clinical history and examination that describes the diagnostic features of the impairment;

  • A pathology report; and

  • If a pathology report is unavailable, a surgical report or all radiological studies especially the MRI and CT scans may be substituted.

Suggested Listings for Evaluation:
DETERMINATION

LISTING

REMARKS
Meets 13.13 A 1 Pathologically confirmed or clinically diagnosed astrocytoma or glioma of the brain stem or thalamus (independent of grade).

13.13 A 2

Grade IIII or IV astrocytoma, oligodendroglioma, or glioblastoma.

113.13 B

Grade III or IV astrocytoma or glioblastoma.
Equals
* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.111 Atypical Teratoid/Rhabdoid Tumor

COMPASSIONATE ALLOWANCE INFORMATION

ATYPICAL TERATOID/RHABDOID TUMOR

ALTERNATE NAMES

AT/RT; Central Nervous System AT/RT; CNS AT/RT; Malignant AT/RT; Childhood Atypical Teratoid / Rhabdoid Tumor; Childhood AT/RT

DESCRIPTION

Atypical Teratoid/ Rhabdoid Tumor (AT/RT) is a rare central nervous system tumor of the brain and spinal cord, which may also originate in other organs and tissues. It usually occurs in children younger than three years of age, although it can occur in older children and adults. About half of these tumors form in the cerebellum or brain stem.

Approximately 90% of AT/RTs are caused by genetic mutations in the INI1 gene.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing: AT/RT is diagnosed using a combination of:

  • Clinical history;

  • Physical examination;

  • Imaging (CT or MRI scans, ultrasound, bone scan);

  • Biopsy results;

  • Laboratory tests including lumbar puncture, bone marrow biopsy and aspiration; and

  • INI1 gene testing for mutations.

Physical findings and Symptoms: Children with AT/RT may present with:

  • Complaints of morning headache or headache that goes away after vomiting;

  • Unusual sleepiness or change in activity level;

  • Loss of balance, lack of coordination, or trouble walking; and

  • Increased head size in infants.

ICD-9: 191.00

ICD-10: C72.9

PROGRESSION

AT/RTs usually occur in children younger than three years of age, although it can occur in older children and adults. Symptoms of AT/RTs may develop quickly and progress over a period of days or weeks with symptoms varying depending on the age of the child and the location of the tumor. Children presenting with AT/RT before the age of 3 years have a poor prognosis. The prognosis is also based on residual tumor remaining after surgery, and whether the cancer has spread (metastasized) to other parts of the central nervous system or rest of the body such as kidney.

TREATMENT

There is no standard staging system for central nervous system atypical teratoid/ rhabdoid tumor. This tumor is classified as newly diagnosed or recurrent. Treatment depends on the age of the child and extent of the cancer, and may include chemotherapy, radiation therapy, or high-dose chemotherapy with stem cell transplant. Long-term survival is possible in adults receiving multimodal therapy.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for evaluation:

  • Clinical history and examination that describes the diagnostic features of the impairment.

  • Pathology report.

  • Operative reports.

  • MRI/ CT scans, bone scans, ultrasound.

  • Results of bone marrow biopsy or lumbar puncture (spinal tap).

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

13.13 A

Listing level severity must be documented. Evaluate under 13.13 in adults if the tumor originates in the central nervous system. Evaluate under the appropriate adult listing when AT/RT originates in locations besides the central nervous system, such as in the neck (13.02D), mediastinum (13.15 B 1), liver (13.19), and kidney (13.21 B).

113.13

Listing level severity must be documented.Evaluate under 113.03 when the tumor originates in locations besides the central nervous system.

Equals

* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.115 Bladder Cancer

COMPASSIONATE ALLOWANCE INFORMATION

BLADDER CANCER

ALTERNATE NAMES

Invasive Bladder Cancer; Bladder Carcinoma; Invasive Bladder Carcinoma; Transitional Cell Carcinoma of the Bladder; Urothelial Cancer; Squamous Cell Carcinoma of the Bladder; Squamous Cell Cancer of the Bladder; Adenocarcinoma of the Bladder; Urinary Cancer; Urinary Carcinoma

DESCRIPTION

Bladder Cancer is a disease in which malignant cells form in the tissues of the bladder. Most bladder cancers are transitional cell carcinomas. Other types include squamous cell carcinoma and adenocarcinoma. The cells that form carcinoma develop in the inner lining of the bladder, maybe as a result of chronic irritation and inflammation. Cancer that begins in the transitional cells may spread through the lining of the bladder and invade the muscle wall of the bladder or spread to nearby organs and lymph nodes. This is called Invasive Bladder Cancer.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing: Bladder Cancer is diagnosed by:

  • Physical exam and history;

  • CT scan;

  • Urinalysis;

  • Intravenous pyelogram (IVP);

  • Cystoscopy (examination of urinary tract);

  • Biopsy; and/or

  • Urine cytology (microscopic study of cells).

The following may also be used to determine if the cancer has spread:

  • MRI, chest x-ray; and/or

  • Bone scan.

Physical findings: Individuals with Bladder Cancer may present with irritative bladder symptoms such as urinary frequency or urgency and hematuria. Flank pelvic or bony pain may be present.

ICD-9: 188.9

ICD-10: C79.11

PROGRESSION

If the cancer is inoperable or unresectable, treatment with radiation and/or chemotherapy can be utilized for palliation, but the prognosis is poor.

TREATMENT

Treatment may include surgery, radiation, chemotherapy, and biologic therapy. Surgical options may include transurethral resection (TUR), radical cystectomy, segmental cystectomy, or urinary diversion. Some patients may receive chemotherapy after surgery. This post-surgical treatment is referred to as adjuvant therapy.
SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • A pathology report and an operative report stating that the tumor is inoperable or unresectable are the preferred methods for documentation.

  • Clinical history and examination that describes the diagnostic features of the impairment.

  • In the absence of these reports, the adjudicator may use a physician's opinion that indicates the cancer is inoperable or unresectable based on described objective findings.

“Inoperable” refers to a physician's opinion that surgery would not be beneficial based on a review of imaging studies, laboratory results, and physical examination findings.

“Unresectable” cancer is established when the operative report indicates that the cancer is not completely removed or the pathology report notes that the surgical specimen has positive margins.

Suggested Listings for Evaluation:
DETERMINATION

LISTING

REMARKS
Meets 13.22 C Bladder Cancer that is inoperable, unresectable meets the criteria in 13.22 C.

13.22 D

Bladder Cancer ith metastases to or beyond the regional lymph nodes, meets the criteria in 13.22 D.
Equals
* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.125 Breast Cancer – with distant metastases or recurrent

COMPASSIONATE ALLOWANCE INFORMATION

BREAST CANCER

ALTERNATE NAMES

Breast Carcinoma (Stage IV); Metastatic Breast Carcinoma; Metastatic Breast Cancer; Ductal Carcinoma of the Breast (Stage IV); Metastatic Ductal Carcinoma; Metastatic Ductal Cancer; Lobular Carcinoma of the Breast Stage (IV); Metastatic Lobular Cancer

DESCRIPTION

Breast Cancer forms in tissues of the breast, usually the ducts and lobules. It occurs in both men and women, although male breast cancer is rare. Individuals with breast cancer meeting the criteria under the listings have a poor prognosis.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing: The diagnosis of Breast Cancer is made by clinical breast examination and imaging tests, such as mammogram, ultrasound, and MRI. A needle or incisional biopsy confirms the diagnosis.

Physical findings: Individuals with listing level severity of Breast Cancer may present with:

  • A breast lump or changes in breast size or shape;

  • Skin dimpling or skin changes (e.g. Thickening, swelling or redness);

  • Nipple inversion or other nipple abnormalities (e.g. ulceration, retraction, or spontaneous bloody discharge);

  • Axillary lump or contour changes;

  • Dilated veins; or

  • Ulceration.

Signs of metastatic spread may include:

  • Breathing difficulties;

  • Bone pain;

  • Hypercalcemia;

  • Abdominal distention;

  • Jaundice;

  • Localizing neurologic signs;

  • Altered cognitive function or headache.

ICD-9: 174.9

ICD-10: C79.81

PROGRESSION

The 5-year survival rate for breast cancers that have spread to other parts of the body tend to have a poor prognosis. The 5-year survival rate for individuals with stage IV breast cancer when appropriately treated is about 20%.

TREATMENT

Treatment may include surgery, chemotherapy, radiation, and hormone therapy.

SUGGESTED PROGRAMMATIC ASSESSMENT*
Suggested MER for Evaluation:
  • Clinical history and examination that describes the diagnostic features of the impairment;

  • Summaries of hospitalization and medical reports if we cannot get a pathology report or operative note. These summaries should provide us with details of the findings at surgery and, whenever appropriate, the pathological findings; and

  • In place of an operative note, a pathology report indicating positive margins may be substituted.

Suggested Listings for Evaluation:
DETERMINATION

LISTING

REMARKS
Meets 13.10 A, B, or C
Equals
* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator

DI 23022.133 CDKL5 Deficiency Disorder

COMPASSIONATE ALLOWANCE INFORMATION

CDKL5 DEFICIENCY DISORDER

ALTERNATE NAMES

 

CDKL V Deficiency Disorder; CDKL Five Deficiency Disorder; CDKL5 Encephalopathy; CDKL V Encephalopathy; CDKL Five Encephalopathy; CDKL5-Related Epilepsy; CDKL V Related Epilepsy; CDKL5-Related Epileptic Encephalopathy; CDKL Five Related Epileptic Encephalopathy; Early Infantile Epileptic Encephalopathy 2; Early Infantile Epileptic Encephalopathy Two; Early Infantile Epileptic Encephalopathy II; Early Infantile Epilepsy Encephalopathy 2; Early Infantile Epilepsy Encephalopathy Two; Early Infantile Epilepsy Encephalopathy II

DESCRIPTION CDKL5 Deficiency Disorder is a rare X-linked genetic disorder caused by mutations in the CDKL5 gene. CDKL5 gene mutations can cause a broad range of clinical symptoms and severity. Most people with CDKL5 deficiency disorder have early-onset, intractable epilepsy and neurodevelopmental delay affecting cognitive, motor, speech, and visual functioning. CDKL5 is one of the most common forms of genetic epilepsy.
DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING Diagnostic testing: The diagnosis of CDKL5 Deficiency disorders is made by:
  • History and physical examination;

  • Genetic testing for CDKLF mutations;

  • Electroencephalography (EEG) testing; and

  • Magnetic resonance imaging (MRI).

Physical findings: The signs and symptoms of CDKL5 Deficiency disorders may include:

  • Seizures;

  • Microcephaly (small head size);

  • Hand wringing movements or mouthing of hands;

  • Global developmental delays and intellectual delays;

  • Impaired language/communication skills;

  • Hypersensitivity to touch;

  • Lack of eye contact or poor eye contact;

  • Gastroesophageal reflux (GERD);

  • Constipation;

  • Small, cold feet;

  • Breathing irregularities, such as hyperventilation;

  • Grinding of teeth;

  • Episodes of crying or laughing for no reason;

  • Low/poor muscle tone;

  • Limited hand skills;

  • Autistic-like tendencies, such as hand flapping;

  • Scoliosis;

  • Cortical visual impairment (CVI);

  • Apraxia;

  • Eating/drinking challenges;

  • Interruptive sleep;

  • Sideways glance; and

  • Crossing of the legs.

ICD-9: 345.1

ICD-10: G40.4
PROGRESSION

Seizures in CDKL5 deficiency disorder usually begin within the first 3 months of life, and they can appear as early as the first week after birth. The types of seizures change with age, and they usually follow a predictable pattern. Seizures occur daily in most affected individuals, and they are resistant to treatment.

About 90% of people diagnosed with CDKL5 deficiency disorder are female. Affected males tend to have more severe developmental disabilities, including profound intellectual disability and almost no development of gross and fine motor skills. The life expectancy varies depending on the severity of health problems.

TREATMENT Currently there is no cure for CDKL5 deficiency disorder. Management is mainly focused on optimizing the individual’s abilities and providing psychosocial support for the family. Anticonvulsant drugs, ketogenic diets, and vagus nerve stimulation are used to treat seizures. Steroids and adrenocorticotrophic (ACTH) have been used for the treatment of infantile spasms.
SUGGESTED PROGRAMMATIC ASSESSMENT *
Suggested MER for Evaluation:
  • Clinical history and examination that describes the diagnostic features of the impairment;

  • Genetic testing confirming mutations in the CDKL5 gene; and

  • MRI of the brain.

Suggested Listings for Evaluation:
DETERMINATION

LISTING

REMARKS
Meets 11.02

11.17

12.02

110.08

111.02

111.17

112.02

Equals
* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.135 Cerebro Oculo Facio Skeletal (COFS) Syndrome

COMPASSIONATE ALLOWANCE INFORMATION

CEREBRO OCULO FACIO SKELETAL (COFS) SYNDROME

ALTERNATE NAMES

Cockayne Syndrome-Classical Type I; Cockayne Syndrome-Congenital Type II; Pena Shokeir Syndrome Type II

DESCRIPTION

Cerebro oculo facio skeletal (COFS) syndrome is a pediatric, genetic, degenerative disorder that involves the brain and the spinal cord that begins before birth. It is characterized by craniofacial and skeletal abnormalities, severely reduced muscle tone, and impairment of reflexes. Other findings may include large, low-set ears, small eyes, microcephaly (abnormal smallness of the head), micrognathia (abnormal smallness of the jaws), clenched fists, wide-set nipples, vision impairments, involuntary eye movements, and intellectual disability, which can be moderate or severe. Respiratory infections are frequent. A small number of individuals with COFS have a mutation in the “ERCC6” gene and are more appropriately diagnosed as having Cockayne Syndrome Type II. Other individuals with COFS may have defects in the xeroderma pigmentosum genes “XPG” or “XPD”. Still others who are diagnosed with COFS have no identifiable genetic defect and are presumably affected because of mutations in a distinct, as-yet-unknown gene. NOTE: This disorder is not the same as Cohen's syndrome (cerebral obesity ocular skeletal syndrome).

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing: COFS is usually diagnosed at birth. Ultrasound technology can detect fetuses with COFS at an early stage of pregnancy because the fetus moves very little.

Genetic testing showing the ERCC6, XPG, or XPD gene mutations, are associated with the syndrome but are not considered alone as diagnostic or confirmatory of COFS syndrome.

Physical findings: Physical examination shows:

  • Flexion contractures (fixed bending of the elbows and knees);

  • Hunched back (kyphosis);

  • Bending of the fingers (camptodactyly);

  • Hip deformities;

  • Craniofacial and skeletal abnormalities;

  • Severely reduced muscle tone;

  • Impaired reflexes and porous bones (osteoporosis).

Other findings may include:

  • Large, low-set ears;

  • Small eyes;

  • Microcephaly (abnormal smallness of the head);

  • Micrognathia (abnormal smallness of the jaws);

  • Clenched fists;

  • Wide-set nipples;

  • Vision impairments;

  • Involuntary eye movements; and

  • Intellectual disability.

ICD-9: 759.89

ICD-10: Q87.0

PROGRESSION

COFS is a fatal disease. Death usually occurs by 5 years of age.

TREATMENT

Treatment is supportive and symptomatic. Individuals with the disorder often require tube feeding. Because COFS is genetic, genetic counseling is available.
SUGGESTED PROGRAMMATIC ASSESSMENT *
Suggested MER for Evaluation:
  • Clinical history and examination and examination that describes the diagnostic features of the impairment; and

  • Genetic testing.

Suggested Listings for Evaluation:
DETERMINATION

LISTING

REMARKS
Meets 110.08 B Clinical evidence consistent with COFS syndrome. The results of genetic testing may contribute in confirmation of the diagnosis.
Equals
* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.136 Chronic Idiopathic Intestinal Pseudo Obstruction

COMPASSIONATE ALLOWANCE INFORMATION

CHRONIC IDIOPATHIC INTESTINAL PSEUDO OBSTRUCTION

ALTERNATE NAMES

Chronic Intestinal Pseudo Obstruction; Intestinal Pseudo Obstruction; Congenital Idiopathic Intestinal Pseudo Obstruction; Primary Intestinal Pseudo Obstruction

DESCRIPTION

Chronic Idiopathic Intestinal Pseudo Obstruction (CIIPO) is a rare gastrointestinal motility (movement) disorder characterized by impairment of the muscle contractions that move food, fluid, stool or air through the gastrointestinal (digestive) tract in the absence of any mechanical obstructions or lesion(s). This condition may be caused by abnormalities or injury to the smooth muscles of the gastrointestinal tract (myogenic) or from problems with the nerves that control the muscle contractions (neurogenic). CIIPO leads to a buildup of partially digested food in the intestines. This buildup may cause abdominal swelling (distention) and pain, nausea, vomiting, and constipation or diarrhea. Affected individuals may experience loss of appetite and impaired ability to absorb nutrients, which may lead to malnutrition and weight loss.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing: The clinical diagnosis of CIIPO is confirmed by a combination of:

  • Gastrointestinal manometric studies (anal manometry or esophageal manometry);

  • Transit time measurements;

  • Radiological findings (dilated bowel with air fluid levels);

  • Abdominal x-rays;

  • Gastric emptying radionuclide scan:

  • Intestinal radionuclide scan;

  • Barium swallow, barium enema;

  • Blood test for nutritional or vitamin deficiencies;

  • Colonoscopy; and

  • Histological examination of a full thickness biopsy of the affected intestine.

Physical findings: Individuals with CIIPO may present with severe chronic obstructive symptoms:

  • Abdominal pain;

  • Distensions/fullness;

  • Nausea/vomiting, diarrhea and/or intractable constipation; or

  • Malabsorption of nutrients leading to weight loss and/or failure to thrive.

ICD-9: 560.89

ICD-10: K59.8

PROGRESSION

CIIPO can occur in people of any age, but it develops primarily in children and may be present at birth. In severe cases, intestinal transplantation may be utilized in children who are dependent on total parenteral nutrition (TPN- an intravenous administration of a solution of essential nutrient needed by individuals who are unable to ingest food) or TPN management failure. In adults, CIIPO is commonly a secondary complication of other conditions such as scleroderma and other connective tissue conditions, diabetes, neurologic disease, use of narcotics with anticholinergic properties, hypothyroidism infection, paraneoplastic syndromes, amyloidosis, and radiation enteritis. CIIPO is a severe disease which may lead to potentially life-threatening complications over time. Long term outcome is generally poor despite surgical and medical therapies.

TREATMENT

There is no definitive cure for CIIPO. Treatment is symptom specific to reduce complications. Medications such as prokinetics (Domperidone, Cisapride, or Erythromycin) to increase the frequency of contractions; analgesics (relief from pain); or antibiotics to treat bacterial overgrowth may be prescribed; nutritional support (PEG jejunostomy, total parenteral nutrition (TPN); and surgical interventions (colonoscopy, bypass, limited resection, decompression stoma) may be utilized. Management of CIIPO requires a multidisciplinary approach including a dietician to address nutritional deficiencies; gastroenterologist; pediatric gastroenterologist; pain management specialist or psychologist depending on the cause of the disorder, the extent and location of intestine involved and the severity of symptoms.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Clinical history and examination that describes the diagnostic features of the impairment, and physical findings; and

  • Imaging studies including x-rays, ultrasound, computerized axial tomography (CAT) scans, magnetic resonance imaging (MRI) and radionuclide scans.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

5.08

Listing level severity must be documented.

105.08 A and B

Listing level severity must be documented.

105.10

Listing level severity must be documented.

Equals

* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.140 Chronic Myelogenous Leukemia (CML) - Blast Phase

COMPASSIONATE ALLOWANCE INFORMATION

CHRONIC MYELOGENOUS LEUKEMIA (CML) - BLAST PHASE

ALTERNATE NAMES

Chronic Myeloid Leukemia (Blast /Accelerated phase); CML (Blast/Accelerated phase); Chronic Granulocytic Leukemia (Blast Accelerated phase)

DESCRIPTION Chronic Myelogenous Leukemia (CML) is a clonal disorder involving the abnormal fusion of chromosomes 9 and 22, forming the Philadelphia chromosome. This in turn produces and abnormal enzyme, tyrosine kinase, which causes abnormal production of white blood cells. The disease is classified by phase: chronic, accelerated, and blast phases. The accelerated and blast phases of CML refer to those phases of the disease when increased immature white blood cells (blasts) are made and do not mature. When this happen, the disease behaves similarly to acute leukemia. Technically, the chronic phase with occurs <10% blasts in the bone marrow or blood; the accelerated phase occurs with 11-19% blasts in the bone marrow or blood; and the blast phase occurs with 20% or more blasts in the bone marrow or blood. Symptoms include: fever, night sweats, bone pain, and weight loss. When tiredness, fever, and an enlarged spleen occur during the blast phase, it is called a blast crisis.
DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing: CML is diagnosed with tests and procedures such as:

  • Complete blood count (CBC);

  • Bone marrow aspiration and biopsy;

  • Cytogenic analysis of the blood and/or bone marrow; and

  • Reports that address the Philadelphia chromosome and molecular assay of the blood or bone marrow looking for bcr-abl gene.

Clinical findings: Individuals with CML present with:

  • Splenomegaly (enlarged spleen);

  • Elevated white blood counts exceeding 300,000- 600,000 cells/μL; and

  • Retinas showings papilledema, venous obstruction, and hemorrhages.

ICD-9: 205.10

ICD-10: C92.1

PROGRESSION

Blast phase is the final phase in the evolution of CML. It behaves like acute leukemia with rapid progression and short survival.

TREATMENT

Treatment of CML has improved with the use of tyrosine kinase inhibitors, which block the action of this molecule and its effects on white blood cell production. Standard chemotherapy agents are used along with immunotherapy (interferon) and bone marrow transplantation.
SUGGESTED PROGRAMMATIC ASSESSMENT*
Suggested MER for Evaluation:
  • Results of a Complete Blood Count (CBC) exam and bone marrow examinations; and

  • If necessary, cytogenetic (chromosome) studies and molecular analyses can provide additional confirmative information.

Suggested Listings for Evaluation:
DETERMINATION

LISTING

REMARKS
Meets 13.06 B 1 Chronic Myelogenous Leukemia, blast phase currently meets the criteria in 13.06 B 1.
Equals
* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.150 Ependymoblastoma (Child Brain Cancer)

COMPASSIONATE ALLOWANCE INFORMATION

EPENDYMOBLASTOMA (CHILD BRAIN CANCER)

ALTERNATE NAMES

Childhood Ependymoma; Ependymal Tumors; Neuroectodermal Tumors, Primitive; Embryonal Tumor with Multilayer Rosettes, C19MC-Altered; Embryonal Tumor with Multilayer Rosettes, Not Otherwise Specified (NOS); ETMR

DESCRIPTION

Ependymoblastoma is a highly malignant brain cancer of childhood and is usually seen in the very young child or infant. It is rare among brain cancers in general, but these brain cancers are the second most common malignancy in the childhood age group, second only to leukemia.

Ependymoblastoma is part of a group of cancers classified under the central nervous system (CNS) embryonal cancers group. The symptoms include loss of balance, abnormal speech, general weakness or weakness on one side of the face and double vision. Infratentorial ependymoblastomas (lower back brain) present with signs and symptoms of increased intracranial pressure and cerebellar signs (coordination symptoms). Supratentorial ependymoblastomas (upper brain) are more likely to present with focal headaches and focal motor signs.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9/ICD-10-CM CODING

Diagnostic testing: The diagnosis of ependymoblastoma is made by a combination of:

  • Clinical history and physical examinations;

  • Neurological examination;

  • CT/MRI scans of the brain and spine;

  • Lumbar puncture; and

  • Biopsy.

Physical findings: Children with an ependymoblastoma may present with:

  • Loss of balance, difficulties with walking, worsening handwriting, or abnormal speech;

  • Lack of coordination;

  • General weakness or weakness on one side of the face;

  • Unusual sleepiness or changes in energy level;

  • Double vision;

  • Increased intracranial pressure, seizures; and

  • Headaches.

ICD-9: 191.9

ICD-10: C71.9

TREATMENT

Because of the high morbidity associated with whole brain or neuraxis radiation in young children, the therapy for ependymoblastomas is now divided into that for children older than 3 years or 3 years and younger.

Children older than 3 years: Standard treatment of childhood ependymoblastoma is usually surgery followed by radiation therapy to the brain and spinal cord. Sometimes chemotherapy is given at the same time as radiation therapy or after radiation therapy.

Children 3 years or younger: Standard treatment is usually surgery followed by chemotherapy. Other treatments may include surgery followed by high-dose chemotherapy with bone marrow or stem cell transplant and surgery followed by chemotherapy and low-dose of localized radiation therapy.

Treatment of childhood ependymoblastoma in children 3 years old or younger is often within a clinical trial.

PROGRESSION

Prognosis is poor, with a 5- year survival rates ranging from 0% to 30%.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Clinical history and examination that describes the diagnostic features of the impairment;

  • Pathology reports of the cancer;

  • Cytology report of the cerebrospinal fluid (CSF);

  • Neuroradiological studies including CT or MRI of the brain; and

  • Neuroradiological studies of the entire neuraxis.

Suggested Listings for Evaluation:
DETERMINATION LISTING REMARKS
Meets 13.13 A 1

113.13 A

Equals
* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.155 Esophageal Cancer

COMPASSIONATE ALLOWANCE INFORMATION

ESOPHAGEAL CANCER

ALTERNATE NAMES

Adenocarcinoma of the Esophagus; Squamous cell carcinoma of the Esophagus

DESCRIPTION

Esophageal Cancer originates from the lining of the esophagus and presents as either squamous cell carcinoma (cancer that begins in flat cells lining the esophagus) or adenocarcinoma (cancer that begins in cells that make and release mucus and other fluids). In general, squamous cell carcinoma is usually found in the upper esophagus while adenocarcinoma is located in the lower part of the esophagus and may be related to reflux disease and a condition termed Barrett's esophagus. Esophageal cancer may spread throughout the esophagus and may also extend beyond the edges of the primary tumor (distant metastases). Esophageal Cancer may spread throughout the esophagus and may extend beyond the edges of the primary tumor (distant metastases).

DESCRIPTION DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing: Definitive diagnosis is by esophagoscopy with visualization of the cancer and biopsy. Additional testing includes:

  • Barium swallow (esophagram);

  • CT scan of the chest, abdomen, and pelvis;

  • PET scan; and

  • Bone scan.

Physical findings: Individuals with esophageal cancer may present with:

  • Dysphagia (difficulty swallowing);

  • Weight loss;

  • GI bleed;

  • Epigastric or retrosternal area pain; and

  • Persistent cough.

ICD-9: 150.9

ICD-10: C16.9

PROGRESSION

The prognosis for esophageal cancer is not good regardless of the treatment employed. When esophageal cancer is found very early, there is a better chance of recovery. Esophageal cancer is often in an advanced stage when it is diagnosed. At later stages, esophageal cancer can be treated but rarely can be cured.

TREATMENT

Historically, treatment of esophageal cancer has been surgery. Recent multimodality therapy with radiation, chemotherapy and surgery has begun to play a major role in treatment.

SUGGESTED PROGRAMMATIC ASSESSMENT*
Suggested MER for Evaluation:
  • Clinical history and examination that describes the diagnostic features of the impairment;

  • Pathology report from esophagoscopy; and

  • Imaging reports.

Suggested Listings for Evaluation:
DETERMINATION

LISTING

REMARKS
Meets 13.16 A Esophageal Cancer meets the criteria in 13.16 A.
Equals
* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.156 Esthesioneuroblastoma

COMPASSIONATE ALLOWANCE INFORMATION

ESTHESIONEUROBLASTOMA

ALTERNATE NAMES

Olfactory Neuroblastoma; Skull Based Olfactory Neuroblastoma; Intracranial Olfactory Neuroblastoma; Recurrent Esthesioneuroblastoma

DESCRIPTION

Esthesioneuroblastoma is a rare cancer of the upper part of the nasal cavity called the cribriform plate, which is a bone deep in the skull between the eyes, and above the ethmoid sinuses. It develops in nerve tissue associated with the sense of smell and can occur in people of any age. This cancer is very uncommon, accounting for 7 percent of all cancers of the nasal cavity and paranasal sinuses. Although it generally grows slowly, an esthesioneuroblastoma can sometimes grow very quickly. Fast-growing tumors can metastasize (spread) even many years after treatment of the initial tumor.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing:

  • Physical examination of the eyes, nose and throat;

  • Endoscopy examination of the mouth and nose;

  • CT, MRI, or PET scan;

  • Biopsy; or

  • Laboratory testing of the blood and urine.

Physical findings: People with an esthesioneuroblastoma may present with:

  • Nasal obstruction;

  • Nosebleeds (epistaxis);

  • Changes in the sense of smell (hyposmia);

  • Nasal discharge (pus);

  • Facial pain;

  • Changes in vision;

  • Excessive tearing from the eyes (lacrimation);

  • Facial or tooth numbness;

  • Ear pain or pressure;

  • Enlarged lymph nodes in the neck; and

  • Difficulty opening the mouth.

ICD-9: 160.0

ICD-10: C30.0

PROGRESSION

Esthesioneuroblastoma usually begins in the part of the brain that interprets smell (olfactory bulb). This tumor may occur at any age, and tends to form behind the nose and may affect the sinuses. People with olfactory neuroblastomas may lose the sense of smell, have frequent nosebleeds, and may experience difficulties breathing through their nose.

TREATMENT

Esthesioneuroblastomas are treated with surgery, radiation, and chemotherapy depending on the response to treatment and metastasis. These treatments may affect eating, speaking, or breathing.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Clinical history and examination that describes the diagnostic features of the impairment;

  • Endoscopy reports;

  • CT/MRI and PET scan reports; and

  • Biopsy reports.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

13.13 A 2

Must be progressive or recurrent following initial antineoplastic therapy.

113.21 A, B, C, or D

Must either: extend across the midline, have distant metastases, be recurrent, or have onset at age 1 year or older.

Equals

13.13 B 1

Metastatic disease medically equals the criteria in listing 13.13 B 1. (Kadish classification system Stage D).

* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.163 Fibrolamellar Cancer

COMPASSIONATE ALLOWANCE INFORMATION

FIBROLAMELLAR CANCER

ALTERNATE NAMES Fibrolamellar Hepatocellular Carcinoma; Fibrolamellar Carcinoma; Eosinophilic Hepatocellular Carcinoma with Lamellar Fibrosis; Eosinophilic Hepatocellular Cancer with Lamellar Fibrosis; Polygonal Cell Hepatocellular Carcinoma with Fibrous Stroma; Polygonal Cell Hepatocellular Carcinoma with Fibrous Stroma; Polygonal Cell Hepatocellular Carcinoma with Fibrous Stroma; Polygonal Cell Hepatocellular Carcinoma with Fibrous Stroma; Polygonal Cell Hepatocellular Cancer with Fibrous Stroma; Hepatocellular Carcinoma with Increased Stromal Fibrosis; Hepatocellular Cancer with Increased Stromal Fibrosis; Eosinophilic Glassy Cell Hepatoma; Fibrolamellar Oncocytic Hepatoma; Fibrolamellar Variant of Hepatocellular Carcinoma; Fibrolamellar Variant of Hepatocellular Cancer; FL-HCC

DESCRIPTION

Fibrolamellar Carcinoma (FL-HCC) is a rare and aggressive form of liver cancer, which is generally diagnosed in adolescents and young adults (before age 40). Many people with early FL-HCC have no signs or symptoms of the condition. When present, symptoms are often nonspecific (i.e. abdominal pain, weight loss, malaise) and blamed on other, more common conditions. The exact underlying cause of FL-HCC is poorly understood, although a novel DNAJB1-PRKACA fusion gene resulting from a chromosome 19 mutation is present in most cases and distinguishes it from other liver cancers. FL-HCC cells are about three times larger than normal liver cells. Unlike other forms of liver cancer, FL-HCC typically occurs in the absence of underlying liver inflammation, scarring or infection by hepatitis B or C; thus, specific risk factors for this condition remain unidentified.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing: The diagnosis of FL-HCC is made by imaging study such as ultrasound, CT scan or MRI scan, and by microscopic evaluation of biopsy material.

Physical findings: The signs and symptoms of FL-HCC may include:

  • Abdominal pain;

  • Loss of appetite;

  • Weight loss;

  • Malaise;

  • Jaundice;

  • Nausea and/or vomiting;

  • Palpable liver mass;

  • Migratory thrombophlebitis or venous thrombosis; and

  • Gynecomastia (excessive breast tissue in males).

ICD- 9: 155.0

ICD-10: C22.0

PROGRESSION

The long-term prognosis for people with FL-HCC is generally better than other forms of liver cancer, particularly when treated with surgical resection. The reported 5-year survival rates range from 51 to 70% following liver resection.

The prognosis is less favorable in people with unresectable disease. The median survival of these patients is approximately 14 months. FL-HCC has a recurrence rate of about 50% within three years and about 80% within five years. Metastases to the lymph nodes and distant sites are present in about half of patients at diagnosis.

TREATMENT

FL-HCC is usually treated with surgery to remove the tumor and the surrounding lymph nodes (resection) the same as other hepatocellular carcinomas. Liver transplantation may be considered for individuals who are not candidates for surgical resection. The Food and Drug Administration (FDA) has approved the use of Sorafenib (Nexavar) an orphan chemotherapy drug for treatment of FL-HCC. However, Sorafenib has shown only limited efficacy against FL-HCC.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for evaluation:

  • Clinical history and examination that describes the diagnostic features of the impairment;

  • Pathology/biopsy report of the cancer; and

  • CT scan, MRI scan, or ultrasound reports.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

13.19

Meets 13.19 for adults.

113.03 Meets 113.03 for children with initial or recurrent disease.
Equals

 

* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

 

DI 23022.175 Gallbladder Cancer

COMPASSIONATE ALLOWANCE INFORMATION

GALLBLADDER CANCER

ALTERNATE NAMES

Cholangiocarcinoma; Klatskin Tumor; Biliary Duct Cancer

DESCRIPTION

Gallbladder Cancer includes cancers that are formed in tissues of the gallbladder and those originating in the bile ducts of the liver (biliary system). Gallbladder Cancer is a disease in which malignant (cancer) cells form in the innermost layer of the tissue and tissue and then spread through the outer layers. Bile Duct Cancer, also called cholangiocarcinoma, is a cancer that forms in a bile duct. Bile Duct Cancer may be found inside the liver (intrahepatic) or more commonly outside the liver (extrahepatic). Klatskin tumor is a type of cholangiocarcinoma that develops where the right and left bile ducts meet, as they exit the liver forming the common hepatic duct. Risk factors for Gallbladder Cancer are greatest for females and Native Americans.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing: Gallbladder Cancer is diagnosed with:

  • Ultrasound exam;

  • Blood tests including liver function tests, carcinoembryonic antigen (CEA) assay, and CA 19-9 assay;

  • CT scan; chest x-ray;

  • MRI;

  • MRA;

  • PTC;

  • Endoscopy;

  • Biopsy; and

  • Laparoscopy.

Physical findings: Individuals with gallbladder cancer may present with:

  • Jaundice;

  • Palpable mass in the right upper quadrant;

  • Periumbilical lymphadenopathy;

  • Left supraclavicular adenopathy, and

  • Unexplained weight loss.

Other symptoms may include:

  • Abdominal pain; Fever, nausea and vomiting;

  • Bloating;

  • Anorexia; and

  • Bloating.

ICD-9: 156.00

ICD-10: C22.1

PROGRESSION

Cholangiocarcinoma generally causes progressive liver failure. Gallbladder Cancer can invade the liver or it can disseminate into lymph nodes or can spread as intra-peritoneal metastases.

TREATMENT

Cholangiocarcinoma and Gallbladder Cancer can be cured only if the disease is found before it has spread and it can be removed by surgery. Cholangiocarcinoma (tumor) usually cannot be completely removed by surgery and is incurable. If the cancer has spread, palliative treatment can improve the patient's quality of life by controlling the symptoms and complications of this disease.
SUGGESTED PROGRAMMATIC ASSESSMENT*
Suggested MER for Evaluation:
  • Clinical history and examination that describes the diagnostic features of the impairment;

  • Imaging (e.g. x-ray, MRI, MRA, CT scans);

  • Results of ultrasound testing;

  • Results of blood chemistry testing;

  • Operative report; and

  • Pathology report.

Suggested Listings for Evaluation:
DETERMINATION

LISTING

REMARKS
Meets 13.19 Cholangiocarcinoma and Gallbladder Cancer meet the criteria in 13.19.
Equals
* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.180 Gaucher Disease (GD) - Type 2

COMPASSIONATE ALLOWANCE INFORMATION

GAUCHER DISEASE (GD) - Type 2

ALTERNATE NAMES

Gaucher Disease-Type 2; GD2; Gaucher Disease, Infantile Cerebral; Gaucher Disease, Acute Neuronopathic Type; Disease-Type 2; GD2; Gaucher Disease, Infantile Cerebral; Gaucher Disease, Acute Neuronopathic Type; Gaucher Syndrome Type 2

DESCRIPTION

Gaucher Disease (GD) is an inherited metabolic disorder in which harmful quantities of a fatty substance called glucocerebroside accumulate in the spleen, liver, lungs, bone marrow, and sometimes in the brain. In GD Type 2, liver and spleen enlargement are apparent by 3 months of age. Children have extensive and progressive brain damage and usually die by 2 years of age. All individuals with GD exhibit a deficiency of an enzyme called glucocerebrosidase that is involved in the breakdown and recycling of glucocerebroside. The buildup of this fatty material within cells prevents the cells and organs from functioning properly. GD is one of several lipid storage diseases.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing: The diagnosis of GD relies on demonstration of deficient enzyme activity in peripheral blood leukocytes or other nucleated cells. Identification of two disease-causing alleles in GBA, the only gene known to be associated with GD, provides additional confirmation of the diagnosis but not in lieu of biochemical testing. Molecular genetic testing using sequence analysis identifies mutations in the majority of affected individuals.

Blood chemistry testing demonstrating a deficit in the enzymatic activity of glucocerebrosidase is definitive genetic testing for mutations in the GBA gene.

Physical findings: Individuals with this impairment may have:

  • Seizures;

  • Skeletal irregularities;

  • Delayed growth and physical development;

  • Eye movement disorders;

  • Cognitive problems;

  • Poor coordination;

  • Spasticity;

  • Poor ability to suck and swallow;

  • Enlarged liver and spleen;

  • Skin abnormalities;

  • Respiratory difficulties; and

  • Blood disorders.

ICD-9: 272.7

ICD-10: E75.22

PROGRESSION

The prognosis for children with GD Type 2 with onset before age two years is limited psychomotor development and a rapidly progressive course with death by age two to four years.

TREATMENT

There is no effective treatment for the severe brain damage that may occur in children with GD Type 2.

SUGGESTED PROGRAMMATIC ASSESSMENT*
Suggested MER for Evaluation:
  • Enzyme assay level of glucocerebrosidase activity of less than 15%, physical findings of hepatosplenomegaly, and evidence of progressive neurodevelopmental delay;

  • Clinical history and examination that describes the diagnostic features of the impairment;

  • Results of blood chemistry testing; and

  • Genetic testing for mutations in the GBA gene.

Suggested Listings for Evaluation:
DETERMINATION

LISTING

REMARKS
Meets 110.08 B Catastrophic congenital abnormalities or disease.
Equals
* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.185 Glioblastoma (Adult Brain Cancer)

COMPASSIONATE ALLOWANCE INFORMATION

GLIOBLASTOMA ( ADULT BRAIN CANCER )

ALTERNATE NAMES

Glioblastoma Adult Brain Tumor; GBM; Grade IV astrocytoma; Glioblastoma Multiforme; Diffuse Midline Glioma; H3K27M-Mutant; Giant Cell Glioblastoma; Gliosarcoma; Gliosarcoma, IDH Wildtype; Glioblastoma, IDH Wildtype; Glioblastoma, IDH Mutant; Glioblastoma, NOS

DESCRIPTION

Glioblastoma is a fast-growing type of central nervous system cancer that forms from glial (supportive) tissue of the brain and spinal cord and has cells that look very different from normal cells. It spreads aggressively throughout the brain tissue and is the most malignant of the primary brain cancers. In consequence, these cancers are difficult to treat and often recur after initial therapy. Glioblastoma most often occurs in adults between the ages of 45 and 70 years and affects the brain more often than the spinal cord.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9–CM/ICD-10-CM CODING

Diagnostic testing: Diagnosis is based on:

  • Patient history;

  • Neurological examination; and

  • Diagnostic procedures.

The only definitive test that can provide a diagnosis of glioblastoma is a biopsy of the cancer. Testing to confirm diagnosis of glioblastoma includes neuroimaging (CT and MRI) to provide information about the location, size and shape of the cancer.

Physical findings: Individuals with this impairment may present with:

  • Slowly progressive neurologic deficits;

  • Motor weakness; Increased intracranial pressure including headaches, nausea, and vomiting, and cognitive impairments;

  • Changes in mood and personality; and

  • Seizures.

ICD-9: 191.9

ICD-10: C71.9

PROGRESSION

Glioblastoma is highly aggressive, infiltrating, and responds poorly to all currently available treatments. The prognosis is grim, as most patients die within 2 years and few survive longer than three years.

TREATMENT

Treatment of glioblastoma may include the following: surgery, radiation and/or chemotherapy.

SUGGESTED PROGRAMMATIC ASSESSMENT*
Suggested Listings for Evaluation:
  • Pathology report of the cancer biopsy or surgical specimen is the critical information necessary for disability evaluation;

  • Clinical history and examination that describes the diagnostic features of the impairment;

  • Pathology reports;

  • Operative reports; and

  • Results of neuroimaging (e.g. CT scan, MRI scan).

Suggested Listings for Evaluation:
DETERMINATION

LISTING

REMARKS
Meets 13.13 A 1

113.13 A

Equals
* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.200 Inflammatory Breast Cancer

COMPASSIONATE ALLOWANCE INFORMATION

INFLAMMATORY BREAST CANCER

ALTERNATE NAMES

Inflammatory Breast Carcinoma; IBC

DESCRIPTION

Inflammatory Breast Cancer (IBC) is a type of breast cancer in which the breast looks red and swollen and feels warm. The skin of the breast may also show the pitted appearance called peau d ‘orange (like the skin of an orange). The redness and warmth occur because the cancer cells block the lymph vessels in the skin. IBC accounts for 1 to 5% of all breast cancer cases in the United States. It tends to be diagnosed in younger women compared to non-IBC breast cancer. It occurs more frequently and at a younger age in the African American population than in the White population. Like other types of breast cancer, IBC can occur in men, but usually at an older age than in women.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing:

  • Imaging and staging tests including a diagnostic mammogram and an ultrasound of the breast and regional lymph nodes;

  • PET scan, CT, or bone scan to determine extent of metastases; and

  • A biopsy is obtained and generally shows pathologic dermal lymphatic invasion.

Physical findings: Individuals with this impairment may present with:

  • A rapid onset of erythema (redness), edema (swelling), and a peau d‘orange appearance (ridged or pitted skin);

  • There also may be a heaviness with increase in breast size, abnormal breast warmth, with or without a lump that can be felt; and

  • Swollen lymph nodes may be present under the arm or above the collarbone, but this may also be present in infection or injury.

ICD-9: 174.9

ICD-10: C50.91

PROGRESSION

IBC is more likely to have metastasized (spread to other areas of the body) at the time of diagnosis than non-IBC cases. As a result of this and the general aggressive nature of the disease, the 5-year survival rate for patients with IBC is between 25 and 50%, which is significantly lower than the survival rate for patients with non-IBC breast cancer.

TREATMENT

Treatment for IBC consists of chemotherapy, targeted therapy, surgery, radiation therapy, and hormonal therapy. Individuals may also receive supportive care to help manage the side effects of the cancer and its treatment. Chemotherapy is generally the first treatment for individuals with IBC; and when given prior to surgery, is called neoadjuvant therapy. The use of this neoadjuvant treatment has dramatically improved response rate, although long-term overall survival is still worse as compared with other forms of breast cancer. After chemotherapy, individuals may undergo surgery and radiation therapy to the chest wall. Both radiation and surgery are local treatments that affect only cells in the tumor and the immediately surrounding area. After initial systemic and local treatment, patients with IBC may receive additional systemic treatments to reduce the risk of recurrence.

SUGGESTED PROGRAMMATIC ASSESSMENT*
Suggested MER for Evaluation:
  • Clinical documentation of the characteristic changes of the skin as described above and a pathology report with a diagnosis of malignancy;

  • Clinical history and examination that describes the diagnostic features of the impairment;

  • Pathology reports;

  • Operative reports; and

  • Results of imaging tests (e.g. Diagnostic mammogram, PET scan, CT scan, or bone scans).

Suggested Listings for Evaluation:
DETERMINATION

LISTING

REMARKS
Meets 13.10 A Inflammatory Breast Cancer currently meets the criterion in 13.10 A.
Equals
* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.201 Intracranial Hemangiopericytoma

COMPASSIONATE ALLOWANCE INFORMATION

INTRACRANIAL HEMANGIOPERICYTOMA

ALTERNATE NAMES

Primary Intracranial Hemangiopericytoma; Infantile Intracranial Hemangiopericytoma; Multifocal Intracranial Hemangiopericytoma; Solitary Fibrous Tumor; SFT; Mesenchymal Tumor; Non-Meningothelial Tumor

DESCRIPTION

Intracranial Hemangiopericytoma (HPC) is a rare, malignant meningothelial tumor with a high proclivity toward recurrence and metastasis. Hemangiopericytomas are tumors of vascular origin, usually occurring in the musculoskeletal system and the skin; intracranial location is uncommon. HPC can occur at any age, but tumors are rare in childhood; and are even rarer in the first year of life (infantile intracranial HPC). Sometimes HPCs are accompanied by paraneoplastic syndrome and hypoglycemia. Clinical presentation relates to CNS tumor mass effect or seizures, intracranial hemorrhage, nausea, headache, projectile vomiting and focal neurological deficit. The World Health Organization classifies HPC as a grade II and grade III cancer.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing: Diagnostic testing for HPC includes:

  • A biopsy to confirm the diagnosis;

  • Blood tests; and

  • Diagnostic imaging scans which may include: computerized tomography (CT) scan, Magnetic Resonance Imaging (MRI), PET scans, and nucleotide scans.

Physical findings : Physical findings of HPC depend on the site of the tumor and degree of metastases.

ICD-9: 191.X and other codes depending upon site

ICD-10: M85.00

PROGRESSION

HPC may occur in children or adults. The prognosis is poor if there are metastases to other sites. HPC may metastasize many years after initial onset and requires long-term follow-up.

TREATMENT

HPC is treated with surgery, chemotherapy and radiotherapy, depending on the grade, size, and location of the tumor.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Clinical history and examination that describes the diagnostic features of the disorder and laboratory findings are needed to confirm the diagnosis;

  • Oncology consultation reports;

  • Imaging studies;

  • Biopsy reports; and

  • Pathology reports.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

13.13 A

Evaluate under 13.13 A 1 if grade III. Evaluate under 13.13 A 2 if grade II. When evaluating under 13.13 A 2, the cancer must be progressive or recurrent following initial antineoplastic therapy.

113.13

Equals

* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.205 Kidney Cancer

COMPASSIONATE ALLOWANCE INFORMATION

KIDNEY CANCER

ALTERNATE NAMES

Kidney Carcinoma; Renal Cell Cancer; RCC; Renal Cell Carcinoma; Wilms Tumor; Renal Pelvis Carcinoma; Renal Adenocarcinoma; Clear Cell Sarcoma of the Kidney; Rhabdoid Tumor of the Kidney; Neuroepithelial Tumor of the Kidney; Diffuse Hyperplastic Perilobar Nephroblastomatosis; Transitional Cell Carcinoma; Urothelial Carcinoma; Hypernephroma

DESCRIPTION

Kidney Cancer is cancer that forms in tissues of the kidneys (renal cells). Kidney Cancer develops most often in people over 40, but no one knows the exact causes of this disease. Smoking and misuse of certain pain medicines including over-the-counter pain medicines for a long time can affect the risk of developing renal cell cancer. Also, certain genetic conditions, such as von Hippel-Lindau disease or hereditary papillary renal cell carcinoma put a person at risk for this disease. These genetic variations account for a small number of cases, approximately 5%. Clear Cell Sarcoma of the Kidney is a rare type of kidney cancer, in which the inside of the cells look clear when viewed under a microscope. Clear Cell Sarcoma can spread from the kidney to other organs, most commonly the bone, but also the lungs, brain, and soft tissues of the body.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic Testing: Diagnostic testing may include physical exam and history, blood chemistry studies, urinalysis, liver function tests, intravenous pyelogram (IVP), ultrasound exam, CT scan, MRI, and biopsy.

Physical findings: There may be no symptoms of Kidney Cancer in the early stages. Symptoms may appear as the tumor grows. Symptoms include:

  • Fever;

  • Blood in the urine;

  • A lump in the abdomen;

  • Pain in the side that does not go away;

  • Loss of appetite;

  • Weight loss; and

  • Anemia.

ICD-9: 189.0,189.1, 233.9

ICD-10: C7A.093

PROGRESSION

Generally, if the disease is limited and surgery removes the disease, 5-year survival is good. However, when the disease is inoperable, unresectable, or metastatic, prognosis is poor.

TREATMENT

Standard treatment for Kidney Cancer includes surgery to remove all or part of the kidney, radiation therapy, chemotherapy, biologic therapy, and targeted therapy.

An individual can live with part of one working kidney, but if both kidneys are removed or not working, the person will need dialysis (a procedure to clean the blood using a machine outside of the body) or a kidney transplant (replacement with a healthy donated kidney). A kidney transplant may be done when the disease is in the kidney only and a donated kidney can be found.

Targeted therapy uses drugs or other substances that can find and attack specific cancer cells without harming normal cells. Antiangiogenic agents are a type of targeted therapy that may be used to treat advanced Kidney Cancer. They keep blood vessels from forming in a tumor, causing the tumor to starve and stop growing or to shrink.

SUGGESTED PROGRAMMATIC ASSESSMENT*
Suggested MER for Evaluation:
  • Clinical note from a surgeon that the cancer is inoperable; and

  • Surgical pathology report that the cancer was not completely removed and that the surgical margins were positive for malignancy.

“Inoperable” refers to a physician's opinion that surgery would not be beneficial based on a review of imaging studies, laboratory results, and physical examination findings.

“Unresectable” cancer is established when the operative report indicates that the cancer is not completely removed or the pathology report notes that the surgical specimen has positive margins.

Suggested Listings for Evaluation:

DETERMINATION LISTING REMARKS
Meets 13.21 A Biopsy proof of Kidney Cancer and clinical note stating tumor is inoperable or pathology report or operative note indicating tumor was unresectable or had positive surgical margin.
Equals
* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

 

DI 23022.215 Large Intestine Cancer

COMPASSIONATE ALLOWANCE INFORMATION

LARGE INTESTINE CANCER

ALTERNATE NAMES

Colon Cancer; Colon Carcinoma; Colorectal Cancer; Colorectal Carcinoma; Rectal Cancer; Rectal Carcinoma; Large Bowel Cancer; Large Bowel Carcinoma; Large Intestine Adenocarinoma; Colon Adenocarcinoma

DESCRIPTION

Large Intestine Cancer forms in the tissues of the colon. Most colon cancers are adenocarcinomas. When Large Intestine Cancer spreads outside the colon or rectum, cancer cells are often found in nearby lymph nodes. If cancer cells have reached these nodes, they may also have spread to other lymph nodes or other organs. Large Intestine Cancer cells most often spread to the liver.

Large Intestine Cancer is more likely to occur as people age. More than 90% of diagnoses are made after age 50 and the average age at diagnosis is 72.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing: The following may be used to diagnose the disease:

  • Fecal occult blood test (FOBT);

  • Sigmoidoscopy;

  • Colonoscopy;

  • Double-contrast barium enema; or

  • Digital rectal exam.

The following tests and procedures may be used to determine if the Large Intestine Cancer has spread:

  • CT scan, lymph node biopsy;

  • Carcinoembryonic antigen (CEA) assay;

  • MRI; or

  • Surgery.

In the absence of these reports, the adjudicator may use a physician's opinion that indicates the cancer is inoperable or unresectable based on described objective findings.

Physical findings: Some signs and symptoms of Large Intestine Cancer include:

  • Changes in bowel habits, including diarrhea or constipation or a change in consistency of stool that lasts longer than four weeks;

  • Rectal bleeding or blood in stool;

  • Persistent abdominal discomfort, such as cramps, gas, or pain;

  • A feeling that your bowel doesn’t empty completely;

  • Weakness or fatigue; and

  • Unexplained weight loss.

Many people experience no symptoms in the early stages of the disease. When symptoms appear, they will likely vary, depending on the cancer’s size and location in the large intestine.

ICD-9: 153.9, 154.8, 230.3, 230.4, 795.81

ICD-10: C7A.029

PROGRESSION

Large Intestine Cancer is the second leading cause of death from cancer in the United States. Inoperable or unresectable cancer of the Large Intestine may progress locally and cause intestinal obstruction, uncontrolled GI bleeding, or severe pain from invasion into the sacral nerve plexus.

TREATMENT

Surgical resection is the mainstay of treatment, and may be followed by chemotherapy. Approximately 50% of patients are cured with surgery.

S UGGESTED PROGRAMMATIC ASSESSMENT*
Suggested MER for Evaluation:
  • A pathology report and an operative report are the preferred methods for documentation;

  • Clinical note from a surgeon that the cancer is inoperable; and

  • Surgical pathology report that the cancer was not completely removed and that the surgical margins were positive for malignancy.

“Inoperable” refers to a physician's opinion that surgery would not be beneficial based on a review of imaging studies, laboratory results, and physical examination findings.

 

“Unresectable” cancer is established when the operative report indicates that the cancer is not completely removed or the pathology report notes that the surgical specimen has positive margins.
Suggested Listings for Evaluation:
DETERMINATION LISTING REMARKS
Meets 13.18 A Satisfies the criteria in 13.18 A with clinical note stating tumor is inoperable or pathology report or operative note indicating tumor was unresectable or had positive surgical margin.
13.18 C Satisfies the criteria in 13.18 C if metastases beyond the regional lymph nodes.
Equals
* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.216 Leptomeningeal Carcinomatosis

COMPASSIONATE ALLOWANCE INFORMATION

LEPTOMENINGEAL CARCINOMATOSIS

ALTERNATE NAMES

Leptomeningeal Cancer; Neoplastic Meningitis; Carcinomatous Meningitis; Leptomeningeal Metastasis; Leptomeningeal Carcinoma; Meningeal Metastasis

DESCRIPTION

Leptomeningeal Carcinomatosis (LC) is a rare complication of cancer in which cancerous cells spread to the membranes (meninges) that covers the brain and spinal cord. It occurs when cancer cells from other parts of the body, such as the breast, colon, kidney, lungs, and skin metastasize and implant into the covering of the brain and spinal cord.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing: The diagnosis of LC is made with lumbar puncture with positive CSF (cerebral spinal fluid) cytology; and gadolinium enhanced multiplanar MRI of the brain, spinal cord, cauda equina, or subependymal areas.

Physical findings: Clinical features of this disease include:

  • Headaches;

  • Nausea;

  • Vomiting;

  • Light-headedness;

  • Gait difficulties;

  • Ataxia;

  • Memory problems;

  • Incontinence; and

  • Sensory abnormalities.

ICD-9: 349.2

ICD-10: C80.0

PROGRESSION

LC occurs in approximately 5% of people with cancer and is usually terminal. If left untreated, the median survival is 4-6 weeks; if treated, the median survival is 7 months for people with LCs from the breast, and approximately 4 months for people with LCs from small-cell lung carcinomas and melanomas.

TREATMENT

The treatment of LC is symptom-specific and palliative. Most people with LC are treated with surgery, radiation, and chemotherapy. Individuals with this disorder are often prescribed analgesics with opioids, anticonvulsants for seizures, antidepressants, and anxiolytics.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Clinical history and examination that describes the diagnostic features of the impairment;

  • Imaging reports of the brain, spinal cord, cauda equina or subepedymal areas showing leptomeningeal enhancement or CSF flow obstruction; and

  • Biopsy reports.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

13.00

Listing level severity must be documented; recommend allowance under primary malignant tumor listing requiring distant metastasis.

13.13 A

LC with medulloblastomas or other primitive neuroectodermal tumors (PNETs) meets the criteria in listings 13.13 A 1. LC in grade II brain cancers meets the criteria in listing 13.13 A 2 if progressive or recurrent following initial antineoplastic therapy. PNETs are also known as embryonal tumors with multilayer rosettes (ETMRs) due to recent changes in the World Health Organization classification of tumors of the central nervous system.

13.27

LC meets the criteria in listing 13.27 when the primary site is unknown.

113.00

Listing level severity must be documented; recommend allowance under primary malignant tumor listing requiring distant metastasis.

113.13 A

LC with medulloblastomas or other primitive neuroectodermal tumors (PNETs) meets the criteria in listings 113.13. PNETs are also known as embryonal tumors with multilayer rosettes (ETMRs) due to recent changes in the World Health Organization classification of tumors of the central nervous system.

Equals

13.13 A

LC in child grade II brain cancers medically equals the criteria in listing 13.13 A 2 if progressive or recurrent following initial antineoplastic therapy.

* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.221 Liposarcoma - Metastatic or Recurrent

COMPASSIONATE ALLOWANCE INFORMATION

LIPOSARCOMA

ALTERNATE NAMES

Dedifferentiated Liposarcoma; Pleomorphic Liposarcoma; Inflammatory Liposarcoma; Spindle Cell Liposarcoma; Myxoid Liposarcoma

DESCRIPTION

Liposarcoma is a tumor that arises from fat tissue. The exact cause of liposarcoma is unknown but probably is related to genetic mutations. This tumor most often occurs in the extremities, but can be found in other parts of the body. Liposarcomas occur in tissue that is elastic and easily moved causing the tumors to exist a long time before symptoms become evident. Liposarcomas may start out as benign tumors, but later become malignant tumors and grow into surrounding tissues or organs. The most common subtypes of liposarcomas are well-differentiated, myxoid, pleomorphic, and dedifferentiated. Liposarcoma that is metastatic or recurrent is considered an aggressive tumor because it often spreads to other parts of the body. Some subtypes are prone to metastasis or recurrence. For example, distant metastases occur in nearly half of pleomorphic liposarcomas; recurrence in about 40% of dedifferentiated liposarcomas.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing:

  • X-ray or MRI of the affected areas; and

  • Histologic examination of tissue by needle or surgical biopsy.

Physical findings: People with a liposarcoma may present with:

  • Painless swelling or a mass on the body that tends to be large, firm, and near underlying structures;

  • Pain or soreness caused by compressed nerves or muscles;

  • Limping or difficulties using the legs, feet, arms or hands; and

  • Reduced range of motion in the affected areas.

ICD-9: 171.X Depends on the location of the tumor

ICD-10: C80.1

PROGRESSION

Liposarcomas most often occur in people between the ages of 40 years of age to 60 years of age. It may also occur in children during the teenage years. The prognosis of liposarcoma varies and is based on the size, location, and recurrence of the tumors.

TREATMENT

The treatment for liposarcoma depends on the type, size, and location of the tumor, recurrence, and spread (metastasis) of the tumor. A combination of surgery and radiation therapy is most often used.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Clinical history and examination that describes the diagnostic features of the impairment;

  • Biopsy reports; and

  • Imaging reports.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

13.04 A or B;

Regional or distant metastases meets 13.04 A; recurrent disease meets 13.04 B.

113.03

Equals

* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.225 Liver Cancer

COMPASSIONATE ALLOWANCE INFORMATION

LIVER CANCER

ALTERNATE NAMES

Hepatocellular (Liver) cancer; Intrahepatic Bile Duct Cancer; Liver Cancer; Hepatocellular Carcinoma

DESCRIPTION

Two of the most common forms of Liver Cancer are Hepatocellular Carcinoma and Intrahepatic Bile Duct Cancer. Hepatocellular Carcinoma is a type of adenocarcinoma that forms in the tissues of the liver. The following are possible risk factors for Hepatocellular Carcinoma: having hepatitis B or hepatitis C; having a close relative with both hepatitis and liver cancer; having alcoholic cirrhosis; hemochromatosis; and eating foods tainted with aflatoxin (poison from a fungus that can grow on foods, such as grains and nuts that have not been stored properly). Intrahepatic Bile Duct Cancer arises within the liver bile ducts and may be multifocal.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing: Diagnosis of Hepatocellular Carcinoma includes a clinical examination, which includes a medical history and a thorough physical examination. Many blood tests may be used to check for liver problems. For example, one blood test detects alpha-fetoprotein (AFP). High AFP levels could be a sign of liver cancer. Several tests may be performed including CT scan, ultrasound test, MRI, angiogram, and biopsy.

Physical findings: Hepatocellular Carcinoma is sometimes called a “silent disease” because in an early stage it often does not cause symptoms. But, as the cancer grows, symptoms may include:

  • Pain in the upper abdomen on the right side;

  • Pain that may extend to the back and shoulder;

  • Swollen abdomen (bloating);

  • Weight loss;

  • Loss of appetite and feelings of fullness;

  • Weakness or feeling very tired;

  • Nausea and vomiting;

  • Yellow skin and eyes, and dark urine from jaundice; and

  • Fever.

I CD-9: 155.0, 155.1, 230.8

ICD-10: 22.0

PROGRESSION

Hepatocellular Carcinoma is rarely discovered early and often does not respond to current treatments-thus, the prognosis is often poor. For patients with advanced disease, care is focused on keeping the patient as comfortable as possible. Palliative therapy aims to improve the quality of a person's life by controlling pain and other problems caused by the disease.

TREATMENT

Hepatocellular Carcinoma can be cured only when it is found at an early stage (before it has spread) and only if the patient is healthy enough to have surgery. However, treatments other than surgery may be able to control the disease and help patients live longer and feel better. The choice of treatment depends on the condition of the liver; the number, size, and location of tumors; and whether the cancer has spread outside the liver. Options include surgery, radiation therapy, chemotherapy, percutaneous ethanol injections, and hepatic arterial infusions. For a few patients, liver transplantation may be an option.

SUGGESTED PROGRAMMATIC ASSESSMENT*
Suggested MER for Evaluation:
  • A pathology report stating that hepatocellular carcinoma is present in a biopsy specimen; or

  • A MRI or CT scan showing liver abnormalities compatible with hepatocellular carcinoma along with elevated alpha-feto-protein meeting the requirements under the diagnostic testing above.

Suggested Listings for Evaluation:
DETERMINATION

LISTING

REMARKS
Meets 13.19 Prognosis is poor based on confirmed diagnosis alone
Equals
* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

 

DI 23022.226 Malignant Ectomesenchymoma

COMPASSIONATE ALLOWANCE INFORMATION

MALIGNANT ECTOMESENCHYMOMA

ALTERNATE NAMES

Mature Ectomesenchymoma; Gangliorhabdomyosarcoma; Rhabdomyosarcoma with Ganglionic Differentiation

DESCRIPTION

Malignant Ectomesenchymoma is a rare, potentially aggressive tumor with sarcoma-like cellular features. Medical or pathology reports may describe it as a primitive neuroectodermal tumor (PNET) or embryonal tumor with multilayer rosettes (ETMR). It may originate in the central nervous system or soft tissue of the head and neck, abdomen, perineum, scrotum or limbs. It occurs mostly in children.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing: Testing for malignant ectomesenchymoma tumors includes:

  • Imaging studies (CT, MRI, or nucleide scans such as liver-spleen scans);

  • Spinal tap for cerebrospinal fluid cytology;

  • Urinary catecholamines; and

  • Bone marrow biopsy.

Physical findings: Depends on the location of the tumor.

ICD-9: 191.X and other codes, depending upon site

ICD-10: C71.9

PROGRESSION

These tumors largely affect children under 15 years of age and about 20% are found in adults. Increasing experience with the treatment of malignant ectomesenchymoma via appropriate surgical approaches, and combination chemotherapy and radiotherapy, may offer a better prognosis for children presenting with this rare and complex tumor.

TREATMENT

The treatment of this type of tumor depends on the stage of the cancer at the time of diagnosis, the amount of tumor remaining after surgery to remove it or whether the tumor has spread to other places in the body (metastases), age of the individual at the time of diagnosis, recurrence, and response to chemotherapy and/or radiation therapy.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for evaluation:

  • Clinical history and examination that describes the diagnostic features of the impairment;

  • Copies of imaging reports describing the type and stage of the tumor;

  • Laboratory findings; and

  • Biopsy reports.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

13.04

Meets 13.04 in adults if originating outside of the brain and has metastases or is recurrent.

13.13 A 3

Meets the criteria in listings 13.13 A 3 if originating in the brain and has documented metastases; also meets 13.13 A 3 in adults if it is recurrent cancer.

113.03

Meets the criteria in listing 113.03 in children when originating outside of the brain.
113.13 C

Meets the criteria in 113.13 C in children if originating in the brain and has documented metastases; also meets 113.13 C in children if it is recurrent cancer.

Equals

 

* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.227 Malignant Renal Rhabdoid Tumor

COMPASSIONATE ALLOWANCE INFORMATION

MALIGNANT RENAL RHABDOID TUMOR

ALTERNATE NAMES

Malignant Rhabdoid Tumor of the Kidney; Malignant RT

DESCRIPTION

Malignant Renal Rhabdoid Tumor (MRRT) is a rare malignant tumor that can develop in many types of organs and tissues, but occurs primarily in the kidney or brain. It is a highly aggressive cancer mostly affecting children. MRRTs are caused by genetic mutations in chromosome 22 and mutations in the SMARCB1/INI1 gene.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing: The diagnosis of MRRT is made by:

  • Biopsy with histology reports;

  • Molecular genetic testing--usually chromosome microarray analysis or fluorescent in situ hybridization (FISH) test analysis documenting the 22q11.1 deletion; and

  • Imaging studies such as, chest CT, abdominal ultrasound.

MRI, CT, or PET scan imagining of the brain and bone scan are warranted when evidence of metastases .

Physical findings: People with MRRTs may present with signs and symptoms related to an intra-renal or large intra-abdominal mass.

Children with this tumor may present with:

  • Pain;

  • High blood pressure;

  • Hematuria;

  • Fever;

  • Synchronous or metachronous CNS lesions; and

  • Metastases and secondary primary cancers.

ICD-9: 189.0

ICD-10: C79.0

PROGRESSION

MRRTs are very aggressive tumors that have a poor prognosis with mortality generally within 12 months of diagnosis. These tumors tend to occur in children under the age of two years.

TREATMENT

Depending on the size and location of the tumor, treatment of MRRT generally consists of surgical tumor removal, and chemotherapy. Treatment of children with malignant rhabdoid tumors will require treatment planning by a multidisciplinary team consisting of pediatric oncologists, pediatric surgeon or urologist, radiation oncologist, pediatric geneticist, social worker, or nutritionist.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Clinical history and examination that describes the diagnostic features of the impairment; and

  • Laboratory findings are needed to confirm the diagnosis.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

13.21

Inoperable, unresectable, metastatic, or recurrent disease in adults meets the criteria in listing 13.21.

113.03

Confirmed diagnosis of the original tumor or recurrence in children meets the criteria in listing 113.03.

Equals

* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.230 Mantle Cell Lymphoma (MCL)

COMPASSIONATE ALLOWANCE INFORMATION

MANTLE CELL LYMPHOMA (MCL)

ALTERNATE NAMES

MCL; LCM; Mantle zone lymphoma

DESCRIPTION

Mantle Cell Lymphoma (MCL) is an aggressive (fast-growing) type of B-cell non-Hodgkin's lymphoma. Non-Hodgkin's lymphomas are related malignancies (cancers) that affect the lymphatic system. It is marked by small to medium-size cancer cells that may be in the lymph nodes, spleen, bone marrow, blood, and gastrointestinal system. MCL is a B-cell lymphoma that develops from malignant B-lymphocytes within a region of the lymph node known as the "mantle zone." MCL results from errors in the production of a lymphocyte or transformation of a lymphocyte into a malignant cell. Abnormal, uncontrolled growth and multiplication (proliferation) of malignant lymphocytes may lead to enlargement of a specific lymph node region or regions; involvement of other lymphatic tissues, such as the spleen and bone marrow; and spread to other bodily tissues and organs, potentially resulting in life-threatening complications. The specific symptoms and physical findings may vary from case to case, depending upon the extent and region(s) of involvement and other factors. MCL primarily affects men over the age of 50 years. Many affected individuals have widespread disease at diagnosis, with involved regions often including multiple lymph nodes, the spleen, and, potentially, the bone marrow, the liver, and/or regions of the digestive (gastrointestinal) tract.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing: MCL diagnosis is obtained by pathologic review of a lymph node biopsy or bone marrow specimen. This usually includes flow cytometry testing and chromosomal analysis, which show CD5-positive cells, cyclin D1 protein over expression, and translocation of chromosomes 11 and 14.

Physical findings: Some physical findings with MCL may include:

  • Loss of appetite and weight;

  • Fever;

  • Night sweats;

  • Nausea or vomiting;

  • Swollen lymph nodes in the neck, armpits, or groin;

  • Heartburn;

  • Belly pain;

  • Bloating; and

  • A sense of fullness or discomfort from enlarged tonsils, liver or spleen.

ICD-9: 200.3, 200.4, 200.40, 200.41, 200.42, 200.43, 200.44, 200.45, 200.46, 200.47, 200.48, 202.8

ICD-10: C83.10

PROGRESSION

MCL is characterized by an extremely poor prognosis. This cancer has the shortest average survival of all lymphoma types. Long-time survivors are rare, only very few patients with an overall survival over 10 years have been reported. Since MCL is expected to recur no matter what chemotherapy is used, viable lymphoma (microscopic in many cases) must be presumed to persist after chemotherapy even when the patient has an initial complete remission.

TREATMENT

Chemotherapy and radiation therapy are used for palliation with variable degrees of success.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • The diagnosis of MCL is usually based on the pathology report from a lymph node or bone marrow specimen.

Suggested Listings for Evaluation:
DETERMINATION

LISTING

REMARKS
Meets 13.05 D A pathology report is the only evidence required to adjudicate the listing.

113.05 D

A pathology report is the only evidence required to adjudicate the listing.
Equal s
* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.231 Marshall-Smith Syndrome

COMPASSIONATE ALLOWANCE INFORMATION

MARSHALL-SMITH SYNDROME

ALTERNATE NAMES

MSS

DESCRIPTION

Marshall-Smith Syndrome (MSS) is a genetic disorder characterized by accelerated skeletal maturation, failure to thrive, respiratory difficulties, dysmorphic facial features, and moderate to severe developmental delay with absent or limited speech and unusual behavior. The exact cause of this disorder is unknown, and no specific chromosomal abnormalities have been identified. This condition is not the same as Marshall syndrome, which is a different genetic syndrome.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing: Imaging studies showing accelerated bone maturation, or minor brain abnormalities such as hypoplasia of the corpus callosum.

Physical findings: People with MSS may present with:

  • Short stature;

  • Kyphoscoliosis;

  • Nontraumatic fractures;

  • Failure to thrive;

  • Developmental delay or intellectual disability;

  • Respiratory compromise;

  • Unusual facies with wide and prominent forehead (frontal bossing); protruding and widely spaced eyes (proptosis);

  • Depressed nasal bridge;

  • Small upturned nose; and

  • Micrognathia (abnormally small jaws).

ICD-9: 759.89

ICD-10: C87.0

PROGRESSION

MSS abnormalities usually begin before birth. Symptoms in children vary in degrees of severity. Mortality is associated with respiratory complications caused by structural problems in the respiratory tract and complications from pneumonia. Children surviving infancy may have developmental delays and intellectual impairment.

TREATMENT

There is no cure for MSS. Treatment is symptom specific and supportive. Children with MSS are treated with aggressive management of early respiratory and feeding difficulties.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Clinical history and examination that describes the diagnostic features of the impairment;

  • Imaging of the skeleton showing accelerated osseous maturation; and

  • Brain imaging showing minor abnormalities such as hypoplasia or absence of the corpus callosum.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

100.05

Listing-level severity must be documented; may also need to evaluate under the Musculoskeletal, Respiratory, and Mental body systems.

103.06

Listing-level severity must be documented; may also need to evaluate under the Musculoskeletal, Respiratory, and Mental body systems.

Equals

2.09

Refer to SSR 98-1p.

* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.233 Megacystis Microcolon Intestinal Hypoperistalsis Syndrome

COMPASSIONATE ALLOWANCE INFORMATION

MEGACYSTIS MICROCOLON INTESTINAL HYPOPERISTALSIS SYNDROME

ALTERNATE NAMES

MMIH Syndrome; Berdon Syndrome; MMIHS; Megacystis Microcolon Intestinal Hypoperistalsis Hydronephrosis Syndrome; Megacystis Microcolon Hypoperistalsis Syndrome

DESCRIPTION

Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (MMIH) is a rare congenital condition characterized by abdominal distension caused by a largely dilated non-obstructed urinary bladder (megacystis); very small colon (microcolon); and decreased or absent intestinal movements (intestinal peristalsis). Usual clinical presentation is similar to other neonatal intestinal obstructions: bile stained vomiting and failure to pass meconium (the first bowel movement the baby has). Other intestinal anomalies may be present like intestinal malrotation. Many problems with the urinary tract result from the bladder dysfunction. It is part of a group of conditions caused by mutations in the ACTG2 gene, and is inherited in an autosomal dominant manner. However, medical scientists believe that many cases of MMIH are caused by spontaneous mutations in the ACTG2 gene.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic t esting: Genetic testing documenting mutation(s) in the ACTG2 gene confirms the diagnosis.

Imaging Studies and Physical Examination Findings for MMIH show various congenital abnormalities of the digestive tract, including:

  • Microcolon (very small colon);

  • Malrotation of the gut;

  • Decreased or absent intestinal movements;

  • Short bowel;

  • Abnormalities of the urinary tract including renal dysplasia;

  • Hydronephrosis;

  • Enlargement of the ureter;

  • Undescended testes or bilateral streak gonads (underdeveloped gonads);

  • Heart anomalies;

  • Umbilical hernia; or

  • Omphalocele.

ICD-9: 751.5

ICD-10: Q43.8

PROGRESSION

Long-term survival usually requires total parenteral nutrition and urinary catheterization or diversion. Most long-term survivors have ileostomies. In families with an inherited MMIH-causing mutation, some family members with a mutation have milder features, living into adolescence and early adulthood. While there are reports of longer survival, the prognosis and life expectancy remains poor, and it is still fatal in many cases. The main causes of death include sepsis, malnutrition, or multiple organ failure.

TREATMENT

There is currently no cure for MMIH. Treatment is supportive. Multi-visceral organ transplantation may be considered.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Clinical history and examination that describes the diagnostic features of the impairment;

  • Imaging study results (X-ray, MRI, CT scan); and

  • Genetic testing confirming diagnosis of the impairment.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

5.08

105.07

105.08

Equals

5.07

* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.234 Megalencephaly-Capillary Malformation Syndrome

COMPASSIONATE ALLOWANCE INFORMATION

MEGALENCEPHALY-CAPILLARY MALFORMATION SYNDROME

ALTERNATE NAMES

M-CM; M-CAP; Macrocephaly Capillary Malformation Syndrome; Megalencephaly Capillary Malformation Polymicrogyria Syndrome; Macrocephaly Cutis Marmorata Telangiectasia Congenital; MCMTC

DESCRIPTION

Megalencephaly-Capillary Malformation Syndrome ( M - CAP or M-CM) is a disorder characterized by overgrowth of several tissues in the body. Its primary features are a large brain (megalencephaly) and abnormalities of small blood vessels in the skin called capillaries (capillary malformations). Additional brain abnormalities can include excess fluid within the brain (hydrocephalus) and abnormalities in the brain's structure, such as Chiari malformation and polymicrogyria. Abnormal brain development can lead to abnormalities of somatic growth with body and brain asymmetry, seizures, low muscle tone, developmental delays, and distinctive facial features. Some affected individuals have fusion of the skin between two or more fingers or toes (cutaneous syndactyly). There is also an increased risk for congenital heart defects such as Tetralogy of Fallot. M-CAP is caused by mutations in the PIK3CA gene.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic t esting: Imaging studies documenting structural brain defects (such as megalencephaly, hemimegalencephaly, or polymicrogyria); and genetic studies documenting abnormal gene sequencing in the PIK3CA gene confirm the diagnosis.

Physical f indings:

  • Macrocephaly;

  • Frontal bossing;

  • Dysmorphic face;

  • Hypotonia;

  • Cutaneous capillary malformations;

  • Focal or generalized somatic overgrowth, limb or digit asymmetry;

  • Digital anomalies (syndactyly, polydactyly);

  • Joint laxity; and

  • Abnormally soft, thick skin and underlying tissue (“doughy”).

ICD-9: 759.89

ICD-10: Q87.89

PROGRESSION

Prognosis depends on the severity of symptoms. Early death due to feeding difficulties, complex cardiac heart disease, or arrhythmia, has been reported in rare occasions. The gene involved in M-CAP is also associated with several types of cancer (in particular, a childhood form of kidney cancer known as Wilms tumor) and noncancerous tumors in the nervous system known as meningiomas.

TREATMENT

Management of M-CAP requires a multidisciplinary approach (involving neurology, ophthalmology, cardiology, orthopedics, audiometry, physiotherapy, psychology and dermatology). Neurosurgery may be necessary for hydrocephalus or posterior fossa decompression.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Clinical history and examination that describes the diagnostic features of the impairment;

  • MRI of brain; and

  • Genetic testing confirming mutations in the PIK3CA gene.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

111.02

Listing level severity must be documented.

111.04

Listing level severity must be documented.

112.05

Listing level severity must be documented.

112.14

Listing level severity must be documented.
Equals

* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.240 Niemann-Pick Disease (NPD) - Type A

COMPASSIONATE ALLOWANCE INFORMATION

NIEMANN-PICK DISEASE (NPD) - Type A

ALTERNATE NAMES

Acute Neuronopathic form-type A-classic infantile form; Niemann Disease; Sphingomyelin Lipidosis; Sphingomyelinase Deficiency

DESCRIPTION

Niemann-Pick Disease (NPD) refers to a group of inherited metabolic disorders known as the leukodystrophies or lipid storage diseases in which harmful quantities of a fatty substance (lipids) accumulate in the spleen, liver, lungs, bone marrow, and the brain. NPD Type A, neurodegenerative form, occurs in infants. It is characterized by jaundice, an enlarged liver; and profound brain damage. In NPD Type A, insufficient activity of an enzyme called sphingomyelinase causes the build up of toxic amounts of sphingomyelin, a fatty substance present in every cell of the body.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing: NPD Type A is diagnosed by measuring the amount of acid sphingomyelinase (ASM) in white blood cells. The test can be done using a blood or bone marrow sample. Sphingomyelinase assays (analysis) can also be used. DNA tests can be done to diagnose carriers. Prenatal testing is available when a mutation is known to exist in the family.

Physical findings: Symptoms may include:

  • Lack of muscle coordination;

  • Brain degeneration;

  • Learning problems;

  • Loss of muscle tone;

  • Increased sensitivity to touch;

  • Spasticity;

  • Feeding and swallowing difficulties;

  • Slurred speech; and

  • An enlarged liver and spleen.

There may be clouding of the cornea and a characteristic cherry-red halo develops around the center of the retina.

ICD-9: 272.7, 330.2

ICD-10: E75.240

PROGRESSION

Infants with NPD - Type A generally die by age 2 or 3.

TREATMENT

There is currently no effective treatment for persons with NPD Type A. Medicines are available to control or relieve many symptoms, such as cataplexy and seizures.

SUGGESTED PROGRAMMATIC ASSESSMENT*
Suggested MER for Evaluation:
  • ASM activity level in blood or bone marrow white blood cells;

  • Physical findings of hepatosplenomegaly (enlarged liver and spleen); and

  • Evidence of neurodevelopmental regression and progressive delay.

Suggested Listings for Evaluation:
DETERMINATION

LISTING

REMARKS
Meets 110.08 B Catastrophic congenital disorder
Equals
* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.245 Non-Small Cell Lung Cancer

COMPASSIONATE ALLOWANCE INFORMATION

NON-SMALL CELL LUNG CANCER

ALTERNATE NAMES

Squamous Cell Lung Carcinoma; Squamous Cell Lung Cancer; Large Cell Lung Carcinoma; Large Cell Lung Cancer; Adenocarcinoma of the Lung; Non-Small Cell Lung Carcinoma; Lung Carcinoma; Bronchioalveolar Carcinoma; Lepidic Adenocarcinoma

DESCRIPTION

Lung Cancer forms in tissues of the lung, usually in the cells lining the air passages. The two main types are Small Cell Lung Cancer and Non-Small Cell Lung Cancer. Diagnosis of the type of cancer is based on microscopic examination. About 87% of lung cancers are Non-Small Cell Lung Cancers. This type spreads more slowly than Small Cell Lung Cancer. The three types of Non-Small Cell Lung Cancer are Squamous Cell Carcinoma, Large Cell Carcinoma, and Adenocarcinoma. Adenocarcinoma has a subdivision of bronchioalveolar carcinoma, which is also known as lepidic adenocarcinoma

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing: The following may be used to diagnose the extent of disease:

  • Physical exam history;

  • Chest x-ray;

  • CT scan;

  • PET scan;

  • Bronchoscopy;

  • Thorascoscopy;

  • Thoracotomy; or

  • Mediastinoscopy.

The diagnosis is made from the pathological evaluation of a tumor biopsy. Tumor can be obtained for pathology by needle biopsy or surgical excision.

Physical findings: Early lung cancer often does not cause symptoms. As the cancer progresses, common symptoms may include:

  • Persistent or worsening cough;

  • Breathing problems;

  • Constant chest pain;

  • Coughing up blood;

  • A hoarse voice;

  • Frequent lung infections;

  • Fatigue; or

  • Unintentional weight loss.

ICD-9: 162.3, 162.9, 231.2, 512.82, 795.81

ICD-10: C34.90

PROGRESSION

Diagnosis in the early stages provides the greatest chance for survival; however, symptoms of Non-Small Cell Lung Cancer usually do not appear until the disease is in an advanced stage. Treatment for Stage IV will not cure the cancer, but can reduce symptoms and extend and improve the quality of life.

The 5-year survival rate for Non-Small Cell Lung Cancer is 15%. Late stage Non-Small Cell Lung Cancer has a 5-year survival rate of less than 5%. Most Non-Small Cell Lung Cancer patients die within a year of diagnosis.

TREATMENT

Treatment of Stage IIIB Non-Small Cell Lung Cancer may include surgery, external radiation therapy, chemotherapy, or a combination of all three. Treatment of Stage IV Non-Small Cell Lung Cancer may include internal radiation therapy, or external radiation as palliative therapy to relieve pain, symptoms, and improve quality of life.

SUGGESTED PROGRAMMATIC ASSESSMENT*
Suggested MER for Evaluation:
  • A pathology report and an operative report are the preferred methods for documentation;

  • Clinical note from a surgeon that the cancer is inoperable; and

  • Surgical pathology report that the cancer was not completely removed and that the surgical margins were positive for malignancy.

“Inoperable” refers to a physician's opinion that surgery would not be beneficial based on a review of imaging studies, laboratory results, and physical examination findings. “Unresectable” cancer is established when the operative report indicates that the cancer is not completely removed or the pathology report notes that the surgical specimen has positive margins.
Suggested Listings for Evaluation:
DETERMINATION

LISTING

REMARKS
Meets 13.14 A Non-Small Cell Lung Cancer that is inoperable, unresectable, recurrent, or with metastases to or beyond the hilar nodes meets the criteria in 13.14 A.
Equals
* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.246 Oligodendroglioma Brain Cancer - Grade III

COMPASSIONATE ALLOWANCE INFORMATION

OLIGODENDROGLIOMA BRAIN CANCER - GRADE III

ALTERNATE NAMES

Anaplastic Oligodendroglioma

DESCRIPTION

Oliogodendroglioma (OD) Brain Cancer is a rare, slow growing cancer that initially consists of oligodendrocytes, which are, cells that cover and protect nerve cells in the brain and spinal cord. Cancers that are located in the frontal lobe may cause weakness on one side of the body, personality or behavior changes, and difficulty with short- term memory. Cancers occurring in the temporal lobe of the brain may cause seizures or language problems. These cancers rarely metastasize outside of the nervous system. The exact cause of OD brain cancer is unknown.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing: Oligodendrogliomas are diagnosed using CT or MRI scans. A brain biopsy is definitive when determined to be a diffuse infiltrating glioma with isocitrate dehydrogenase (IDH) mutation and chromosomal 1p19q codeletion..

Physical findings: People with these cancers may present with complaints of:

  • Headaches;

  • Seizures;

  • Increased intracranial pressure; and

  • Neurological deficits such as, visual loss, motor weakness, and cognitive decline.

ICD-9: 191.X Depends on the location of the tumor.

ICD-10: C71.9

PROGRESSION

Oligodendrogliomas can occur at any age, but are commonly diagnosed in young and middle age adults with a median age between 40-50 years of age. This cancer may occasionally be found in children. Because low-grade cancers are slow growing, they are often present for years before they are diagnosed; however, higher grade cancers are likely to grow more quickly.

TREATMENT

The treatment of OD cancers depends on the size, location, and grade of cancer. Biopsy is generally performed to confirm the diagnosis and to grade the cancer. Recurrent low grade oliogodendrogliomas may be treated with a combination of surgical resection, chemotherapy and radiation.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Clinical history and examination that describes the diagnostic features of the impairment;

  • Biopsy report; and

  • Imaging study results.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

13.13 A 1

Meets the criteria in listings 13.13 A 1 upon confirmed diagnosis, regardless of effectiveness of treatment.

113.13

Meets the criteria in listing 113.13 upon confirmed diagnosis, regardless of effectiveness of treatment.

Equals

* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.255 Osteogenesis Imperfecta (OI) - Type II

COMPASSIONATE ALLOWANCE INFORMATION

OSTEOGENESIS IMPERFECTA (OI) - Type II

ALTERNATE NAMES

Osteogenesis Imperfecta Congenita (OIC); Vrolik Disease (OI Type 2A)

DESCRIPTION

Osteogenesis Imperfecta (OI) is a group of genetic disorders that mainly affect the bones. The term “osteogenesis imperfecta” means imperfect bone formation. People with this condition have bones that break easily, often from mild trauma or with no apparent cause. Multiple fractures are common, and in severe cases, can occur even before birth. Milder cases may involve only a few fractures over a person's lifetime.

There are at least eight recognized forms of OI, designated type I through type VIII. The types can be distinguished by their signs and symptoms, although their characteristic features overlap. Type I is the mildest form of OI and type II is the most severe; other types of this condition have signs and symptoms that fall somewhere between these two extremes. Increasingly, genetic factors are used to define the different forms of OI.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing: Ultrasound can often detect severe cases of OI during pregnancy. The severe form of OI Type II can be seen on ultrasound when the fetus is as young as 16 weeks. Genetic testing may be able to identify the mutation.

Physical findings: More severe forms of OI cause frequent bone fractures that may begin before birth and result from little or no trauma. Additional features of these conditions can include:

  • Blue sclerae;

  • Short stature;

  • Hearing loss;

  • Respiratory problems; and

  • A disorder of tooth development called dentinogenesis imperfecta.

The most severe forms of OI, particularly type II, can include an abnormally small, fragile rib cage and underdeveloped lungs. Infants with these abnormalities have life-threatening problems with breathing and often die shortly after birth.

ICD-9: 756.51

ICD-10: Q78.0

PROGRESSION

OI Type II infants have life-threatening problems with breathing and often die shortly after birth.

TREATMENT

There is no cure for this disease.
SUGGESTED PROGRAMMATIC ASSESSMENT*
Suggested MER for Evaluation:
  • Genetic testing for mutations in the COL1A1 and COL1A2 genes responsible for collagen formation, or skin biopsy analysis; and

  • Physical and imaging findings consistent with OI Type II diagnosis.

Suggested Listings for Evaluation:
DETERMINATION

LISTING

REMARKS
Meets 110.08 A Catastrophic congenital disorder
Equals
* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.410 MPS II - Hunter Syndrome

COMPASSIONATE ALLOWANCE INFORMATION

MPS II - HUNTER SYNDROME

ALTERNATE NAMES

Mucopolysaccharidosis type II; Iduronate sulfatase deficiency; MPS Disorder; MPS II; I2S Deficiency; Lysosomal Storage Disease – Mucopolysaccharidosis Type II

DESCRIPTION

MPS II – Hunter syndrome is a rare, inherited disease in which the sugar molecules (mucopolysaccharides) are not broken down correctly and build up in the body. The condition is caused by a lack of enzyme iduronate sulfatase. The early-onset (severe) form of Hunter syndrome begins shortly after age 2. The symptoms include aggressive behavior, hyperactivity, mental function decline, severe intellectual disability and spasticity. Other symptoms may include carpal tunnel syndrome, coarse facial features, deafness, hairy body (hypertrichosis), joint stiffness, and a large head (macrocephaly). Individuals with this disorder may experience the following signs: abnormal retina, heart murmur and leaky heart valves, enlarged liver (hepatomegaly) enlarged spleen (splenomegaly), inguinal hernia, and joint contractures.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing:

  • Enzyme studies documenting absent or deficient levels of iduronate-2-sulfatase (I2S);

  • Genetic testing for change (mutation) in the iduronate sulfatase gene, and urine testing for heparan sulfate and dermatan sulfate;

  • Pulmonary function testing, echocardiogram, EMG/NCS (nerve conduction studies), CT scan/ MRI may be supportive;

  • Slit lamp examination.

Physical findings:

  • Coarse facial features;

  • Thickened skin;

  • Narrowing of the cervical spinal canal (spinal stenosis);

  • Short stature;

  • Enlarged tongue (macroglossia) and vocal cords;

  • Enlarged liver and spleen (hepatosplenomegaly);

  • Retinal degeneration;

  • Contractures of the joints;

  • Leaky heart valves, umbilical or inguinal hernia;

  • Carpal tunnel syndrome;

  • Buildup of cerebrospinal fluid in the brain (hydrocephalus); and

  • Enlarged head (macrocephaly).

ICD-9: 277.5

ICD-10: E76.1

PROGRESSION

The more severe form of Hunter syndrome usually has a disease onset between ages 2 and 4 years. Mental impairment and developmental decline is usually noticed at 18-24 months with progressive loss of motor skills. Death from upper airway obstruction or heart failure occurs by age 15.

TREATMENT

There is no curative treatment for Hunter syndrome. Treatment with idursulfase (Elaprase) has been shown to improve walking when given early. Medical therapy is directed at treating the systemic complications of the disorder.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Clinical history and examination that describes the diagnostic features of the impairment;

  • Enzyme assay for iduronate sulfatase;

  • Pulmonary function testing;

  • Echocardiogram;

  • EMG/NCS (nerve conduction studies);

  • CT scan/MRI scan; and

  • Slit lamp examination.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

110.08 B

This congenital disorder interferes with mental development and has progressive loss of motor function. Early-onset form is most severe, and is appropriately evaluated under 110.08 B.

Equals

*Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.415 MPS I - Hurler Syndrome

COMPASSIONATE ALLOWANCE INFORMATION

MPS I - HURLER SYNDROME

ALTERNATE NAMES

Hurler Syndrome type IH; Alpha-L-iduronate deficiency; Mucopolysaccharidosis type I; MPS I H; Lipochondrodystrophy; Pfaundler-Hurler syndrome; Hurler-Pfaundler syndrome; Attenuated MPS I; MPS I S; Hurler-Scheie Syndrome; MPS 1 H/S; Lysosomal Storage Disease – Mucopolysaccharidosis Type I

DESCRIPTION

MPS I - Hurler syndrome is one of a rare group of inherited diseases known as mucopolysaccharidoses. In this syndrome, the body is unable to break down long chains of sugar molecules called glycosaminoglycans, or mucopolysaccharides. The molecules are found throughout the body, often in mucus and in fluid around the joints. Because the body is unable to make an enzyme called lysosomal alpha-L-iduronidase, the sugar molecules build up and accumulate in blood cells, cartilage, bone and connective tissues leading to permanent damage in multiple body organs. Hurler syndrome is the most severe type of mucopolysaccharidosis. Symptoms can range from mild to severe. Symptoms of Hurler syndrome most often appear between ages 3 and 8. Some individuals have skeletal and joint deformities that affect mobility.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing:

  • Genetic testing for mutations in the alpha-L-iduronidase (IDUA) gene;

  • X-rays of the spine showing dysostosis multiplex;

  • Urine testing may reveal excess glycosaminoglycans (heparin sulfate/ dermatan sulfate);

  • Echocardiogram; pulmonary function testing;

  • EMG/ NCS nerve conduction studies;

  • CT scan/ MRI may be supportive; and

  • Slit lamp examination.

Physical findings : Individuals with this condition have:

  • Distinct facial features (flat face, depressed nasal bridge, bulging forehead);

  • Short stature;

  • Enlarged tongue (macroglossia) and vocal cords;

  • Clouding of corneas;

  • Joint stiffness;

  • Claw hand;

  • Enlarged liver and spleen;

  • Leaky heart valves/ enlarged heart;

  • Umbilical and inguinal hernia;

  • Carpal tunnel syndrome;

  • Hydrocephalus (buildup of fluid around brain);

  • Macrocephaly (large head), and

  • Cervical spinal stenosis (narrowing of spinal cord).

ICD-9: 277.5

ICD-10: E76.0

PROGRESSION

Infants may appear normal at birth. Signs most often appear between the ages of 6 and 24 months. The severe form is associated with rapid progression and decreases in intellectual functioning, developmental delay and/ or regression, and death occurs by age 10. Heart disease and pulmonary complications are the major causes of death.

TREATMENT

There is no cure for this disorder. Enzyme replacement therapy has been tried with limited success. Bone marrow transplantation has also been attempted with mixed results. Other treatment depends on the organs that are affected and are focused on improving the individual’s quality of life.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Clinical history and examination that describes the diagnostic features of the impairment;

  • Laboratory tests showing results of genetic testing for mutations in the IDUA gene;

  • Imaging studies e.g. X-rays, CT scan/MRI scan;

  • Urine testing;

  • Echocardiogram;

  • Pulmonary function testing;

  • EMG/ NCS nerve conduction studies; and

  • Slit lamp examination.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

110.08 B

Equals

* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.420 Idiopathic Pulmonary Fibrosis

COMPASSIONATE ALLOWANCE INFORMATION

IDIOPATHIC PULMONARY FIBROSIS

ALTERNATE NAMES

Idiopathic Diffuse Interstitial Pulmonary Fibrosis; IPF; Pulmonary Fibrosis; Cryptogenic Fibrosing Alveolitis; CFA; Fibrosing Alveolitis; Usual Interstitial Pneumonitis; UIP; Diffuse Fibrosing Alveolitis; Familial Idiopathic Pulmonary Fibrosis (FIPF)

DESCRIPTION

Idiopathic Pulmonary Fibrosis (IPF) is a condition in which tissue deep in the lungs becomes thick and stiff, or scarred, over time. The development of the scarred tissue is called fibrosis. As the lung tissue becomes thickened the lungs lose their ability to transfer oxygen into the bloodstream. As a result, the brain and other organs do not get the oxygen they need to function properly. The condition is ‘idiopathic’ because there is no known cause for the disease but exposure to irritants, such as cigarette smoking, viral infections, exposure to environmental pollutants, certain side affects from antibiotics, heart and cancer medicines are suspected causes. Some people may be more likely to develop IPF because of their genes. This condition is called Familial Idiopathic Pulmonary Fibrosis (FIPF). The most common signs and symptoms are shortness of breath, a dry, hacking cough that does not get better, weight loss, fatigue or malaise, aching muscles and joints and clubbing of fingers or toes. IPF may lead to other medical conditions including collapsed lung, lung infections, blood clots in the lungs and lung cancer. The disease occurs most often in people over 50 years old. The prevalence is estimated to be in the order of 20 per 100,000 but is thought to be significantly higher in those aged 75 and older.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing: The diagnosis of IPF is made and supported by:

  • Chest x-ray and HRCT scan;

  • Spirometry or bronchoscopy to determine the extent of lung damage and scarring;

  • Pulse oximetry;

  • Arterial blood gas tests to measure the oxygen and carbon dioxide levels in the bloodstream;

  • EKG;

  • TB test to rule out tuberculosis; and

  • Surgical lung biopsy to confirm the diagnosis, determine the progression of the disease, and rule out other causes of the condition, such as sarcoidosis, cancer or infection.

Physical findings: Symptoms of IPF include abnormal breath sounds (cackles) and, in advanced disease: blue-colored skin (cyanosis) around the mouth or in the fingernails (due to low oxygen) and clubbing of the fingers and toes.

ICD-9: 516.3

ICD-10: J84.112
PROGRESSION As IPF progresses it worsens and potentially life-threatening conditions develop such as respiratory failure, pulmonary hypertension and heart failure. Individuals with this disease usually die within 3 to 5 years of diagnosis.

TREATMENT

IPF is treated with anti-inflammatory medicines such as: Prednisone and immune system suppressants. Flu and pneumonia vaccines, cough medicines or oral codeine, Vitamin D, calcium and anti-reflux therapy to control gastroesophageal reflux disease (GERD) which is sometimes present, are also prescribed. Oxygen therapy, pulmonary rehabilitation and lung transplant are also used to manage the disease. The lung damage cannot be reversed, but with treatment, more damage and scarring may be prevented and may improve the quality of life for these individuals.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Clinical history and examination that describes the diagnostic features of the impairment;

  • Biopsy reports;

  • Pulmonary Function Tests (PFTs) including diffusing capacity (DLCO), Spirometry, and ABGs (Arterial Blood Gas Studies); and

  • Echocardiography.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

3.02

A description of findings establishing the diagnosis and response to treatment is needed when evaluating this condition. A DLCO test is particularly important as gas exchange is commonly impaired to a greater degree than ventilatory function.

3.09

3.11

3.14

Equals

3.02

Review of the claim by a physician experienced in the management of patients with IPF would generally be required to determine if there was sufficient evidence to establish severity equal to the intent of the listing.

3.09

* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.430 Junctional Epidermolysis Bullosa Lethal Type

COMPASSIONATE ALLOWANCE INFORMATION

JUNCTIONAL EPIDERMOLYSIS BULLOSA LETHAL TYPE

ALTERNATE NAMES

JEB; JEB-Herlitz; Lethal Junctional Epidermolysis Bullosa; Junctional Epidermolysis Bullosa Gravis; Dystrophic Epidermolysis Bullosa; Hemidesmosomal Epidermolysis Bullosa; Herlitz disease; Epidermolysis Bullosa, Junctional; Epidermolysis Bullosa Atrophicans; Herlitz Junctional Epidermyolysis Bullosa

DESCRIPTION

Junctional Epidermolysis Bullosa (JEB) Lethal type, or Herlitz form, occurs at birth and is a rare, genetic condition that is characterized by generalized skin blistering resulting from minor friction, scratches, or trauma. JEB is caused by a severe mutation in the keratin gene: laminin-5. Infants with this condition show characteristic skin blisters around the mouth, eyes, nostrils, fingers, hands, elbows, feet, legs, and diaper area. The skin blisters are often accompanied by significant enlargement and bumpy tissue. Multisystemic involvement of the corneal, conjunctival, tracheobronchial, oral, pharyngeal, esophageal, rectal and genitourinary systems is present. When the lungs are involved, children exhibit symptoms of a hoarse cry, cough and other respiratory difficulties.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing: Individuals with this condition are diagnosed by:
  • Genetic testing;

  • Skin biopsy;

  • Blood testing for anemia;

  • Cultures to check for bacterial infection; and

  • Upper endoscopy or upper GI series.

Physical findings : Individuals with the severe form of JEB may have:

  • Skin blistering;

  • Contracture deformities at the fingers, elbows or knees;

  • Swallowing problems if the mouth and esophagus are affected;

  • Fused fingers and toes; and

  • Limited mobility from scarring.

Other findings may include:

  • Anemia;

  • Esophageal narrowing eye problems;

  • Infection in the Blood or tissues muscular dystrophy;

  • Periodontal disease;

  • Failure to thrive; and

  • Squamous cell skin cancer.

ICD-9 : 757.39

ICD-10: Q81

TREATMENT

There is no cure for this condition. Treatment is supportive which includes daily wound care, bandaging and pain management as needed. Tissue engineered skin grafts (artificial skin) may be beneficial.

PROGRESSION

Infants with this condition are at increased risk for death from sepsis or other complications secondary to the skin damage, and usually, they do not survive past infancy. Other complications of JEB can include fusion of the fingers and toes, abnormalities of the fingernails and toenails, joint deformities (contractures) that restrict movement, and hair loss. The death rate is as high as 87% in the first year of life.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Clinical history and examination that describes the diagnostic features of the impairment; and

  • Biopsy reports.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

108.03

Equals

 

* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.440 Leigh's Disease

COMPASSIONATE ALLOWANCES INFORMATION

LEIGH’S DISEASE

ALTERNATE NAMES

Leigh Necrotizing Encephalopathy; Leigh's Syndrome; Necrotizing Encephalomyelopathy of Leigh's; SNE; Subacute Necrotizing Encephalopathy; Infantile Subacute Necrotizing Encephalopathy; Juvenile Subacute Necrotizing Encephalopathy; Leigh Syndrome; Leigh Disease; Subacute Necrotizing Encephalomyelopathy

DESCRIPTION

Leigh's disease is a rare inherited neurometabolic disorder that affects the central nervous system. This progressive disorder begins in infants between the ages of three months and two years. Leigh's disease can be caused by mutations in mitochondrial DNA or by deficiencies of an enzyme called pyruvate dehydrogenase. Genetic mutations in mitochondrial DNA interfere with the energy sources that run cells in an area of the brain that plays a role in motor movements. There is also a form of Leigh’s disease called X-linked Leigh’s disease, which is the result of mutations in a gene that produces another group of substances that are important for cell metabolism. This gene is only found on the X chromosome. Symptoms of Leigh's disease usually progress rapidly. The earliest signs may be poor sucking ability, and the loss of head control and motor skills. These symptoms may be accompanied by loss of appetite, vomiting, irritability, continuous crying, and seizures.

DIAGNOSTICTESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

 

Diagnostic testing : Molecular genetic testing can differentiate between mtDNA-associated Leigh syndrome (caused by mutations in mtDNA) and nuclear gene-encoded Leigh syndrome (caused by mutation in nuclear DNA). Leigh syndrome vary greatly and may be diagnosed by:

  • Progressive neurologic disease with motor and intellectual developmental delay;

  • Signs and symptoms of brainstem and/or basal ganglia disease;

  • Raised lactate concentration in blood and/or cerebrospinal fluid (CSF); and

  • The presence of one or more of the following:

    • Characteristic features on brain imaging (CT scan or MRI);

    • Typical nervous system tissue changes; or

    • Typical nervous system tissue changes in a similarly affected sibling.

Physical findings: Most individuals with Leigh syndrome have central nervous system and peripheral nervous system abnormalities, without involvement of other body systems.

Central nervous system abnormalities may include:

  • Developmental delay or regression;

  • Nystagmus;

  • Ophthalmoparesis (weakness in the muscles that control eye movement);

  • Optic atrophy;

  • Ataxia;

  • Dysphagia;

  • Retinitis pigmentosa; and

  • Deafness.

Peripheral nervous system abnormalities may include polyneuropathy and myopathy.

Although most people with Leigh syndrome only have neurological abnormalities, some people also have non-neurologic abnormalities. These may include:

  • Distinct physical features;

  • Hormone abnormalities resulting in short stature or hypertrichosis;

  • Heart abnormalities (hypertrophic or dilated cardiomyopathy); and

  • Gastrointestinal symptoms, such as diarrhea.

As the disorder progresses, symptoms may also include:

  • Generalized weakness;

  • Lack of muscle tone; and

  • Episodes of lactic acidosis, which can lead to impairment of respiratory and kidney function.

ICD-9: 330.8

ICD-10: G31.82

TREATMENT

The most common treatment for Leigh's disease is thiamine or Vitamin B1. Oral sodium bicarbonate or sodium citrate may also be prescribed to manage lactic acidosis. Researchers are currently testing dichloroacetate to establish its effectiveness in treating lactic acidosis. In children who have the X-linked form of Leigh’s disease, a high fat, low-carbohydrate diet may be recommended.

PROGRESSION

The prognosis for children with Leigh's disease is poor. Children who lack mitochrondrial complex IV activity and those with pyruvate dehydrogenase deficiency tend to have the worst prognosis and die within a few years. Those with partial deficiencies have a better prognosis, and may live to be 6 or 7 years of age. Some have survived to their mid-teenage years.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Clinical history and examination describing the diagnostic features of the impairment physical findings;

  • Family history;

  • Muscle biopsy;

  • Genetic testing;

  • Electromyography or nerve conduction tests; and

  • Blood enzyme tests.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

110.08

Leigh’s disease produces long-term interference with age appropriate activities resulting in extreme limitations in functioning.

Equals

 

* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

 

DI 23022.495 MPS III - Sanfilippo Syndrome

COMPASSIONATE ALLOWANCE INFORMATION

MPS III - SANFILIPPO SYNDROME

ALTERNATE NAMES

Mucopolysaccaridoses III; MPS III; Sanfilippo Type III; Oligophrenic Polydystrophy; Polydystrophic Oligophrenia

DESCRIPTION

Sanfilippo syndrome is a type of Mucopolysaccaridoses III (MPS III), a lysomal storage disease, which is caused by the absence or malfunctioning of certain enzymes needed to break down molecules called glycosaminoglycans (mucopolysaccharidoes) – long chains of sugar carbohydrates in each of our cells that help build bone, cartilage, tendons, corneas, skin, connective tissue and joints. Individuals with MPS III either do not produce enough of one of the enzymes or they produce enzymes that do not work properly. Over time, these sugar chains collect in the cells, blood and connective tissues resulting in permanent, progressive cellular damage that affects the individual’s appearance, physical abilities, organ and system functioning, and, in most cases mental development. There are four main types of Sanfilippo syndrome:

  • Sanfilippo A, the most severe of the MPS III disorders, is caused by the missing or altered enzyme heparan N-sulfatase. Children with this disease have the shortest survival rate among those with the MPS III disorders.

  • Sanfilippo B is caused by the missing or deficient enzyme alpha-N-acetylglucosaminidase.

  • Sanfilippo C results from the missing or altered enzyme acetyl-CoAlpha-glucosaminide acetyltransferase.

  • Sanfilippo D is caused by the missing or deficient enzyme N-acetylglucosamine 6-sulfatase.

The symptoms of Sanfilippo syndrome include: neurological damage, intellectual disability or developmental delay, behavioral problems, hearing loss, corneal degeneration, coarse or rough facial features, short stature, dysplasia, thickened skin, enlarged liver or spleen, hernias, excessive body hair growth, claw-like hands, joint stiffness, carpal tunnel syndrome, respiratory infections, sleep apnea and heart disease. The disorder is seen in about 1 in 70,000 births. Unlike other forms of MPS III, symptoms appear after the first year of life.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing:

  • Clinical examination;

  • Urine tests;

  • Enzyme assays

  • Blood culture;

  • Echocardiogram;

  • Slit lamp eye exam;

  • Skin fibroblast culture; and

  • X-rays of the bones.

Prenatal diagnosis using amniocentesis and chorionic villus sampling can verify if a fetus either carries a copy of the defective gene or is affected with the disorder.

Physical findings : A decline in learning ability typically occurs between ages 2 and 6. The child may have normal growth during the first few years, but final height is below average. Delayed development is followed by deteriorating mental status.

ICD-9 : 277.5

ICD-10: C76.22

PROGRESSION

The syndrome causes significant neurological symptoms, including severe intellectual disability. IQs may be below 50. Most persons with Sanfilippo syndrome live into their teenage years. Some individuals live longer, while others with severe forms die at an earlier age. Symptoms appear most severe in persons with Sanfilippo A.

TREATMENT

Currently there is no known treatment. Medical care is directed at treating systemic conditions and improving the person's quality of life. Physical therapy and daily exercise may delay joint problems and improve the ability to move.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Clinical examination that describes diagnostic features of the impairment;

  • Laboratory tests showing results of genetic testing;

  • Enzyme study tests;

  • Urine tests; and

  • MRI or CT scan.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

Equals

110.08 B

Evaluate most severe forms with early childhood onset under 110.08 B; for less severe, late onset forms, evaluate under the affected body systems.
* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.615 Lowe Syndrome

COMPASSIONATE ALLOWANCE INFORMATION

LOWE SYNDROME

ALTERNATE NAMES

LS; Cerebro-oculo-renal Syndrome; Cerebro-oculo-renal Dystrophy; Lowe Oculocerebrorenal Syndrome; Lowe’s Disease; Oculocerebrorenal Dystrophy; OCRL; Oculocerebrorenal Syndrome; OCR; Oculo-cerebrorenal Syndrome of Lowe; Phosphatidylinositol-4,5 Bisphospate-5-Phosphatase Deficiency; Cerebrooculorenal syndrome; Oculocerebrorenal Syndrome; Lowe’s oculocerebrorenal disease/syndrome

DESCRIPTION

Lowe Syndrome (LS) is a rare genetic condition caused by a mutation in the OCRL 1 gene resulting in physical and mental impairments beginning at birth. Because of this defective gene, an essential enzyme called PIP2-5 phosphatase is not produced. This enzyme is essential to normal metabolic processes that take place in a small part of the cell called the Golgi apparatus. Because of the enzyme deficiency, cell functions that are regulated by the Golgi are abnormal, leading to various developmental defects including bilateral cataracts and impairments of the nervous system and kidneys.

This disorder occurs most often in males, but can also occur in females.   

The kidneys play an important role in maintaining chemical balance in the body. In people with renal Fanconi syndrome, the kidneys are unable to reabsorb important nutrients into the bloodstream. When there is an imbalance of salts, minerals, water and other substances in the body, this imbalance can lead to impaired growth, bowed leg bones (hypophosphatemic rickets), and progressively worsening and life-threatening renal failure (end-stage renal disease).     

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing:

  • Molecular genetic testing;

  • Fibroblast; and

  • Blood testing.

Physical findings: There are three main findings, which are present in all people with LS:

  • Cataracts in one eye or both eyes at birth (glaucoma is present in about 50% of cases, though usually not at birth);

  • Low muscle tone and weakness (hypotonia) at birth; and

  • Fanconi syndrome, which is a type of kidney dysfunction.

People with Fanconi syndrome generally have normal kidney function shortly after birth, but abnormal function occurs by 1 year of age.

In addition to kidney dysfunction, children with LS have other impairments such as:

  • Intellectual disability;

  • Seizures;

  • Behavior problems;

  • Glaucoma;

  • Bone weakness (neonatal hypotonia); and

  • In male children, undescended testicles.

Neonatal hypotonia can contribute to feeding difficulties, problems with breathing, and delayed development of motor skills (i.e. sitting, standing, and walking). Motor and mental developmental delays are generally present in infancy. Temper tantrums and aggressiveness are frequent during adolescence.

ICD-9: 270.8

ICD-10: E72.03

PROGRESSION

People with LS have delayed development and intellectual ability ranges from normal to severely impaired. Renal dysfunction, hypotonia, increased susceptibility to infectious disease; respiratory illness, seizures, and sudden death (usually while sleeping) are the most frequent causes of death during the first years of life in children with LS.

TREATMENT

Currently there is no cure for LS. Treatment includes cataract extraction, glaucoma control, and correction of renal disease. Physical, occupational, and vision therapies, and orientation and mobility services to improve adaptive functioning. School age children require individualized and flexible instructional curricula.
SUGGESTED PROGRAMMATIC ASSESSMENT*
Suggested MER for Evaluation:
  • Clinical examination that describes diagnostic features of the impairment and laboratory studies are needed to confirm the diagnosis; and

  • Developmental assessment or psychological testing to address allegations of mental impairment may be warranted.

Suggested Listings for Evaluation:
DETERMINATION

LISTING

REMARKS
Meets 110.08 B LS involves multiple body systems. A description of clinical and laboratory findings will be needed to adjudicate these cases.
Equals
* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.660 The ALS Parkinsonism Dementia Complex

COMPASSIONATE ALLOWANCE INFORMATION

THE ALS/PARKINSONISM DEMENTIA COMPLEX

ALTERNATE NAMES

The Amyotrophic Lateral Sclerosis/Parkinsonism Dementia Complex; ALS/PDC; ALS/PDC syndrome of Guam; Kii ALS-PDC; Lytico-Bodig Motor Neuron Disease; Guam Disease; PDALS; Parkinsonism Dementia-ALS complex

DESCRIPTION

The Amyotrophic Lateral Sclerosis/Parkinsonisim Dementia Complex (ALS/PDC) is a rare malignant form of amyotrophic lateral sclerosis (ALS). ALS/PDC is an endemic neurodegenerative disorder, known to occur primarily on the island of Guam and the Kii peninsula of Japan. It is characteristic of classical ALS, parkinsonism, and dementia. The cause of this disorder is widespread neurofibrillary degeneration in the brain and spinal cord. This type of damage results in bradykinesia (abnormal slowness of physical movement), rigidity, tremor, forgetfulness, and dementia.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing: There is no specific test or procedure to establish the diagnosis of ALS/PDC. ALS/PDC diagnosis is based on history, neurological findings consistent with the diagnosis of ALS/PDC. Electrophysiological and neuroimaging testing is used to rule out other impairments that may cause similar signs and symptoms. There are no definitive biomarkers that clearly distinguish ALS/PDC from other degenerative neurological disorders.

Physical findings:

  • Bradykinesia (abnormal slowness of physical movement);

  • Rigidity;

  • Tremor;

  • Forgetfulness; and d

  • Dementia.

ICD-9: 331.0

ICD-10: F02

PROGRESSION

The average onset of the disease is in the 40s. As the disease progresses, people experience increasing cognitive deficits, spasticity, muscle atrophy, and weakness. These symptoms progressively worsen to a vegetative state with death occurring within 4 -6 years after diagnosis.

TREATMENT

There is currently no cure for ALS/PDC. Treatment involves the management of symptoms.

Management of symptoms may include:

  • Cholinesterase inhibitors for the treatment of neuropsychiatric symptoms;

  • Levodopa-carbidopa combinations to treat movement disorders;

  • Physical therapy for cardiovascular and skeletal muscle strengthening; flexibility, as well as for gait training;

  • Occupational therapy helps to maintain skills and promote function and independence; and,

  • The primary bulbar muscles affected by this disorder include the pharynx, tongue, and part of the larynx. Issues such as low voice volume, poor enunciation, poor bulbar muscular strength, and swallowing difficulties are treated with speech therapy.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Clinical information from the claimant’s medical source(s) documenting a progressive physical, neurological finding of PD and ALS. Dementia is also critical and required for disability evaluation of ALS/PDC; and

  • Activities of daily living report or a similar report completed by relative or caregiver.

Suggested Listings for Evaluation:
DETERMINATION

LISTING

REMARKS
Meets

11.06

11.10

11.22

12.02

Equals
* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

 

DI 23022.670 Alobar Holoprosencephaly

COMPASSIONATE ALLOWANCE INFORMATION

ALOBAR HOLOPROSENCEPHALY

ALTERNATE NAMES

Alobar HPE; Holoprosencephaly; HPE; Holoprosencephaly 1 Alobar; Familial Alobar Holoprosencephaly; Holoprosencephaly Sequence

DESCRIPTION

Alobar Holoprosencephaly (HPE) is the most severe type of holoprosencephaly, a structural anomaly of the brain that occurs early in gestational development. Inalobar HPE, there is a complete failure of the brain to divide into right and left hemispheres, resulting in the loss of midline structures of the brain and face, as well as fusion of the cavities (ventricles) of the brain.

The affected fetus is usually stillborn or dies soon after birth, or during the first 6 months of life. HPE may be associated with trisomy syndromes or other genetic mutations found in at least 14 different genes.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing: MRI or CT of the brain

Physical findings : Most infants with alobar HPE have severe facial anomalies, including:

  • A single eye (cyclopia);

  • Very closely spaced eyes (ethmocephaly);

  • Absent eyes (anophthalmia);

  • Very small eye (microphthalmia) with a tubular-shaped nose (proboscis);

  • Closely spaced eyes (hypotelorism) and a flattened nose or cleft lip that occurs in the middle of the lip (median cleft lip) or on both sides (bilateral cleft lip).

Other findings may include:

  • Developmental delay;

  • Seizures;

  • Hydrocephalus (buildup of brain fluid);

  • Hypothalamic/pituitary and brain stem dysfunction;

  • Abnormal swallow or feeding difficulties; and

  • Failure to thrive/abnormal growth.

ICD-9: 742.2

ICD-10: Q04.2

PROGRESSION

Outcomes for HPE vary based upon the severity of the malformation. Most infants Approximately 50% of children with alobar HPE die in first six months life.before age 4 to 5 months.

TREATMENT

There is no cure for HPE. Treatment is symptomatic and supportive and may include antiepileptic drugs for seizures and hormone replacement therapy for pituitary dysfunction.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Clinical history and physical examination that describes the diagnostic features of the impairment; and

  • Cranial MRI or CT.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

110.08 A

Only alobar HPE is considered to meet the criteria in listing 110.08 A. For lobar and semilobar HPE, as the clinical course is more variable, evaluate on a case-by-case basis under affected body systems; growth and development, and functional limitation.

Equals

* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.685 Carcinoma of Unknown Primary Site

COMPASSIONATE ALLOWANCE INFORMATION

CARCINOMA OF UNKNOWN PRIMARY SITE

ALTERNATE NAMES

Cancer of Unknown Primary Origin; CUP; Origin of Unknown Primary Site; Occult Primary Malignancy; Occult Primary Cancer; Malignant Neoplasms of Unknown site; Malignant Neoplasms of Unknown Origin

DESCRIPTION

Carcinoma of Unknown Primary Site (CUP) is a condition where cancer cells are found in the body, but the place where the cells first started growing (the origin or primary site) cannot be determined. The clinical presentation of cancer of unknown primary origin is extremely variable, and depends on the extent and type of organ involvement.

Most people with CUP present with multiple areas of involvement in multiple visceral sites (organs in the cavities of the body), the most common sites of involvement being lung, bone, lymph nodes, and liver. Individuals with CUP are presumed to all have stage IV disease at the time of initial presentation.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing: Diagnostic testing for CUP includes biopsy, imaging studies, and laboratory analysis.

Physical findings: Individuals with CUP may have:

  • Long-lasting pain in a specific area of the body;

  • Loss of appetite;

  • Unexplained weight loss;

  • A cough or hoarseness that doesn’t go away;

  • Thickening or lump in any part of the body;

  • Changes in bowel or bladder habits;

  • Unusual bleeding or discharge; and

  • Recurring fever or night sweats.

ICD-9: 199.1

ICD-10: C80.1

PROGRESSION

The incidence of CUP increases with age, with the median age on presentation for both men and women ranging from 59-66 years. The overall prognosis of patients with cancer of unknown primary origin with multiple organ involvement and poor response to treatment is grave.

TREATMENT

The treatment for CUP is dependent on organ involvement.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Clinical history and examination that describes the diagnostic features of the impairment;

  • Imaging tests;

  • Pathology/biopsy report of the cancer; and

  • Treatment records including surgical procedures, and up-to-date progress notes.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

13.27

CUP meets the criteria in listing 13.27 upon confirmed diagnosis, regardless of effectiveness of treatment, except squamous cell carcinoma of unknown primary site confined to the neck nodes, which we evaluate under listing 13.02.

Equals

 

 

* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

 

DI 23022.695 Child Neuroblastoma—with distant metastases or recurrent

COMPASSIONATE ALLOWANCE INFORMATION

CHILD NEUROBLASTOMA

ALTERNATE NAMES

Congenital Neuroblastoma; Sympathicoblastoma; Stage IVS Neuroblastoma; Pepper’s syndrome; Schwannian Stroma-Poor Neuroblastoma

DESCRIPTION

Neuroblastoma is a malignant solid tumor that develops from the nerve tissues that form the sympathetic nervous system (the part of the nervous system that controls body functions, such as heart rate, blood pressure, digestion, and levels of certain hormones). The cause of neuroblastoma is unknown. Most neuroblastomas begin in the abdomen near the adrenal glands, or next to the spinal cord, or in the chest. Child Neuroblastoma with distant metastases or recurrent is considered an aggressive tumor because it often quickly spreads to other parts of the body.

The first symptoms are usually fever, a general sick feeling (malaise), and pain. There may also be loss of appetite, weight loss, and diarrhea. More specific signs and symptoms depend on the type of neuroblastoma.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing: Diagnostic tests include:

  • Urine catecholamine levels (vanillylmandellic acid and homovanillic acid levels);

  • Imaging tests (x-ray, ultrasound, CT scan, MRI, radionuclide bone scan);

  • Tumor biopsy;

  • Bone marrow biopsy; and

  • Bone marrow aspiration.

Physical findings : Presentation signs vary depending on the site of the tumor, such as:

  • Abdominal or liver mass;

  • High blood pressure and a fast heart rate (caused by adrenal gland tumors); and

  • Swollen lymph nodes.

ICD-9: 194.0

ICD-10: C74.9

PROGRESSION

Neuroblastoma occurs in infants and young children, and is frequently diagnosed before age 5. It may occur in older children but only rarely.

Stage IV is considered advanced if the tumor has spread to other parts of the body, most commonly the skin, liver or bone marrow. Stage IVS applies only to children younger than 1 year old. However, despite the extent of metastasis, babies with Stage IVS have a good chance of recovery, and sometimes the condition sometimes resolves without any treatment.

Patients older than 18 months usually present with metastatic disease and have poor outcomes despite intensive therapy. Most recurrences occur during the first 2 years following treatment.

TREATMENT

Treatment varies depending on location of the tumor, the stage of the cancer, and patient’s age. The types of treatment may include surgery, chemotherapy, and radiation therapy. Stem cell transplantation may be needed for patients with high-risk disease.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

Suggested Listings for Evaluation:

  • Clinical history and examination that describes the diagnostic features of the impairment;

  • Imaging tests;

  • Pathology/biopsy report of the cancer; and

  • Treatment records including surgical procedures, and up-to-date progress notes.

DETERMINATION

LISTING

REMARKS

Meets

113.21 B

Requires documentation of metastasis or recurrence.

113.21 C

Requires documentation of metastasis or recurrence.

Equals

 

 

* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.700 Child Lymphoma

 

COMPASSIONATE ALLOWANCE INFORMATION

CHILD LYMPHOMA

ALTERNATE NAMES

Childhood Non-Hodgkin Lymphoma; Pediatric Non-Hodgkin Lymphoma; Diffuse Large B-cell Lymphoma; B-cell Lymphoma; T-cell Lymphoma; Peripheral T-cell Lymphoma; Follicular Lymphoma; Burkitt Lymphoma; Anaplastic Large Cell Lymphoma; Hodgkin Lymphoma; Hodgkin Disease; Pediatric Hodgkin Lymphoma; Classical Hodgkin Lymphoma; Nodular Lyphocyte-Predominant Hodgkin Lymphoma

DESCRIPTION

Cancer cells that start in the lymphatic systems are called lymphomas. When cancer cells get into the lymphatic system, the cancerous cells can also spread to other organs and tissues in the body. Child Lymphoma is the third most common cancer in children. Most childhood lymphomas can be classified as one of the following four types:

  • Burkitt lymphoma (BL), or small noncleaved cell lymphoma (SNCCL);

  • Lymphoblastic lymphoma (LL) - adjudicators are reminded that lymphoblastic lymphoma is a type of lymphoma that is similar to acute leukemia and needs to be evaluated under listing 13.06;

  • Diffuse large B-cell lymphoma (DLBCL); and

  • Anaplastic large cell lymphoma (ALDL).

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing: Diagnostic testing for child lymphoma includes:

  • Physical examination;

  • Blood and urine tests;

  • Lymph node biopsy;

  • Bone marrow aspirate and biopsy;

  • Lumbar puncture;

  • Removal of fluid from chest or abdomen for testing;

  • X-rays;

  • Ultrasound;

  • Radionuclide bone scan; and

  • MRI, CT, and PET scan.

Physical findings: Signs of childhood lymphoma may include:

  • Breathing problems;

  • Swollen lymph nodes;

  • Wheezing;

  • Coughing;

  • Swelling of the head, neck, upper body or arms;

  • Experience difficulties swallowing;

  • Painless swelling of the lymph nodes in the neck, underarm, stomach or groin;

  • Unexplained weight loss;

  • Night sweats; and

  • Fever.

Childhood lymphoma may cause many different signs and symptoms, depending on the location of the tumors.

  • Lymphoma that grows close to the surface of the body (sides of the neck, underarm area above the collarbone or in the groin area) may have enlarged nodes that are seen or felt as in lumps under the skin.

  • Lymphoma that is in the abdomen area will cause it to become swollen and tender.

  • Lymphoma that starts in the thymus gland or lymph nodes of the chest or near the windpipe (trachea) may cause swelling and a bluish-red skin color.

ICD-9: 200.2; 200.5; 200.6; 200.7; 202.0; 202.7; 202.8

ICD-10: C85.90

PROGRESSION

Lymphoma is usually a disease of rapid onset and progression. Although the prognosis greatly depends on histology, extent of the disease, presence or absence of metastasis; the child’s age; and response to therapy, the majority of children with newly diagnosed child lymphoma are considered to have an excellent prognosis. Children with recurrent lymphoma have a less favorable prognosis and require longer treatment. Children with lymphoma that involves the brain, spinal cord, bone marrow, liver or lung are also associated with a less favorable prognosis. If the child does not respond to chemotherapy drugs, the disease can cause rapid death.

TREATMENT

By the time that a child is diagnosed with recurrent lymphoma, the lymphoma has spread to other parts of the body. Most children with recurrent lymphoma are treated with chemotherapy. Chemotherapy is the most important treatment for children with lymphoma because chemotherapy can reach all parts of the body and kill lymphoma cells wherever they may be. It is common to use a combination of drugs and treatment, including intrathecal therapy (injection of chemotherapy into the spinal fluid), that may last a number of months or years.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Clinical history and examination that describes the diagnostic features of the impairment;

  • Pathology/biopsy report of the cancer; and

  • CT scan, MRI scan, or ultrasound reports.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

113.05 A 1

Primary lymphoma (excluding lymphoblastic) which involves brain, spinal cord, bone marrow, liver, or lung meets the criteria in listing 113.05 A 1 for non-Hodgkin lymphoma and Hodgkin lymphoma.

113.05 A 2

Recurrent or persistent lymphoma regardless of location, following initial treatment meets the criteria in listing113.05 A 2, for non-Hodgkin lymphoma and Hodgkin lymphoma.

113.05 B 1

Primary lymphoma (excluding lymphoblastic) which involves brain, spinal cord, bone marrow, liver, or lung meets the criteria in listing and 113.05 B 1 for non-Hodgkin lymphoma and Hodgkin lymphoma.
113.05 B 2 Recurrent or persistent lymphoma regardless of location, following initial treatment meets the criteria in listing 113.05 B 2, for non-Hodgkin lymphoma and Hodgkin lymphoma.

Equals

* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.705 Chondrosarcoma—with multimodal therapy

 

COMPASSIONATE ALLOWANCE INFORMATION

CHONDROSARCOMA

ALTERNATE NAMES

Chondrosarcoma Grade III; Dedifferentiated Chondrosarcoma; Mesenchymal Chondrosarcoma

DESCRIPTION

Chondrosarcoma is the second most common form of bone cancer that primarily affects people over 40 years old, although it sometimes affects younger adults, adolescents, and children. It usually originates in the legs, arms, shoulder blades, ribs, pelvis, or pelvic bones, but may be found in any bone and sometimes outside of the bones (e.g., adjacent muscles). Chondrosarcoma with multimodal therapy indicates that the response to treatment has been poor and requires a combination of chemotherapy, surgery, and radiation therapy before or after surgery.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing : Diagnostic testing for chondrosarcoma includes x-rays, CT or MRI imaging to identify the tumor. A biopsy confirms the diagnosis.

Physical findings: Physical findings of chondrosarcoma vary, depending on the location and size of the tumor. Individuals may experience:

  • Pain; Swelling or a lump at the tumor site;

  • Unexplained weight loss;

  • Fatigue;

  • Difficulties breathing;

  • Fatigue; and

  • Fever or night sweats.

ICD-9: 170

ICD-10: C79.51

PROGRESSION

Chondrosarcoma usually begins as a single tumor. Spread (metastases) to other parts of the body is common if the disease progresses to grade III, dedifferentiated, or mesenchymal chondrosarcoma. Inoperable, unresectable, and metastatic chondrosarcomas have poor prognoses, with less than a third of patients surviving five years.

TREATMENT

Surgery is the main treatment. Doctors may also use adjuvant chemotherapy if the cancer has spread. Recurrent chondrosarcoma may require surgery and radiation, and perhaps ablation treatments (e.g., liquid nitrogen or heating probes) to remove residual tumor.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Report that specifies the type, extent, and site of the primary, recurrent, or metastatic lesion;

  • Biopsy or needle aspiration information found in operative notes, pathology reports, summaries of hospitalization or other medical reports that include details of the surgical and pathological findings;

  • Clinical history and examination that describes the diagnostic features of the impairment;

  • Imaging tests; and

  • Treatment records including surgical procedures, and up-to-date progress notes.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

13.11 D

Chondrosarcoma in adults treated with multimodal therapy meets 13.11 D without regard to effectiveness of treatment.

113.03

Pediatric chondrosarcoma meets listing 113.03.

Equals

 

 

* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.710 Cornelia de Lange Syndrome--Classic Form

COMPASSIONATE ALLOWANCE INFORMATION

CORNELIA de LANGE SYNDROME - CLASSIC FORM

ALTERNATE NAMES

Classic Form Cornelia de Lange Syndrome; CDLS1, Brachmann-De Lange Syndrome; BDLS; CdLS; de Lange Syndrome; Amsterdam Dwarfism; Bushy Syndrome

DESCRIPTION

Cornelia de Lange Syndrome (CdLS) is a genetic disorder that affects multiple body systems. There are three forms of this disorder--the classic or severe form, caused by mutations on the NIPBL gene; and the milder forms, CDLS2 and CDLS3, caused by mutations in SMC1A and SMC3 genes.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing: The diagnosis of the classic form of CdLS requires a positive finding of mutations in the NIPBL gene.

Physical findings: In children, classic CdLS is characterized by:

  • Early feeding difficulties;

  • Global developmental delays with severe to profound intellectual disabilities;

  • Limited language;

  • Poor growth;

  • Skeletal abnormalities involving missing digits of the hands (oligodacyly);

  • Small head size (microcephaly);

  • Characteristic facial features with low set ears, long eyelashes, bushy eyebrows joined in the middle (synophrys), widely spaced teeth, upturned nose;

  • Excessive body hair (hirsutism);

  • Cardiac septal defects;

  • Genital abnormalities (males);

  • Musculoskeletal abnormalities including reduction defects with absent forearms alone, small hands or feet, and missing fingers;

  • Seizures;

  • Gastroesophageal reflux;

  • Hearing loss; and

  • Vision abnormalities.

Some children with CdLS demonstrate stereotypical behaviors similar to autism, including self-stimulation, self-destructive tendencies, hyperactivity, and other behavior problems.

ICD-9: 759.89

ICD-10: Q87.1

PROGRESSION

Prenatal onset growth failure occurs in most newborns with CdLS, with continuing postnatal height, weight, and head circumference growth below the fifth percentile throughout life. Most individuals with classic CdLS have been reported to have severe to profound intellectual disability with IQs ranging from 30 to 86 (mean 53).

TREATMENT

There is currently no cure for this disorder. Treatment and management of CdLS is symptomatic, such as gastrostomy tube placement for nutrition and gastroesophageal reflux, and anticonvulsant medication for seizures. Death most commonly is related to aspiration pneumonia.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Clinical history and examination that describes the diagnostic features, physical findings of the impairment;

  • Laboratory studies; and

  • Developmental assessment or psychological testing to address allegations of mental impairment may be warranted.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

110.08 B

 

Equals

 

 

* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.715 Ewing Sarcoma

COMPASSIONATE ALLOWANCE INFORMATION

EWING SARCOMA

ALTERNATE NAMES

Ewing Tumor; Ewing Sarcoma of Bone, Ewing Sarcoma of Soft Tissue; Primitive Neuroectodermal Tumor; PNET; Askin Tumor; Diffuse Bone Endothelioma; Endothelial Myeloma; Bone Endothelioma; Endothelial Sarcoma of Bone; Extraosseous Ewing Sarcoma

DESCRIPTION

Ewing Sarcoma is a malignant, vascular, solid, round-cell tumor in which cancer cells are found in the bone or in soft tissue. The most common areas in which it occurs are the pelvis, the femur, the humerus, and the ribs. It is an aggressive cancer and multimodal (therapy that combines more than one method of treatment) therapy is virtually always required.

Ewing Sarcoma is part of a group of four different types of cancer, known collectively as the Ewing Family of Tumors (EFT):

  • Ewing bone sarcoma, which accounts for about 85% of all cases, is usually found in the long bones in the arm or leg, although it sometimes occurs in the pelvis or ribcage;

  • Extraosseous sarcomas are tumors that occur outside the bone;

  • Primitive Neuroectodermal Tumor (PNET), also known as peripheral neuroepithelioma, can occur in bone and/or soft tissue; and

  • Askin tumor, a PNET that occurs in the marrow cavities of the chest wall.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing: Diagnostic testing for Ewing sarcoma includes:

  • X-rays;

  • Biopsy;

  • CT scan;

  • Radionuclide bone scan;

  • MRI; and

  • PET scan.

The definitive diagnosis is based on histologic findings, immunohistochemistry, and cytogenetic and molecular studies.

Physical findings : Physical findings may include:

  • Localized pain;

  • Swelling and warmth at site of tumor;

  • Fever;

  • Weight loss;

  • Pathological fracture;

  • Local tenderness; and

  • Visible blood vessels on skin over tumor.

ICD-9: 170.9

ICD-10: C41.9

PROGRESSION

Onset for Ewing Sarcoma can occur any time during childhood, with peak incidence in the teen years. The prognosis depends on the location of the tumor and whether or not the cancer has spread. Approximately 30% are metastatic at presentation. Diagnostic staging procedures attempt to distinguish individuals with localized disease from those with metastatic disease. Most commonly, metastases occur in the chest, bone, and/or bone marrow. Less common sites include the central nervous system and lymph nodes.

TREATMENT

All types of the Ewing Family of Sarcomas are treated similarly based on clinical presentation of local versus metastatic disease. The main treatments for Ewing Sarcoma are chemotherapy, surgery, and radiation, virtually always used in combination.

In the past, surgery on tumors in the arm or leg bones usually required amputation. However, new techniques such as limb-sparing surgery, bone grafts, and artificial bones, can help certain patients avoid losing an arm or leg and maintain some degree of function.

Side effects associated with radiation may include skin damage, muscle scarring and loss of joint flexibility, damage to nearby organs, loss of bone growth in growing children, secondary cancers caused by radiation, chronic swelling of an extremity, and slow wound healing.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Report that specifies the type, extent, and site of the primary, recurrent, or metastatic lesion;

  • Biopsy or needle aspiration information found in operative notes, pathology reports, summaries of hospitalization or other medical reports that include details of the surgical and pathological findings;

  • Clinical history and examination that describes the diagnostic features of the impairment;

  • Imaging tests; and

  • Treatment records including surgical procedures, and up-to-date progress notes.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

13.04

13.11

Ewing sarcoma in adults treated with multimodal therapy meets 13.11 D without regard to effectiveness of treatment.

113.03

Pediatric Ewing sarcoma meets 113.03.

Equals

* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.720 Follicular Dendritic Cell Sarcoma -- metastatic or recurrent

COMPASSIONATE ALLOWANCE INFORMATION

FOLLICULAR DENDRITIC CELL SARCOMA

ALTERNATE NAMES

Follicular Dendritic Cell Tumor/Sarcoma; FDCT/S; Dendritic Cell Sarcoma

DESCRIPTION

Follicular Dendritic Cell Sarcoma (FDCS) is part of a family of extremely rare soft tissue malignant neoplasms that have a significant recurrent and metastatic potential. Although most people with FDCS respond to initial treatment, most have recurrence of the cancer later. Most cases of FDCS develop in the lymph nodes, but approximately 30% of these sarcomas originate in extranodal sites (areas outside of the lymph nodes). Follicular Dendritic Cell Sarcoma that is metastatic or recurrent indicates that the malignant tumor has spread to other parts of the body, or has come back after treatment.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing : Diagnosing FDCS is difficult as the tumor closely mimics other tumors and tumor like conditions. Cases may need confirmation of diagnosis by immunohistochemistry. Imaging tests are used to detect recurrence or metastasis.

Physical findings: Individuals with FCDS may experience:

  • Swelling in the lymph nodes;

  • Cough;

  • Sore throat;

  • Difficulty swallowing;

  • Weight loss; and

  • Tiredness.

Individuals with abdominal FDCS may have pain in the abdominal area.

ICD-9: 202.98

ICD-10: C96.4

PROGRESSION

Age at onset is variable, with median age of 41 years of age. Current data show overall recurrence and metastatic rates of 43% and 24%, respectively.

TREATMENT

Currently there is no optimal standard treatment for FDCS. Treatment is supportive.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Clinical history and examination that describes the diagnostic features of the impairment;

  • Biopsy or needle aspiration information found in operative notes, pathology reports, summaries of hospitalization or other medical reports that include details of the surgical and pathological findings;

  • Imaging tests; and

  • Treatment records including surgical procedures, and up-to-date progress notes.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

13.04

Adult FDCS with metastases meets the criteria in listing 13.04 A. Adult recurrent FDCS meets the criteria in listing 13.04 B.
113.03

Pediatric FDCS meets the criteria in listing 113.03 A, regardless of metastases. Pediatric recurrent FDCS meets the criteria in listing 113.03 B.

Equals

 

 

* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.725 Fucosidosis -- Type I

COMPASSIONATE ALLOWANCE INFORMATION

FUCOSIDOSIS - TYPE I

ALTERNATE NAMES

Alpha-L-Fucosidase Deficiency; ALF; Fucosidosis Infantile Type; Fucosidosis Severe

DESCRIPTION

Fucosidosis Type I is a rare genetic disease that affects the brain, spinal cord, and many other organs, resulting in cellular death. Type I (infantile onset) is the most severe type, with manifestations starting around 10 months of age (range 3-18 months) with progressive dysfunction of the affected organs.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing: Urine testing that is positive for the presence of oligosaccharides (partially broken down sugars); Absent or deficiencies in activity of the enzyme alpha-L-fucosidase in blood or skin samples confirms the diagnosis.

Physical findings: Physical findings for individuals with Fucosidosis Type I include:

  • Distinct facial features such as, flat face, depressed nasal bridge, and bulging forehead;

  • Spasticity;

  • Seizures;

  • Progressive psychomotor and neurological deterioration;

  • Joint contractures;

  • Abnormal bone development;

  • Enlargement of the heart, liver and spleen;

  • Abnormal posture (bent arms, clenched fists, and legs held out straight, arms that are bent toward the body and wrists, and fingers that are bent and held on the chest);

  • Delayed growth; and

  • A characteristic “cherry red spot” may be noted on the retina.

ICD-9: 271.8

ICD-10: E77.1

PROGRESSION

Pulmonary infection and neurological deterioration are the major causes of death, usually by age 10 years.

TREATMENT

Currently there is no cure for this disorder. Bone marrow transplantation (BMT) has been tried on an experimental basis, but not enough information is available to know if BMT is an effective treatment option.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Clinical history and physical examination that describes the diagnostic features of the impairment;

  • Documentation of mental and motor deterioration, seizures, skin findings, facial features, etc; and

  • Laboratory investigation should include identification of the deficient enzyme activity in leucocytes, urine or skin fibroblasts.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

110.08 B

 

Equals

 

 

* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.730 Galactosialidosis -- Early and Late Infantile Types

COMPASSIONATE ALLOWANCE INFORMATION

GALACTOSIALIDOSIS -- EARLY and LATE INFANTILE TYPES

ALTERNATE NAMES

Protective Protein/Cathepsin A Deficiency ; PPCA deficiency; Cathepsin A Deficiency of GSL; Deficiency of Cathepsin A; Lysosomal Protein Deficiency; Neuraminidase with Beta galactosidase deficiency; Goldberg Syndrome

DESCRIPTION

Galactosialidosis is a rare inherited disorder caused by a mutation of the CTSA gene. There are three types of galactosialidosis: early infantile, late infantile and juvenile/adult form.

The most severe form of galactosialidosis, the early infantile type, results in early onset of edema (may be prenatal); ascites, enlarged internal organs in the abdominal cavity (visceromegaly), and skeletal dysplasia (disproportionately short stature).

The late infantile type starts in the first year of life and shares many of the clinical features of early infantile type, but symptoms and neurological deterioration does not progress as rapidly. Intellectual disability is common.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing: A direct assay system for protective protein/cathepsin A is available for prenatal diagnosis of galactosialidosis. After birth, the diagnosis is confirmed by reduced or absent beta-galactosidase enzymatic activity in white blood cells or in cultured skin fibroblasts. Urine tests may show excessive amounts of bound sialic acid and oligosaccharides (partially broken down sugars).

Physical findings : Physical findings for this conditions include:

  • Distinctive facial features (short nose, flat face, large head, bulging forehead);

  • Edema;

  • Ascites;

  • Umbilical or inguinal hernia;

  • Retinal cherry red spot;

  • Dysostosis multiplex;

  • Vertebral deformities;

  • Telangiectasias;

  • Enlarged liver and spleen (hepatosplenomegaly);

  • Enlarged heart (cardiomegaly);

  • Seizures;

  • Action myoclonus (abrupt spasms);

  • Ataxia;

  • Poor growth/short stature; and

  • Developmental delays or intellectual disability.

ICD-9: 271.8

ICD-10: E88.9

PROGRESSION

Signs of early infantile type galactosialidosis most often appear between birth and 3 months of age, with death usually occurring by one year of age due to renal or cardiac failure. Signs of late infantile type galactosialidosis appear around age 1.

TREATMENT

Currently there is no cure for this disorder. Treatment is supportive and symptomatic.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Clinical history and physical examination that describes the diagnostic features of the impairment;

  • Laboratory studies with documentation of reduced or absent beta-galactosidase enzymatic activity in white blood cells or in cultured skin fibroblasts; and

  • Urine tests with evidence of elevated amounts of oligosaccharides.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

110.08 A

Evaluate juvenile/adult onset galactosialidosis by the body systems involved on a case-by-case basis.

110.08 B

Equals

 

 

* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.735 Glioma - Grade III and IV

COMPASSIONATE ALLOWANCE INFORMATION

GLIOMA – GRADE III and IV

ALTERNATE NAMES

High Grade Malignant Glioma; Malignant Glioma Grade III; Malignant Glioma Grade IV; Glioblastoma; Anaplastic Astrocytoma; Undifferentiated Glioma; Anaplastic Glioma; Anaplastic Oligodendroglioma; Anaplastic Oligoastrocytoma; Giant Cell Glioblastoma; Gliosarcoma; Epithelioid Glioblastoma; Diffuse Midline Glioma

DESCRIPTION

Glioma is a broad category of brain and spinal cord tumors that come from glial cells, the main brain cells that can develop into cancer. Approximately 80% of malignant brain tumors are gliomas. These gliomas are categorized as ependymomas, astrocytomas or oligodendrogliomas. The exact cause of malignant gliomas is unknown.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing: MRI is the preferred diagnostic tool, however malignant gliomas are also diagnosed by CT scan and biopsy. Biopsy is often needed to establish the grade of the glioma.

Physical findings: Common signs and symptoms of malignant gliomas include:

  • Headache;

  • Nausea or vomiting;

  • Confusion or a decline in brain function;

  • Memory loss;

  • Personality changes or irritability;

  • Difficulty with balance;

  • Urinary incontinence;

  • Vision problems, such as blurred vision, double vision or loss of peripheral vision;

  • Speech difficulties; and

  • Seizures, especially in someone without a history of seizures.

ICD-9: 191.0-9

ICD-10: C71.9

PROGRESSION

Malignant gliomas can develop at any age. They tend to grow and become more malignant over time. The peak incidence generally occurs in the fifth and sixth decade of life. Prognosis is often poor for individuals with grades III and IV tumors with the average survival time approximately 12 months. Few individuals survive beyond three years with conventional treatment.

TREATMENT

Treatment depends on the location of the tumor and its progression. These tumors tend to grow or infiltrate into the normal brain tissue. Standard treatment is surgery followed by radiation therapy. If surgery is not an option, radiation therapy is given. Chemotherapy is sometimes given during or after radiation therapy.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Pathology report documenting type and stage of tumor;

  • Operative reports; and

  • MRI or CT scans.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

13.13 A 1 & 2

Grade III and IV gliomas meet the criteria in listing 13.13 A 1 & 2 upon confirmed diagnosis, regardless of effectiveness of treatment. Recurrent malignant gliomas meet 13.13 A 3 upon confirmed diagnosis, regardless of grade and effectiveness of treatment.

113.13 A & B

Grade III and IV gliomas meet the criteria in listing 113.13 A & B upon confirmed diagnosis, regardless of effectiveness of treatment.

Equals

* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022 TN 35 - Processing Quick Disability Determination (QDD) and Compassionate Allowance (CAL) in the Disability Determination Services (DDS) - 8/31/2020