Identification Number:
DI 23022 TN 32
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:Disability
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. 32, 08/25/2020

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 QAT - no IRD or AC approval needed.

Summary of Changes

DI 23022.120 Osteosarcoma

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

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

  • Updated spacing on bulleted lists in "Diagnostic Testing," "Physical Findings," and "Suggested MER for Evaluation" sections.

DI 23022.405 Hemophagocytic Lymphohistiocytosis

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

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

  • Updated incorrect condition name abbreviation from "FHLD" to "FHLH" where appropriate.

DI 23022.460 Mucosal Malignant Melanoma

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

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

DI 23022.465 Neonatal Adrenoleukodystrophy

  • Added "ICD-9-CM/ICD-10-CM" to section heading; and

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

DI 23022.470 (Neonatal) Glutaric Acidemia

  • Updated table style;

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

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

DI 23022.475 Niemann-Pick Disease - Type C

  • Updated table style;

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

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

DI 23022.555 Heart Transplant Graft Failure

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

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

DI 23022.560 Heart Transplant Wait List 1A/1B

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

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

DI 23022.565 Hypoplastic Left Heart Syndrome

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

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

DI 23022.575 Mitral Valve Atresia

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

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

DI 23022.745 Hepatoblastoma

  • Updated table style;

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

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

  • Updated spacing on bulleted lists in "Diagnostic Testing" and "Physical Findings" sections.

DI 23022.750 Histiocytosis Syndromes

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

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

  • Updated spacing on bulleted lists in "Description," "Diagnostic Testing," and "Physical Findings" sections.

DI 23022.755 Hutchinson-Gilford Progeria Syndrome

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

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

  • Updated spacing on bulleted lists in "Physical Findings" sections.

DI 23022.760 Hydranencephaly

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

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

  • Updated spacing on bulleted lists in "Physical Findings" sections.

DI 23022.765 Hypocomplementemic Urticarial Vasculitis Syndrome

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

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

DI 23022.770 Hypophosphatasia--Perinatal (Lethal) and Infantile Onset Types

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

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

  • Updated spacing on bulleted lists in "Physical Findings" sections.

DI 23022.775 I Cell Disease

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

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

  • Updated spacing on bulleted lists in "Diagnostic Testing" and "Physical Findings"

DI 23022.780 Infantile Free Sialic Acid Storage Disease

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

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

  • Updated spacing on bulleted lists in "Diagnostic Testing" and "Physical Findings"

DI 23022.800 Lymphomatoid Granulomatosis -- Grade III

  • Deleted second "physical findings" heading;

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

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

  • Updated spacing on bulleted lists in "Physical Findings" and "Suggested MER for Evaluation" sections

DI 23022.805 Malignant Brainstem Gliomas -- Childhood

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

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

  • Updated spacing on bulleted lists in "Diagnostic Testing," "Physical Findings," and "Suggested MER for Evaluation" sections.

DI 23022.815 Mastocytosis Type IV

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

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

  • Updated spacing on bulleted lists in "Diagnostic Testing," "Physical Findings," and "Suggested MER for Evaluation" sections.

DI 23022.820 Medulloblastoma

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

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

  • Updated spacing on bulleted lists in "Diagnostic Testing," "Physical Findings," and "Suggested MER for Evaluation" sections.

DI 23022.825 Merkel Cell Carcinoma – with metastases

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

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

  • Updated spacing on bulleted lists in "Diagnostic Testing," "Physical Findings," and "Suggested MER for Evaluation" sections.

DI 23022.835 Nephrogenic Systemic Fibrosis

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

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

  • Updated spacing on bulleted list in "Physical Findings" section.

DI 23022.840 Obliterative Bronchiolitis

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

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

  • Updated spacing on bulleted lists in "Diagnostic Testing" and "Physical Findings" sections.

DI 23022.955 Hepatopulmonary Syndrome

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

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

DI 23022.957 Hepatorenal Syndrome

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

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

DI 23022.959 Jervell and Lange-Nielsen Syndrome

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

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

DI 23022.961 Leiomyosarcoma

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

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

  • Updated spacing on bulleted lists in "Diagnostic Testing" and "Physical Findings" sections.

DI 23022.963 Malignant Gastrointestinal Stromal Tumor

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

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

  • Updated spacing on bulleted lists in "Diagnostic Testing" and "Physical Findings" sections

DI 23022.965 Malignant Germ Cell Tumor

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

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

  • Updated spacing on bulleted list in "Physical Findings" sections

DI 23022.969 Menkes Disease - Classic or Infantile Onset Form

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

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

  • Updated spacing on bulleted lists in "Diagnostic Testing" and "Physical Findings"

DI 23022.971 NFU-1 Mitochondrial Disease

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

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

DI 23022.120 Osteosarcoma

COMPASSIONATE ALLOWANCE INFORMATION

OSTEOSARCOMA

ALTERNATE NAMES

Osteogenic Sarcoma; Chondroblastic Osteocarcoma; Multifocal Osteosarcoma; Metastatic Osteosarcoma; Fibroblastic Osteosarcoma; Central Osteosarcoma; Conventional Central Osteosarcoma; Classical Osteosarcoma; Osteoblastic Sarcoma; Central Osteogenic Sarcoma; Sclerosing Osteosarcoma

DESCRIPTION

Osteosarcoma is the most common bone cancer in children and adolescents, with peak onset in the second decade. It tends to occur in the long bones (particularly distal femur, proximal tibia, and proximal humerus), but can occur in any bone. The lungs are the most common site of metastasis. Kidneys, adrenal gland, brain, and heart can also be sites of metastasis.

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

Diagnostic testing: Diagnostic testing for osteosarcoma includes:

  • Surgical biopsy;

  • X-rays;

  • CT scan;

  • MRI scan; and

  • Radionuclide bone scans.

Physical findings : The signs and symptoms of osteosarcoma may include:

  • Swelling or pain at site of tumor or with activity;

  • Limping (if tumor is in leg);

  • Limitation of motion of the affected area; and

  • Pathologic fractures.

ICD-9: 170

ICD-10: C41.9

PROGRESSION

The prognosis of osteosarcoma depends on age at presentation, the extent of the disease (size and location of tumor, presence or absence of metastasis), and the response to therapy. Long-term survival rates are better if the cancer has not spread to the lungs (pulmonary metastasis). If the cancer has spread to other parts of the body, prognosis is better and there is still a chance of cure with effective treatment.

TREATMENT

Treatment may include chemotherapy, radiation, surgery, bone grafting, limb-amputation, and limb-saving (salvage) surgery.

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

13.11 A

Osteosarcoma that is inoperable or unresectable meets listing 13.11 A.

13.11 C

Osteosarcoma that has distant metastases meets listing 13.11 C.

13.11 D

Osteosarcoma in adults treated with multimodal therapy meets 13.11 D without regard to effectiveness of treatment.

113.03 A or B

Pediatric osteosarcoma meets 113.03 (solid tumors); only a pathology report is needed.

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 23022.405 Hemophagocytic Lymphohistiocytosis

COMPASSIONATE ALLOWANCE INFORMATION

HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS - FAMILIAL TYPE

ALTERNATE NAMES

FHLH types 1, 2, 3, 4 and 5; FHL; HLH; HPLH; Familial Erythrophagocytic Lymphohistiocytosis; Erythrophagocytic Lymphohistiocytosis; Familial Histiocytic Retulosis; Familial Hemophagocytic Lymphohistiocytosis

DESCRIPTION

Familial Hemophagocytic Lymphohistiocytosis (FHLH) is a rare, genetic disease that is caused by mutations in the perforin 1 (PRF1) gene. FHLH is characterized by uncontrolled activation of the immune system. The T cells, macrophages and overproduced inflammatory cytokines infiltrate the liver, spleen, bone marrow and central nervous system resulting in a multi-system disorder. The highly stimulated and ineffective immune response threatens the life of the individual and may lead to death unless appropriate and timely treatment is provided. It commonly appears in infants and during early childhood, although it can appear in all age groups. FHLH can be triggered by infections, viruses such as Epstein-Barr, rheumatic diseases and malignancies.

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

Diagnostic testing : A molecular diagnosis confirms the disease. Clinical evaluation of fever and splenomegaly, and blood tests which measure high triglycerides, ferritin, transaminases, bilirubin, coagulation time and decreased fibrinogen.

Physical findings: Children with FHLH present with:

  • Prolonged high fever;

  • Splenomegaly (enlarged spleen);

  • Liver abnormalities;

  • Cytopenia;

  • Hypofibrinogenemia or hypertriglyceridemia;

  • Hemophagocytosis;

  • Skin rashes on the scalp and behind the ears;

  • Swollen or hemorrhagic gums;

  • Abdominal pain;

  • Vomiting;

  • Diarrhea;

  • Weight loss;

  • Jaundice;

  • Engulfment and destruction of blood cells in the bone marrow and other tissues; and

  • Failure to thrive.

ICD-9: 288.4

ICD-10: D76.1
PROGRESSION

FHLH is uniformly fatal if not treated. The prognosis is varied for those receiving treatment. The median survival time is 2-6 months after diagnosis without treatment, but survival time has dramatically improved with advent of recent treatment protocols. Even with treatment, approximately 21% of individuals with FHLH can be expected to survive 5 years but survival rates of up to 66% have been reported in those receiving bone marrow transplantation (versus 10% of patients receiving chemotherapy alone). Success or failure of an allogenic bone marrow transplant if the most important long-term prognostic factor. Without treatment, the uncontrolled inflammatory response leads to sustained neutropenia and death from bacterial or fungal infections as well as from cerebral dysfunction.

TREATMENT

Individuals with FHLH may be classified into high-risk and low-risk groups. Patients who are at low risk may be treated effectively with cyclosporine, corticosteroids or IVIG. Those at high-risk may require chemotherapy. The first goal of treatment is to achieve clinical stability and then to cure with bone marrow transplant.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

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

  • Laboratory studies measuring high triglycerides, ferritin, transaminases, bilirubin, coagulation time and decreased fibrinogen.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

Equals

114.07 A, B, or C

Need to differentiate Familial HLH from Acquired or Secondary HLH, which has a very good prognosis.

* 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 23022.460 Mucosal Malignant Melanoma

COMPASSIONATE ALLOWANCE INFORMATION

MUCOSAL MALIGNANT MELANOMA

ALTERNATE NAMES

Primary Mucosal Melanomas; Extracutaneous Malignant Melanomas (EMM); Primary Sinonasal Mucosal Melanoma (SNMM); Anorectal Melanoma (ARM); Mucosal Melanoma of the Head and Neck; Melanoma of the Esophagus; Melanoma of the Male Genito-Urinary Tract; Vulval Melanoma; Vaginal Melanoma; Mucosal Melanoma; Buccal Melanoma; Oral Melanoma

DESCRIPTION

Malignant Mucosal Melanomas are rare cancers, representing <1% of all melanomas. They are distinguished from cutaneous (skin) melanomas in that they orginate in the mucus membranes lining the respiratory, digestive, and genitourinary tracts or in the eyes as well as in the cerebral meninges. The most common type of mucosal melanomas occurs in the head and neck area.

Because they are not easily detected, they are often diagnosed very late in their course and have poor prognosis for recovery using standard therapies. Five-year survival data shows a rate of 10-15%. The disease occurs primarily in the elderly and affect both genders equally.

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

Diagnostic testing : A biopsy of the pigmented lesion is performed and reviewed by a pathologist. Additionally, lymph node biopsy of the regional nodes may be performed to determine staging.

Other supporting lab tests include:

  • X-rays;

  • CT scan;

  • MRI;

  • PET scan; or

  • Other imaging studies.

Physical findings : The nasal cavity is the most common location of mucosal melanoma within the head and neck area; and it may present with epistaxis, nasal obstruction, or facial pain. Those lesions involving the oral cavity usually present as a painless mass with ulceration/bleeding. Involvement of the genital/urinary tracts may present with abnormal discharge or bleeding/hematuria. The rectal area may involve pain or a mass.

ICD-9: Coded according to site of malignant neoplasm

ICD-10: C43

PROGRESSION

This is a rare condition with a peak incidence in patients aged 60-80 years. Unlike melanomas involving the skin, exposure to sunlight is not a risk factor. Prognosis is poor and survival times vary with the location of the melanoma and stage of the disease at the time of diagnosis.

TREATMENT

Treatment involves surgical resection and may include adjuvant radiation and chemotherapy. As there is a high incidence of systemic disease in these cases, a CT/PET scan is indicated prior to radical surgery. Metastatic disease is not curable.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

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

  • Pathology report; and

  • Documentation of mucosal melanoma metastasis.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

13.29 C

Mucosal melanoma meets the criteria in listing 13.29 C.

113.29 C

Mucosal melanoma meets the criteria in listing 113.29 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 23022.465 Neonatal Adrenoleukodystrophy

COMPASSIONATE ALLOWANCE INFORMATION

NEONATAL ADRENOLEUKODYSTROPHY

ALTERNATE NAMES

NALD; Neonatal ALD; Peroxisomal Biogenesis Disorder; PBD; Zellweger Syndrome Spectrum; ZSS; Adrenoleukodystrophy Autosomal Neonatal Form; Peroxisomal Acyl-CoA Oxidase Deficiency; Straight-Chain Acyl-CoA Oxidase Deficiency; Pseudo-Neonatal Adrenoleukodystrophy; Pseudoadrenoleukodystrophy

DESCRIPTION

Neonatal Adrenoleukodystrophy (NALD) is a leukodystrophy that causes damage to the myelin sheath, an insulating membrane that surrounds nerve cells in the brain (white matter). NALD also affects the adrenal glands and the testes. NALD belongs to the Zellweger spectrum of peroxisome biogenesis disorders (PDB, ZSS), is considered a moderately severe form and is caused by a mutation of several PEX genes.

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

Diagnostic testing :

  • Biochemical abnormalities detected in the blood and/or urine should be confirmed in cultured fibroblasts. The tests are used to detect accumulation of very long chain fatty acids (VLCFS) and whether the serum pipecolic acid is elevated (this finding helps differentiate NALD from X-ALD).

  • Blood studies may detect adrenal insufficiency.

  • MRI limited to the cerebellum may show defects in the white matter of the brain.

  • ERG (electroretinogram) will be abnormal in those with retinal pigmentary degeneration.

  • Hearing tests may be abnormal.

  • Molecular genetic testing for mutations in the PEX genes.

Physical findings: Symptoms of NALD include:

  • Hypotonia;

  • Poor feeding;

  • Distinctive facial characteristics such as high forehead, a large anterior fontanelle, broad nasal bridge, crossed eyes, deformed ear lobes and skin folds;

  • Seizures and liver cysts with hepatic dysfunction; and

  • Bony stippling of the patella and other long bones.

The clinical course of NALD is variable and may include:

  • Developmental delays;

  • Hearing loss;

  • Vision impairment;

  • Liver dysfunction; and

  • Episodes of hemorrhage and intracranial bleeding.

ICD-9: 277.86

ICD-10: E71.511

PROGRESSION

NALD is a serious disease with most children dying as infants or before 3 years of age. While some children can be very hypotonic, others learn to walk and talk. The condition is often slowly progressive and may include degeneration of the myelin leading to loss of previously acquired skills and ultimately death. Children who survive in the first year and who have a non-progressive course have a 77% probability of reaching school age.

TREATMENT

There is currently no cure for this disease. Treatment is symptomatic and supportive and may include feeding tubes, hearing aids, cataract removal, vitamin K and other fat-soluble vitamin supplements and other liver dysfunction therapies, and anti-epileptic drugs to control seizures.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Current complete clinical examination that describes diagnostic features and severity of the impairment;

  • Plasma VLCFA abnormalities as outlined above or mutations in the PEX genes confirm a diagnosis of one of the PBD’s; and

  • If a PBD has not been confirmed by either biochemical or genetic testing, a complete review of the clinical history, course and laboratory studies on which the disorder is suspected will need to be undertaken. Differentiation of NALD from the other PBDs will then depend on the other physical and laboratory findings.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

110.08

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 23022.470 (Neonatal) Glutaric Acidemia

COMPASSIONATE ALLOWANCE INFORMATION

GLUTARIC ACIDEMIA – TYPE II

ALTERNATE NAMES

Electron transfer flavoprotein deficiency; EMA; ETFA deficiency; ETFB deficiency; ETFDH deficiency; Ethylmalonic-adipicaciduria; GA II; Glutaric acidemia, type 2; MAD; MADD; Multiple acyl-CoA dehydrogenase deficiency; Multiple FAD dehydrogenase deficiency; Glutaric aciduria

DESCRIPTION

Glutaric Acidemia - Type II is an inherited disorder that interferes with the body's ability to break down proteins and fats to produce energy. Incompletely processed proteins and fats can build up in the body and cause the blood and tissues to become too acidic (metabolic acidosis).

This disorder usually appears in infancy or early childhood as a sudden episode called a metabolic crisis, in which acidosis and low blood sugar (hypoglycemia) cause weakness, behavior changes such as poor feeding and decreased activity, and vomiting. These metabolic crises, which can be life threatening, may be triggered by common childhood illnesses or other stresses.

In the most severe cases of Glutaric Acidemia - Type II, affected infants may also be born with physical abnormalities. These may include brain malformations, an enlarged liver (hepatomegaly), a weakened and enlarged heart (dilated cardiomyopathy), fluid-filled cysts and other malformations of the kidneys, unusual facial features, and genital abnormalities. Glutaric Acidemia - Type II may also cause a characteristic odor resembling that of sweaty feet.

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

 

Diagnostic testing: Laboratory evidence of elevation of several amino acids in the urine, a low pH and hypoglycemia. Diagnosis can be confirmed by measurements of enzyme levels and genetic testing for mutations of three genes, ETFA, ETFB, and ETFDH, if available, in the records.

Physical findings : The most severely affected child will have some anomalies, including:

  • High forehead;

  • Low-set ears;

  • Rocker bottom feet;

  • Genital abnormalities; and

  • Enlarged liver (hepatomegaly).

ICD-9: 277.85

ICD-10: E71.31
TREATMENT

For the infant whose diagnosis has been made early enough the treatment consists of a diet low in fats and proteins and a carnitine replacement.

PROGRESSION

The majority of infants affected by this disorder develop symptoms in the first week of life. These may be lethargy, hypotonia, tachypnea and poor feeding. A telltale sign may be a “sweaty feet odor”. Most cases quickly progress to metabolic acidosis, respiratory compromise and early death. For some with less severe enzyme deficiencies metabolic decompensation may occur in association with a common childhood illness.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Clinical examination that describes diagnostic features of the impairment;

  • Description of physical findings;

  • Genetic testing; and

  • Blood and urine testing.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

110.08 A

110.08 B may occasionally be used for cases that have survived the newborn period but have neurologic impairments.

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 23022.475 Niemann-Pick Disease - Type C

COMPASSIONATE ALLOWANCE INFORMATION

NIEMANN-PICK DISEASE - TYPE C

ALTERNATE NAMES

NPD; NPD-C; NP-C; NPC; NPD type C; Niemann-Pick type II; Sphingomyelinase deficiency; Neuronal Cholesterol Lipidosis

DESCRIPTION

Neimann-Pick Disease - Type C (NPC) is one of 5 types of Niemann-Pick Disease (NPD) and is a genetic disorder that results in progressive loss of nervous system function by affecting the membranes of nerve cells. Mutations in either the NPC1 or NPC2 genes cause NPC. NPC may appear early in life or develop in the teen or adult years.

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

Diagnostic testing: A skin biopsy and (if available) DNA genetic testing is used to diagnose NPC. Additional tests such as slit-lamp eye exam to assess vision loss, liver biopsy, MRI and psychometric testing.

Physical findings : At birth, the infant may have:

  • Jaundice;

  • Feeding problems;

  • Dystonia (abnormal muscle contraction causing repetitive involuntary muscle movements);

  • Inadequate weight gain (failure to thrive);

  • Developmental problems;

  • Moderate enlargement of the spleen and liver (hepatosplenomegaly);

  • Inability to look up and down;

  • Difficulty in walking and swallowing;

  • Progressive loss of vision and hearing;

  • Seizures;

  • Dementia;

  • Slurred and irregular speech; and

  • Tremors.

ICD-9 : 272.7

ICD-10: E75.242

TREATMENT

There is currently no effective cure for this disease. Medicines are available to control or relieve many symptoms such as cataplexy and seizures.

PROGRESSION

The life expectancy of people with NPC varies. Some people die in childhood while others who appear to be less severely affected, live into adulthood. A child who shows signs of NPC before age 1 may not live to school age. Those who show symptoms after entering school may live into their mid-to-late teens, with a few surviving into the 20s.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Clinical examination that describes diagnostic features of the impairment;

  • Laboratory tests showing intravesicular cholesterol storage is diagnostic of this disorder;

  • Molecular genetic testing utilizing sequence analysis that identifies mutations in either NPC1 or NPC2 gene;

  • If laboratory testing or molecular genetic testing results have are not available or are non-diagnostic, then complete review of the clinical course and all of the laboratory data on which the disorder is suspected will need to be reviewed; and

  • To establish the severity of this disorder, complete physical, neurological, and mental examinations may be needed if one of these examinations alone is insufficient to meet a listing.

Suggested Listings for Evaluation:

DETERMINATION LISTING

REMARKS

Meets

110.08

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 23022.555 Heart Transplant Graft Failure

COMPASSIONATE ALLOWANCE INFORMATION

HEART TRANSPLANT GRAFT FAILURE

ALTERNATE NAMES

Graft Rejection; Tissue Rejection; Organ Rejection; Primary Graft Dysfunction; Cardiac Allograft Vasculopathy

DESCRIPTION

Heart Transplant Graft Failure occurs when a heart transplant recipient’s immune system identifies the transplanted organ (donor heart) as foreign material within the body and attempts to destroy it (rejection). Individuals who receive a heart transplant are monitored closely for signs of organ rejection.

A cardiologist will monitor the heart transplant recipient for signs of rejection. Rejection is one of the leading causes of death in the first year after the organ transplant. Rejection can occur within days of transplantation. Primary graft dysfunction is the most frequent cause of death in the first month after transplant. Chronic rejection occurs months to years after transplantation. When the person is experiencing chronic rejection, the rate of rejection is slow and progressive, with a gradual loss of heart function, eventually leading to heart failure and consideration for a re-transplant.

Failure of the donor heart can also occur if cardiac allograft vasculopathy (CAV) develops. CAV is a chronic (on-going) disease in which the walls of the coronary arteries in the new heart become thick, hard, and lose their elasticity. CAV can impair blood circulation in the new heart and cause serious damage. CAV is a leading cause of donor heart failure and death in the years following transplant surgery. CAV may contribute to heart attack, heart failure, dangerous changes in heart rhythm (arrhythmias) and sudden cardiac arrest.

Immunosuppressive drugs are prescribed to prevent organ rejection. If these drugs are not given, the transplanted heart would induce an immune response in the recipient’s body resulting in loss of heart function.

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

Diagnostic testing: Diagnostic testing used in the identification of organ failure such as magnetic resonance imaging (MRI) identifies physical changes in the structure of the heart and measures systolic and diastolic function. The evaluation of myocardial dysfunction is used to detect heart transplant rejection.

Physical findings: Symptoms of transplant failure include:

  • Heart failure with generalized edema (swelling);

  • General discomfort or ill feeling;

  • Pain or swelling in the location of the organ; and

  • Fever.      

ICD-9: 996.83

ICD-10: T86.21

TREATMENT

Cardiac graft rejection is an important factor limiting the long-term survival after heart transplantation. Because the signs and symptoms are generally silent and not immediately noticed by the heart transplant recipient, regular follow-up with a cardiologist promotes the timely detection of complications resulting from heart transplantation. The goal of treatment is to ensure that the transplanted heart is functioning properly and to suppress the recipient’s immune system response. Immunosuppressive drugs are prescribed to stop rejection. These drugs must be taken for the rest of the person’s life.

PROGRESSION

The onset and progression of heart transplant graft failure are variable and dependent on the clinical condition of the donor. It can begin within days of transplantation to months or years after the donor heart has been received.

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

  • Cardiology consultation reports;

  • Imaging studies of the heart; and

  • Blood laboratory testing

Suggested Listings for Evaluation:
DETERMINATION

LISTING

REMARKS
Meets 4.09
104.09
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 23022.560 Heart Transplant Wait List 1A/1B

COMPASSIONATE ALLOWANCE INFORMATION

HEART TRANSPLANT WAIT LIST 1A/1B

ALTERNATE NAMES

Cardiac Transplant; Transplant-Heart

DESCRIPTION

Heart Transplant is a life-saving surgical procedure to replace a person’s diseased heart with a healthy heart from a deceased person (donor). Heart transplantation is considered when there are no other medical or surgical options available to the patient. Ninety percent of heart transplantations are done on persons who have “end-stage” heart failure. End-stage means that the condition has become so severe that all treatments, other than heart transplant, have failed. Donor hearts are in short supply, so individuals who need a heart transplant go through a careful selection process at a heart transplant center. Persons who are eligible for a heart transplant are placed on a waiting list. The United Network for Organ Sharing (UNOS) manages the heart transplant waiting list. In order to determine the order of priority for receipt of a donor heart, individuals are classified by degrees of severity for a donor heart, blood type, body weight, and geographic location.

Individuals classified as Status 1A have the highest priority on the heart transplant waiting list. Status 1A are individuals who must stay in the hospital as in-patients and require high doses of intravenous drugs, require a ventricular assist device (VAD) for survival, are dependent on a ventilator or have a life expectancy of a week or less without a transplant.

Individuals classified as Status 1B are generally not required to stay in the hospital as in-patients. These individuals may require a VAD or low doses of continuous intravenous medications. Individuals classified as Status 1B have the second highest priority on the heart transplant, wait list.

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

Diagnostic testing: Medical report of physical findings including:

  • A statement that the person has been placed on the heart transplant waiting list;

  • Chest x-ray;

  • Electrocardiogram;

  • Echocardiogram;

  • Cardiac catherization; and

  • Cardiac magnetic resonance imaging (MRI).

Physical findings: The symptoms of end-stage heart failure include:

  • Dyspnea (shortness of breath);

  • Chronic cough or wheezing;

  • Edema;

  • Nausea or lack of appetite;

  • A high heart rate; and

  • Confusion or impaired thinking.   

ICD-9: 428.0

ICD-10: Z94.1

TREATMENT

Persons on the waiting list for a donor heart receive ongoing treatment for heart failure and other medical conditions such as irregular heartbeats (arrhythmias). These conditions can cause sudden cardiac death. Depending on the severity of their condition, some persons receive mechanical assist devices such as implantable cardioverter defibrillators (ICDs) to control the irregular heartbeat or a VAD to help the heart pump blood before the actual heart transplant surgery. Heart transplant surgery carries many risks including rejection of the donor heart. Signs of rejection include shortness of breath, fever, fatigue, weight gain, and reduced amounts of urine resulting from kidney problems. Other complications include medication reaction, infection, and cancer. Cardiac Allograft Vasculopathy (CAV), a blood vessel disease, may develop.

PROGRESSION

There is currently a shortage of donor hearts available for the approximately 3,000 people on the waiting list for a heart transplant in the United States. Organs are matched for blood type and size of donor and recipient. A person can be taken off the waiting list if a serious medical event such as a stroke, infection, or kidney failure develops. Time spent on the heart transplant waiting list is a key factor in determining who receives a donor heart. Another factor that is taken into consideration is the urgency of need. Some individuals die while waiting for a suitable donor heart due to the current shortage of available donor hearts.

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

  • Operative reports;

  • Cardiology consultation reports;

  • X-ray showing heart failure; and

  • Transthoracic echocardiogram showing indications of the need for mechanical assist devices such as ICDs or VADs.

Suggested Listings for Evaluation:
DETERMINATION

LISTING

REMARKS
Meets 4.02
104.02 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 23022.565 Hypoplastic Left Heart Syndrome

COMPASSIONATE ALLOWANCE INFORMATION

HYPOPLASTIC LEFT HEART SYNDROME

ALTERNATE NAMES

HLHS; Aortic and Mitral Atresia with Hypoplastic Left Heart Syndrome; Congenital Heart – Hypoplastic Left Heart; Cyanotic Heart Disease – Hypoplastic Left Heart
DESCRIPTION

Hypoplastic Left Heart Syndrome (HLHS) is a rare congenital heart defect in which the left side of the heart is severely under-developed. The structures of the heart that are usually affected include the mitral valve, left ventricle, aortic valve and the aorta. Because the left side of the heart is unable to send enough blood to the body, the right side of the heart must maintain the circulation for both the lungs and the body. This extra work eventually causes the right side of the heart to fail. Approximately 20% of children with HLHS have other birth defects or genetic syndromes. Children with HLHS are at increased risk for developing endocarditis and multiple other complications following their surgical procedures.

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

Diagnostic testing: A physical exam showing signs of heart failure (faster than normal heart rate, lethargy, liver enlargement, and rapid breathing) weak pulses at various locations (wrist, groin, and others); and abnormal heart sounds when listening to the chest.

Testing may include:

  • Cardiac catheterization;

  • Electrocardiogram (ECG);

  • Echocardiogram; and

  • Other imaging studies as appropriate.

Physical findings: Symptoms of HLHS may include:

  • Bluish (cyanosis) or poor skin color;

  • Cold hands and feet (extremities);

  • Lethargy;

  • Poor pulse;

  • Poor suckling and feeding;

  • Pounding heart;

  • Rapid breathing; and

  • Shortness of breath.        

ICD-9: 746.7

ICD-10: Q23.4

PROGRESSION

This congenital disease is fatal if not surgically treated during the first weeks of life. A newborn with this defect appears normal at birth. Symptoms usually occur in the first few hours of life and include bluish or pale skin color (cyanosis), cold hands and feet, lethargy, and poor feeding. Surgical intervention is generally a series of three staged surgical procedures. The child may need a heart transplant as time goes on. Congenital heart defects can be chronic conditions with health implications across the lifespan. Children with HLHS who survive into adulthood may require additional surgical intervention. Lifelong medical follow-up by a cardiologist will be required.

TREATMENT

Palliative surgical intervention is often in the first years of life in a series of three staged surgical procedures. The first surgical procedure called the Norwood operation is done within the first few days of life. A second surgical procedure called the Glenn shunt or hemi-Fontan procedure is often done when the child is 4 to 6 months of age. The final surgical stage, stage III, is called the Fontan procedure. It is performed when the child is 18 months to 3 years of age. Additional surgeries, including possible heart transplantation may be required in surviving children and adults.

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

  • Operative reports;

  • Cardiology consultation report; and

  • Imaging studies.

Suggested Listings for Evaluation:
DETERMINATION

LISTING

REMARKS
Meets 4.06
104.06
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 23022.575 Mitral Valve Atresia

COMPASSIONATE ALLOWANCE INFORMATION

MITRAL VALVE ATRESIA

ALTERNATE NAMES Mitral Atresia; MA

DESCRIPTION

Mitral Valve Atresia is a rare congenital heart defect in which the mitral valve of the heart does not develop correctly. The mitral valve normally consists of two leaflets and associated supporting structures. The job of the mitral valve is to allow passage of oxygenated blood from the left atrium to the left ventricle during the relaxation phase of the heart cycle and to keep blood from flowing back from the left ventricle to the left atrium during the contraction phase of the heart cycle. In mitral valve atresia, there is severe reduction or no flow of blood across the mitral valve. When atresia occurs, blood from the left atrium of the heart does not flow to the left ventricle, causing the left ventricle to become small and underdeveloped. Infants surviving into adulthood may develop problems with their heart functioning later in life due to worsening of the condition.

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

Diagnostic testing:

  • Chest x-ray;

  • Electrocardiogram;

  • Echocardiogram;

  • Cardiac catheterization; and

  • Cardiac magnetic resonance imaging (MRI).

Physical findings:

Infants with mitral valve atresia have the following signs:

  • Difficult or rapid breathing;

  • Shortness of breath;

  • Cool and clammy skin;

  • Blue tinted skin, lips, and nail beds (cyanosis); and

  • Difficulties feeding.   

ICD-9: 746.89

ICD-10: Q23.2

PROGRESSION

A diagnosis of mitral valve atresia is usually made shortly after birth. Disease progression is variable based on the severity of the congenital heart disease and the response to medication and surgical interventions.

TREATMENT

The treatment of mitral valve atresia is based on the severity of the condition. Infants are usually treated with staged surgical interventions and medications. Adults with congenital heart conditions should be monitored by a cardiologist to assess the need for medication and surgery and check for infection throughout their lifetime.

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

  • Operative reports;

  • Cardiology consultation reports; and

  • Electrocardiogram.

Suggested Listings for Evaluation:
DETERMINATION

LISTING

REMARKS
Meets

4.06

104.06

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 23022.745 Hepatoblastoma

COMPASSIONATE ALLOWANCE INFORMATION

HEPATOBLASTOMA

ALTERNATE NAMES

Pediatric Embryonal Hepatoma; Pediatric Hepatoblastoma; Liver Cancer – children; HB; HBL

DESCRIPTION

Hepatoblastoma (HB) is a type of liver tumor that usually affects children younger than 3 years. It is very rarely diagnosed in adolescence and is exceedingly rare in adults. If older children and adults have this disease, the prognosis tends to be worse than in younger children.

The cause of HB is generally unknown. Cirrhosis is not associated with this tumor. A common presentation in children is an asymptomatic abdominal mass.

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

Diagnostic testing : The diagnosis of HB is established by:

  • CBC count with differential;

  • Liver enzyme levels;

  • Abdominal radiography/ultrasonography;

  • CT scans/MRIs;

  • Radionuclide bone scans;

  • Positron emission tomography (PET) scans;

  • Biopsies; and

  • Pathology reports.

Physical findings:

  • Swollen abdomen (belly) with a large mass;

  • Pain in the belly;

  • Pallor (pale skin);

  • Fatigue;

  • Decreased appetite;

  • Weight loss; and

  • Vomiting.

Other symptoms may include:

  • Fever;

  • Back pain; and

  • Decreased urination.

ICD-9: 155.0

ICD-10: C22.2

PROGRESSION

Staging of HB is based on the degree of surgical resection, histologic evaluation, and presence of metastatic disease. The most common sites for metastasis or spread of tumor are the lungs and abdominal lymph nodes.

TREATMENT

Treatment options include chemotherapy, radiotherapy, surgery to remove the tumor, and liver transplantation. When the tumor is determined to be non-resectable and there are no metastases, liver transplantation is the treatment of choice.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

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

  • Pathology reports;

  • Imaging test results; and

  • Results of biopsies.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

13.19

Hepatoblastoma occurs primarily in children. Hepatoblastoma meets listing 13.19 upon confirmed diagnosis, regardless of the effectiveness of treatment.

113.03

Hepatoblastoma occurs primarily in children. Hepatoblastoma meets the criteria in listing 113.03 upon confirmed diagnosis, regardless of the 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 23022.750 Histiocytosis Syndromes

COMPASSIONATE ALLOWANCE INFORMATION

HISTIOCYTOSIS SYNDROMES

ALTERNATE NAMES

Langerhans Cell Histiocytosis; LCH; Histiocytosis X; Malignant Histiocytosis syndrome T-cell lymphoma; Non-Langerhans Cell Histiocytosis; Hemophagocytic Syndrome; Pulmonary Histiocytosis X; Nonlipid Reticuloendotheliosis; Pulmonary Langerhans Cell Granulomatosis; Hand-Schuller-Christian disease; Letterer-Siwe disease; Rosai-Dorfman disease; Sinus Histiocytosis with Massive Lymphadenopathy

DESCRIPTION

Histiocytosis is a general name for a group of syndromes where immune cells known as histiocytes (monocytes/macrophages) proliferate and mistakenly attack the body instead of infections. There are three major types of histiocytosis:

  • Class I - Langerhans cell histiocytosis (LCH; previously known as Histiocytosis X);

  • Class II - Hemophagocytic lymphohistiocytosis (HLH; non-Langerhans); and

  • Class III - T-cell Lymphoma, also known as malignant histiocytosis syndrome.

The excessive increase in the number of histiocytes may form inflammatory tumors in various body organs and bones, including the skull. For example, Langerhans cells infiltrating the lungs leads to inflammation and stiffening of the lungs. Tumors in weight-bearing bones, such as the legs or spine, may cause the bones to fracture without cause.

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

Diagnostic testing: Biopsy of skin or bone marrow documenting the presence of Langerhans or T-cell lymphoma.

Diagnosing HLH requires a set of defined criteria, including:

  • Hemophagocytosis on tissue biopsy;

  • Cytopenia;

  • Low fibrinogen levels;

  • Splenomegaly;

  • Fever; and

  • Rash.

The following testing supports the diagnosis and provides information on clinical severity:

  • Bone imaging studies;

  • Complete blood counts (CBC);

  • Bronchoscopy with biopsy;

  • Chest x-ray; and

  • Pulmonary function tests.

 

Physical findings: Symptoms and signs depend on specific organ involvement. In children, these may include:

  • Abdominal pain;

  • Rash;

  • Bone pain;

  • Delayed puberty;

  • Growth failure due to pituitary involvement;

  • Irritability;

  • Failure to thrive;

  • Mental deterioration;

  • Seizures;

  • Headache; and

  • Frequent urination due to diabetes insipidus.

Children over age 5 usually only have bone involvement.

Adults may experience:

  • Bone pain;

  • Cough and shortness of breath;

  • Fever;

  • Frequent urination;

  • Weight loss; and

  • Rash.

ICD-9: 202.5, 277.89

ICD-10: J84.82

PROGRESSION

LCH is relatively more common in children than in adults. The prognosis for children is highly variable, with infants and young children more likely to have systemic disease that leads to death. Adults with pulmonary histiocytosis X have a poor prognosis. In familial HLH, only 21-25% survives 5 years after diagnosis.

TREATMENT

These disorders are treated with corticosteroids, anti-cancer immunosuppressive drugs, radiation, and surgery, as well as supportive treatment.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

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

  • Biopsy of affected organ system; and

  • Functional assessment of organ system involved (for example, pulmonary function tests).

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

3.02

Listing level severity must be documented.

8.06

13.06 A

103.02

In children, solitary histiocytosis or eosinophilic granuloma treated with complete surgical excision does not meet listing level severity.

108.06

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 23022.755 Hutchinson-Gilford Progeria Syndrome

COMPASSIONATE ALLOWANCE INFORMATION

HUTCHINSON-GILFORD PROGERIA SYNDROME

ALTERNATE NAMES

HGPS; Hutchinson-Gilford Syndrome; Progeria Syndrome; Progeria of Childhood

DESCRIPTION

Hutchinson-Gilford Progeria Syndrome (HGPS) is a rare genetic condition that produces rapid aging in children. Affected children typically look normal at birth and in early infancy, but then grow more slowly than other children grow and do not gain weight at the expected rate (failure to thrive). Over time, they develop a characteristic facial appearance, hair loss, aged-looking skin, joint abnormalities, and a loss of fat under the skin. Severe hardening of the arteries (arteriosclerosis) occurs at a young age. This condition does not disrupt intellectual development or the development of motor skills such as sitting, standing, and walking. People with HGPS do not develop other disease processes associated with aging such as increased tumor formation, cataract development, or dementia.

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

Diagnostic testing : Genetic testing is for the LMNA gene mutation responsible for HGPS. Cardiac stress testing may show premature atherosclerosis of the coronary and other arteries.

Physical findings:

  • Characteristic facial features (prominent eyes, a thin nose with a beaked tip, thin lips, a small chin, protruding ears, delayed or abnormal formation of teeth);

  • Skin hardening and toughening;

  • Decreased subcutaneous fat;

  • Alopecia; and

  • Skeletal dysplasia with abnormalities in bone structure, skeletal strength, and decreased range of joint mobility.

ICD-9: 259.8

ICD-10: E34.8

PROGRESSION

Children with HGPS usually appear normal at birth with signs of the disease occurring at age 6 – 12 months, with skin changes, alopecia, and failure to thrive. Children usually live to their teenage years with some individuals surviving into their early 20s. Premature atherosclerosis greatly increases the chance of heart attack or stroke at a young age, which is the usual cause of death.

TREATMENT

There currently is no cure for HGPS. Treatment is directed towards the monitoring and management of the manifestations of the disorder.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Clinical history and examination documenting characteristic physical findings;

  • Genetic testing reports for LMNA mutation;

  • Imaging of the skeleton showing diffuse osteopenia/osteoporosis; and

  • MRI of the brain with evidence of cerebrovascular occlusive disease.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

104.02 A, B, or C

These cases may meet the criteria in listing 104.02 but probably not until the child is are more than 5 years old. Listing level severity must be documented.

105.08

These cases may meet the criteria in listing 105.08 but probably not until the child is more than 5 years old. 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 23022.760 Hydranencephaly

COMPASSIONATE ALLOWANCE INFORMATION

HYDRANENCEPHALY

ALTERNATE NAMES

Hydroanencephaly

DESCRIPTION

Hydranencephaly is a rare brain malformation in which the brain’s cerebral hemispheres do not develop, and are replaced by sacs filled with cerebrospinal fluid. Hydranencephaly is considered an extreme form of porencephaly (a disorder characterized by a cyst or cavity in the cerebral hemispheres), and may be caused by intrauterine strokes or infections, or maternal trauma. Hydranencephaly should not be confused with hydrocephalus, which is an increased accumulation of cerebrospinal fluid within the ventricles.

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

Diagnostic testing: The diagnosis is established by imaging such as MRI, CT, after ruling out conditions that are amenable to treatment. Preliminary diagnosis can be made in utero by ultrasound, but must be confirmed after birth.

Physical findings: Infants with hydrancephaly appear normal at birth, but within a few weeks, they may show:

  • Irritability;

  • Abnormal breathing patterns; and

  • Increased muscle tone.

Other features developing over time may include:

  • Seizures;

  • Abnormal head growth;

  • Deafness;

  • Blindness;

  • Spastic quadriparesis (paralysis); and

  • Cognitive deficits.

ICD-9: 742.3

ICD-10: Q04.3
PROGRESSION

Hydranencephaly develops after the 12th week of pregnancy. The prognosis is generally poor, and many children die before the age of 1 year.

TREATMENT

There is no definitive treatment for hydraencephaly. Treatment is symptom-specific and supportive.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

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

  • Cranial MRI or CT scan; and

  • Developmental assessment.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

110.08 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 23022.765 Hypocomplementemic Urticarial Vasculitis Syndrome

COMPASSIONATE ALLOWANCE INFORMATION

HYPOCOMPLEMENTEMIC URTICARIAL VASCULITIS SYNDROME

ALTERNATE NAMES

Hypocomplementemic Vasculitis; Urticarial Vasculitis; McDuffie Syndrome

DESCRIPTION

Hypocomplementemic Urticarial Vasculitis Syndrome (HUVS) is a rare type of chronic autoimmune inflammation of small blood vessels and abnormally low levels of complement. HUVS is often associated with systemic diseases such as COPD, systemic lupus, and Sjögren syndrome.

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

Diagnostic testing: Laboratory tests of serum documenting complement deficiency and positive C1q antibody, and skin or organ biopsy documenting leukocytoclastic vasculitis (LCV), also known as hypersensitivity vasculitis. The clinical criteria for diagnosis of HUVS include characteristic chronic urticaria with residual hyperpigmentation, and inflammatory vasculitis with angioedema, glomerulonephritis, chronic obstructive pulmonary disease, arthritis, or uveitis.

Physical findings: HUVS usually involves the skin with painful urticaria (hives), and may cause inflammatory changes in joints, kidneys, gastrointestinal tract, lungs, heart, and eyes.

ICD-9: 279.4

ICD-10: M35.9

PROGRESSION

The prognosis of HUVS depends on the organ system involved. Lung disease results in significant morbidity and mortality, and is made worse by smoking. Kidney involvement with glomerulonephritis may ultimately result in end stage renal disease with need for kidney transplant. Death may also occur due to acute laryngeal edema.

TREATMENT

The treatment of HUVS is determined by the organ involved and severity of the disease, and may include combinations of antihistamines, glucocorticoids and other immunosuppressive medications. COPD and cardiac valvular defects may require specific treatment.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Claimant’s medical source(s) records of clinical history and physical findings;

  • Skin and/or tissue biopsy report;

  • Laboratory reports showing abnormal complement levels and C1q antibody; or

  • Evidence of organ dysfunction, especially eye, renal, cardiac, and respiratory systems (for example, pulmonary function tests).

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

14.02

 

114.02

Equals

3.02 A

* 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 23022.770 Hypophosphatasia--Perinatal (Lethal) and Infantile Onset Types

COMPASSIONATE ALLOWANCE INFORMATION

HYPOPHOSPHATASIA--PERINATAL (LETHAL) and INFANTILE ONSET TYPES

ALTERNATE NAMES

Alkaline Phosphotase Deficiency; Perinatal Lethal Hypophosphatasia; Hypophosphatasia Perinatal Lethal Form; Perinatal Rathburn Disease; Phosphoethanolaminuria; Hypophosphatasia Lethal Form; Hypophosphatasia Infantile Onset; Rathburn's Disease

DESCRIPTION

Hypophosphatasia is a rare, inherited metabolic disorder that affects the development of bones and teeth. There are several forms of this disorder, with the perinatal (lethal) and infantile onset types being the most severe.

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

Diagnostic testing: Diagnostic testing consisting of subnormally low activity of tissue non-specific alkaline phosphatase (TNALP) enzyme in serum; bone imaging of the bones shows severe demineralization, especially in the metaphyses (the wider part at the extremity of the shaft of a long bone).

Physical findings:

  • A near absence of skeletal mineralization;

  • Fractures;

  • Skin-covered spurs of the knees and elbow;

  • Large fontanels (space between the bones of the skull);

  • Shortened bones;

  • Chest deformities;

  • Muscle weakness;

  • Hypercalcemia (higher than normal level of calcium in your blood); and

  • Multiple congenital abnormalities, leading to respiratory failure.

ICD-9: 275.3

ICD-10: E83.3

PROGRESSION

For perinatal (lethal) onset hypophosphatasia, death occurs either in-utero or within the first months of life. Infantile onset hypophosphatasia presents within the first year of life, and has 50% mortality. The cause of death is usually due to respiratory failure. Perinatal (benign) hypophosphatasia type is characterized by prenatal skeletal manifestations that slowly resolve into the milder childhood and adult onset hypophosphatasia types, which have variable clinical courses.

TREATMENT

Currently there is no cure or definitive treatment for this disorder.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

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

  • Laboratory testing for identified enzyme changes; or

  • Imaging documenting decreases in bone mineralization.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

110.08 A

Evaluate the perinatal (lethal) onset type of hypophospatasia, under listing 110.08 A.

110.08 B

Evaluate perinatal (benign), child, and adult onset hypophosphatasia types on a case-by-case basis.

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 23022.775 I Cell Disease

COMPASSIONATE ALLOWANCE INFORMATION

I CELL DISEASE

ALTERNATE NAMES

Mucolipidosis Type II; MLType II; Inclusion Cell disease; Mucolipidosis II Alpha/Beta; ML II; Mucolipidosis 2; ML 2; GNPTA; Leroy Disease; N-acetylglucosamine 1 phosphotransferase deficiency; ML disorder type 2; I Cell Syndrome; Inclusion Cell Syndrome; Inclusion Cell Disease

DESCRIPTION

I Cell Disease is a rare genetic disorder in which the body lacks a critical metabolic enzyme to break down long chains of sugar molecules.

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

Diagnostic testing:

  • Genetic tests for mutations in the IDUA gene;

  • Testing for the GNPTAB gene;

  • Testing for the GNPTA gene that leads to a deficiency in the enzyme UDP-N- acetylglucosamine 1 phosphotransferase; and

  • Elevated serum levels of lysosomal enzymes.

Physical findings:

  • Psychomotor deterioration;

  • Short stature;

  • Characteristic coarse facial features with bulging eyes, low nasal bridge, and overgrown gums (gingival hyperplasia);

  • Corneal clouding;

  • Organomegaly (enlarged organs);

  • Growth failure;

  • Thickened skin with distinct facial features;

  • Generalized hypotonia (low muscle tone);

  • Contractures in all large joints;

  • Thoracic chest wall deformity;

  • Kyphosis (excessive outward curve of spine);

  • Clubbed feet;

  • Deformed long bones;

  • Dislocation of the hips;

  • Thickening and insufficiency of the mitral and aortic valves; and

  • Progressive mucosal thickening narrows the airways and stiffening of the thoracic cage resulting in respiratory insufficiency.

ICD-9: 272.7

ICD-10: E77.0

PROGRESSION

Developmental delay and growth failure are the first signs of I Cell Disease, and present in the first year of life. As the child develops, difficulties with motor coordination are evident and manifests with rapid and progressive deterioration. Heart disease and complications of pneumonia are the major causes of death.

TREATMENT

There is no current cure for I Cell Disease. Treatment is supportive. Bone marrow transplantation may be used to delay or correct neurological deterioration. Intravenous treatment with pamidronate may prevent break down of bone tissue, decrease bone pain, and increase mobility.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

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

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

  • Evidence of neurodevelopmental delay.

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 23022.780 Infantile Free Sialic Acid Storage Disease

COMPASSIONATE ALLOWANCE INFORMATION

INFANTILE FREE SIALIC ACID STORAGE DISEASE

ALTERNATE NAMES

ISSD; Sialuria Infantile Form; Infantile Sialic Acid Storage Disorder; Free Sialic Acid Storage Disease; N-acetylneuraminic acid storage disease; NANA Storage Disease; Sialuria Finnish Type

DESCRIPTION

Infantile Free Sialic Storage Disease (ISSD) is the most severe form of sialic acid storage disease, a rare inherited metabolic disorder. Affected children lack the ability to transport sialic acid out of the cell, leading to abnormal accumulations that primarily affect the nervous system. Affected infants have severe developmental delay, hypotonia, and failure to gain weight and grow at the expected rate (failure to thrive). They may have unusual facial features that are often described as "coarse", bone malformations, hepatosplenomegaly, and cardiomegaly. The abdomen may be swollen due to enlarged internal organs and ascites. Affected infants may also have hydrops fetalis at birth. Seizures are common.

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

Diagnostic testing :

  • Genetic testing for mutations in the SLC17A5 gene;

  • Lab testing shows elevated sialic acid levels in cultured tissue cells; and

  • Increased free sialic acid in the urine

Physical findings: Signs and symptoms of ISSD include:

  • Hydrops fetalis;

  • Failure to thrive;

  • Increasing coarse facial features;

  • Neurologic deterioration;

  • Dysostosis (abnormal bone formation);

  • Ataxia and hypotonia at approximately age one year;

  • Developmental delay and growth delay in early childhood; and

  • Severe cognitive and motor impairment.

ICD-9: 271.9

ICD-10: E74.9

PROGRESSION

Onset of this disorder is at or even before birth. Children usually live only into early childhood.

TREATMENT

There is no current cure for this disorder. Treatment is supportive and may include physical, occupational and speech therapies; nutrition therapy; and anti-seizure treatment.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

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

  • Laboratory testing for identified enzyme changes and elevated free sialic acid in cultured cells and the urine

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 23022.800 Lymphomatoid Granulomatosis -- Grade III

 

COMPASSIONATE ALLOWANCE INFORMATION

LYMPHOMATOID GRANULOMATOSIS - GRADE III

ALTERNATE NAMES

Lymphomatoid Granulomatosis High Grade; Polymorphic Reticulosis; Lymph Angiitis and Granulomatosis; Malignant Lymph Angiitis and Granulomatosis; Pulmonary Angiitis; Lymphoproliferative Disease; LG High Grade; LG

DESCRIPTION

Lymphomatoid Granulomatosis (LG) is a rare, progressive malignant neoplastic disease in adults and children (although it is most common in people in the fifth and sixth decade), where nodular lesions destroy blood vessels. In addition, the lungs are usually affected. LG is composed of B-cells positive for Epstein Barr Virus and mixed with reactive T-cells. It often occurs in association with an underlying immunodeficiency state such as rheumatoid arthritis, organ transplantation, and human immune deficiency virus (HIV) infection. A grading system from Grade I to Grade III for LG is based on the number of atypical lymphocytes, EBV-positive B-cells and amount of tissue destruction (necrosis). The advanced form (grade III) of LG is approached clinically as a subtype of diffuse large B-cell non-Hodgkin lymphoma (NHL). The clinical features reflect systemic multi-organ disease with lung, skin, and central nervous system involvement.

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

Diagnostic testing: Pathologic examination of tissue biopsy confirms the diagnosis. Imaging includes bone and chest X-rays, lymphangiography, CT scan, and MRI.

Physical findings: Pulmonary findings may include:

  • Cough;

  • Shortness of breath; and

  • Chest pain.

Skin findings may include:

  • Small red bumps;

  • Lumps under the skin;

  • Ulcers;

  • Thickened patches; or

  • Inflamed hair follicles.

Skin lesions usually do not cause symptoms but they can be tender or itchy.

Neurological findings may include:

  • Cranial and peripheral nerve defects resulting in unsteadiness, blurred vision, weakness or numbness affecting facial muscles or hands and feet;

  • Seizures;

  • Altered cognition;

  • Focal motor and sensory complaints; and

  • Stroke syndromes.

ICD-9: 202.8

ICD-10: C86.0

PROGRESSION

Grade III LG is usually progressive and fatal.

TREATMENT

There is no standard treatment for grade III LG, although surgery and chemotherapy may improve pain relief and neurological symptoms. Median survival is about 14 months; five-year survival is less than about 30%.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

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

  • Results of imaging tests;

  • Biopsy results;

  • Surgical procedure notes; and

  • Pathology reports.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

13.05 A

Grade III LG meets the criteria in listing 13.05 A upon confirmed diagnosis and without regard to effectiveness of treatment.

113.03

Grade III LG meets the criteria in listing 113.03 upon confirmed diagnosis and without regard to effectiveness of treatment.

113.05 A

Grade III LG meets the criteria in listing 113.05 A upon confirmed diagnosis and without regard to effectiveness of treatment.

Equals

13.13 A 1

Medically equals the criteria in listing 13.13 A 1 if grade III LG affects only the central nervous system.

113.13

Medically equals the criteria in listing 113.13 if grade III LG affects only the central nervous system.

* 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 23022.805 Malignant Brainstem Gliomas -- Childhood

 

COMPASSIONATE ALLOWANCE INFORMATION

MALIGNANT BRAINSTEM GLIOMAS -- CHILDHOOD

ALTERNATE NAMES

Childhood Malignant Brainstem Glioma; Malignant Brainstem Glioma- Childhood Diffuse Intrinsic; Malignant Brainstem Glioma; Diffuse Intrinsic Pontine Gliomas; DIPG; Malignant Brain Tumor; Pediatric Malignant Brain Tumor; Malignant Brain Tumor – Children

DESCRIPTION

Malignant Brainstem Gliomas are a common type of brain tumor that occurs in the region of the brain referred to as the brainstem. Approximately 80% of malignant pediatric brainstem gliomas arise within the pons. The majority of pontine tumors, diffuse intrinsic pontine gliomas (DIPG), are usually high-grade, aggressive, locally infiltrative, and have a uniformly poor prognosis. Diffuse intrinsic pontine gliomas meet the criteria in the listings upon confirmed diagnosis alone.

Brainstem gliomas are classified into four grades. Grades I and II are considered low grade; grades III and IV are considered high grade. Grades I and II are the slowest growing and least aggressive. In children, Grade II brain stem tumors meet the criteria in listing 113.13 C 2 if they are progressive or recurrent following initial anticancer therapy. Grade I tumors are generally considered benign, and we evaluate them under the neurological listing 111.05. Grade III and Grade IV childhood brain stem tumors are the fastest growing and most aggressive and meet the criteria in listings 113.13 A and B.

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

Diagnostic testing: MRI scans are the preferred tool to evaluate a brainstem tumor, although a CT scan may be performed in the rare circumstances where MRI is unavailable. A biopsy is seldom performed outside specialized biomedical research protocols for DIPG, unless the diagnosis of this tumor is in doubt.

Tumors also are characterized on the basis of:

  • Site of origin;

  • Direction and extent of tumor growth;

  • Degree of brainstem enlargement;

  • Presence or absence of cysts;

  • Necrosis;

  • Hemorrhage; and

  • Hydrocephalus.

Physical findings: Although not pathognomonic of DIPG, signs and symptoms are related to location of the tumor and may include:

  • Cranial nerve deficits;

  • 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; and

  • Headaches.

ICD-9: 191.7

ICD-10: C71.7

PROGRESSION

The average age at diagnosis is 5 to 9 years of age. DIPG has a high rate of recurrence or progression. DIPG often follows an inexorable course of progression, despite therapy. A large majority of children die within a year of diagnosis.

TREATMENT

Standard anticancer therapy for brainstem glioma has not been established. Surgery is not usually performed because of the tumor’s infiltrating location in the brainstem; however, surgical procedure to reduce pressure inside the skull caused by hydrocephalus is common. Surgery may be performed if the tumor extends into the fourth ventricle.

Radiation is used to shrink the tumor, improve, stabilize or prolong life. New therapies have yielded little benefit over conventional treatment with radiotherapy alone. Unfortunately, recurrence usually occurs after 6 to 9 months of treatment.

Adjuvant chemotherapy is generally not used in children because efficacy has not been proven. Data suggest that pre-radiation chemotherapy may improve survival in diffuse intrinsic pontine gliomas. The effectiveness of chemotherapy at relapse is uncertain, but it may benefit some patients.

Individuals who have difficulty swallowing or diminished gag reflex may require gastrostomy tube placement. Individuals with frequent upper respiratory infections, pneumonia, or altered voice may require post-op ventilator assistance.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

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

  • Imaging tests;

  • Pathology reports;

  • Surgical reports;

  • Pertinent treatment records; and

  • Up-to-date progress notes.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

113.13 A and B

Malignant brainstem gliomas occur more frequently in children. Grade III and Grade IV brainstem cancers in children, such as diffuse intrinsic pontine gliomas,; meet the criteria in listing 113.13 upon confirmed diagnosis alone.

113.13 C 2

Malignant brainstem gliomas occur more frequently in children. Grade III and Grade IV brainstem cancers in children, such as diffuse intrinsic pontine gliomas,; meet the criteria in listing 113.13 upon 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 23022.815 Mastocytosis Type IV

COMPASSIONATE ALLOWANCE INFORMATION

MASTOCYTOSIS TYPE IV

ALTERNATE NAMES

Leukemic Mastocytosis; Mast Cell Leukemia; MCL; Lymphadenopathic Mastocytosis; Mast Cell Sarcoma

DESCRIPTION

Mastocytosis is a rare neoplastic disorder that occurs when there is an abnormal accumulation (excess) of mast cells in the blood and bone marrow, skin, gastrointestinal tract (GI), liver and spleen. Mastocytosis can be cutaneous (skin) or systemic (involving the internal organs of the body). Depending on the number of mast cells in the different organ parts, it is classified as either indolent (slow growing) or aggressive.

People with Mastocytosis Type IV have mast cell leukemia. Type IV is the most severe form of mastocytosis marked by malignant proliferation of mast cells in the blood, no skin involvement, multi-organ failure, and a short survival. Type IV is generally defined as having at least 10% abnormal mast cells in the peripheral blood or at least 20% abnormal mast cells in the bone marrow.

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

Diagnostic testing : Diagnostic testing for Mastocytosis Type IV includes:

  • Skin exam;

  • Bone marrow biopsy;

  • Plasma tryptase; and

  • Urine mediators such as histamine.

Imaging testing can include skeletal survey and gastrointestinal evaluation. Bone scans and bone marrow testing are conclusive.

Physical findings: Signs and symptoms of this condition include:

  • Anemia and bleeding disorders;

  • Gastrointestinal symptoms such as abdominal pain, diarrhea, nausea, or vomiting;

  • Itching, hives, or flushing of the skin;

  • Anaphylactoid reactions;

  • Enlarged liver (hepatomegaly);

  • Enlarged spleen (splenomegaly); and

  • Enlarged lymph nodes (lymphadenopathy).

ICD-9: 202.6

ICD-10: C96.2

PROGRESSION

The median age at diagnosis of the severe form of mastocytosis in adults is 55 years of age. Type IV has also occurred in children as young as 4 years old. The prognosis for people with type IV mastocytosis is poor with survival time of a few months once the diagnosis is established.

TREATMENT

There is no current cure or standard treatment for mastocytosis type IV. Severe forms of mastocytosis have been treated with chemotherapy, immunotherapy, stem cell or bone marrow transplantation.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • A thorough history of illness;

  • Oncology, hematology, dermatology, and immunology consultation reports;

  • Pathology reports; and

  • Imaging study reports.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

13.06 A

Mastocytosis Type IV meets the criteria in listing 13.06 A upon confirmed diagnosis, regardless of effectiveness of treatment.

113.06 A

Mastocytosis Type IV meets the criteria in listing 113.06 A 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 23022.820 Medulloblastoma

COMPASSIONATE ALLOWANCE INFORMATION

MEDULLOBLASTOMA

ALTERNATE NAMES

DESCRIPTION

Medulloblastoma is a rare type of malignant brain cancer that occurs in the cerebellum and adjacent tissue (which control body movement and coordination). Medulloblastomas are primarily a type of childhood brain cancer, and rarely occur in adults.

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

Diagnostic testing : The diagnosis of a medulloblastoma is made by:

  • Imaging tests including MRI of the brain and spine; CT, PET scan, and radionuclide bone scans;

  • A spinal tap may be performed to obtain cerebral spinal fluid to search for cancer cells or tumor markers; and

  • Analysis of the tumor after surgical resection confirms the diagnosis of medulloblastoma.

Physical findings: Individuals with a medulloblastoma may present with:

  • Headaches which are often worse in the morning and get better during the day;

  • Nausea or vomiting in the morning;

  • Problems with motor skills, such as clumsiness or poor handwriting;

  • Tiredness/Fatigue;

  • Tilting the head to one side;

  • Double vision (diplopia);

  • Rapid, jerky eye movements (nystagmus);

  • Facial weakness;

  • Ringing in the ears (tinnitus);

  • Hearing loss;

  • Stiff neck;

  • Back pain; and

  • Inability to control bladder and bowel functions.

ICD-9: 191.6

ICD-10: C71.6

PROGRESSION

Prognosis is poor for medulloblastoma.

TREATMENT

Surgery alone does not cure this type of cancer. Chemotherapy and radiation are often used in combination with surgery.

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;

  • If a pathology report is unavailable, a surgical report or all radiological studies (for example, MRI and CT scans) and treatment notes indicating antineoplastic therapy for metastases may be substituted; and

  • If available, spinal tap results.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

13.13 A 2

Medulloblastoma meets the criteria in listing 13.13 A 2 upon confirmed diagnosis, regardless of the effectiveness of treatment.

113.13 B

Medulloblastoma meets the criteria in listing 113.13 B upon confirmed diagnosis, regardless of the 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 23022.825 Merkel Cell Carcinoma – with metastases

COMPASSIONATE ALLOWANCE INFORMATION

MERKEL CELL CARCINOMA

ALTERNATE NAMES

Merkel Cell Cancer; Trabecular Cancer; Apudoma of Skin; Small Cell Neuroepithelial Tumor of Skin; Primary Small Cell Carcinoma of Skin; Toker Tumor; Primary Cutaneous Neuroendocrine Tumor; Malignant Trichodiscoma; Neuroendocrine Carcinoma of the Skin

DESCRIPTION

Merkel Cell Carcinoma (MCC) is a rare, aggressive skin cancer that forms in the outer layer of the skin (epidermis). MCC often appears in areas of the skin exposed to the sun, such as the head and neck, arms, legs, and trunk. However, MCC may also develop anywhere on the body, even on areas not exposed to sunlight. MCC with Metastases occurs when the tumor spreads to other parts of the body. MCC that has metastasized has a significantly higher mortality than malignant melanoma of the skin.

The incidence of MCC is somewhat greater for males. It is most common in people older than age 50, although it can occur at any age.

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

Diagnostic testing : Diagnosis is made with a sentinel lymph node biopsy and immunohistochemical stains. Blood tests, such as liver function tests, may be used to detect the spread of MCC to internal organs. MCC is difficult to diagnose through imaging studies in its early stages.

Physical findings : The first sign of MCC is usually a fast-growing, painless nodule (tumor) on the skin. The shiny nodule may be skin colored or may appear in shades of red, blue or purple that initially may be mistaken as a benign cyst. Most MCCs appear on the face, head or neck, but they can develop anywhere on the body, even on areas not exposed to sunlight.

Physical exam may reveal the following findings:

  • A new skin lesion;

  • An enlarged lymph node; and

  • An enlarged liver.

ICD-9: 209.31 – 209.36, 209.75

ICD-10: C4A

PROGRESSION

MCC metastasizes quickly and spreads to other parts of the body, tending towards the regional lymph nodes. The tumor tends to invade underlying subcutaneous fat, fascia, and muscle. MCC has an extremely poor prognosis after it has spread to distant sites, especially the organs (such as, liver, lung, bone, or brain). For people with positive lymph nodes, median survival is 13 months compared to 40 months in those people with negative nodes.

TREATMENT

Treatment for MCC is based on the stage and location of the lesion, and whether the tumor has spread to the lymph nodes or other parts of the body. Treatment may consist of: 1) surgical excision of the primary lesion, 2) lymph node surgery, 3) radiation therapy, and 4) chemotherapy. Chemotherapy is usually reserved for late stage MCC, and mostly as a palliative therapy.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • A biopsy confirming the diagnosis of MCC.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

13.03 A

MCC with metastases to or beyond the regional lymph nodes meets the criteria in listing 13.03 A.

13.03 B

MCC that invades deep extradermal structures meets the criteria in listing 13.03B.

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 23022.835 Nephrogenic Systemic Fibrosis

COMPASSIONATE ALLOWANCE INFORMATION

NEPHROGENIC SYSTEMIC FIBROSIS

ALTERNATE NAMES

Nephrogenic Fibrosing Dermopathy; NSD; NSF

DESCRIPTION

Nephrogenic Systemic Fibrosis (NSF) is a rare disease involving severe thickening and hardening of the skin (fibrosis) overlying the extremities and trunk. The cause of nephrogenic systemic fibrosis is attributed to the connexation of renal insufficiency and gadolinium exposure from imaging studies. The exact degree of renal insufficiency that sets up the development of nephrogenic systemic fibrosis is not known. Risk factors include advanced chronic kidney disease (stages 3, 4 and 5) and acute or chronic inflammatory insults.

Symptoms of NSF include painful, burning itching skin, red/dark areas on the skin, skin thickening, edema, loss of flexibility and severe limitations in movement at the joints of the ankles, knees, feet, arms, wrists, and hands, and raised yellow discoloration on sclera. Fibrosis (thickening) involving the internal organs, including the lungs (with reduced diffusing capacity for carbon monoxide) and diaphragm (with respiratory failure), myocardium, pericardium and pleura has been reported. NSF affects males and females in approximately equal numbers. NSF may occur in children but most commonly affects the middle-aged.

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

Diagnostic testing : Diagnostic testing may include positive antinuclear antibody tests and the presence of hepatitis B or C. All people affected with NSF have a history of renal insufficiency of varying severity and duration and gadolinium exposure. A small number of individuals have primarily liver disease. Most individuals have had treatments that include hemodialysis, peritoneal dialysis or renal transplantation. However, neither dialysis nor renal transplantation is a prerequisite for NSF. Histological findings may include thickened collagen bundles with surrounding clefts, early lesions and spindle cells.

Physical findings: Symptoms of NSF include:

  • Painful, burning itching skin;

  • Red/dark areas on the skin;

  • Skin fibrosis (scarring/thickening);

  • Edema;

  • Loss of flexibility and severe limitations in movement at the joints of the ankles, knees, feet, arms, wrists, and hands;

  • Raised yellow discoloration on sclera; and

  • Fibrosis involving the internal organs, including the lungs (with reduced diffusing capacity for carbon monoxide) and diaphragm (with respiratory failure), myocardium, pericardium and pleura.

ICD-9: 701.8

ICD-10: L90.8

PROGRESSION

NSF is a debilitating and sometimes fatal disease. People with a fulminant (disease developing or progressing suddenly) form of NSF may become wheelchair dependent within weeks due to development of flexion contractures and loss of mobility. Death may result from complications of kidney disease or transplant surgery. In addition, fractures and falls from wheelchair dependency may be fatal.

TREATMENT

NSF is usually a chronic progressive condition. Rare cases of partial to complete spontaneous resolution have been reported in the absence of specific therapy, with the return of renal function. A favorable response to medical intervention is anecdotal. Of all treatments, extracorporeal photopheresis (ECP) seems to provide the best, albeit mild and extremely expensive treatment modality for nephrogenic systemic fibrosis.

Steroids and massage therapies may be used to decrease the discomfort associated with skin thickening and connective tissue formation.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Clinical information documenting chronic kidney disease;

  • Clinical examination including description of fibrotic changes and description of functional limitations; and

  • Laboratory studies documenting serum creatinine in the blood.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

6.03

Use 6.03 when the claimant is on dialysis.

106.03

Use 106.03 when the claimant is on dialysis.

106.05

Use 106.05 when the lab findings are at the required level.

Equals

1.02 A or B

Consider respiratory or cardiovascular listings, as appropriate, when the fibrosis affects the lungs or heart.

6.05

14.04

* 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 23022.840 Obliterative Bronchiolitis

 

COMPASSIONATE ALLOWANCE INFORMATION

OBLITERATIVE BRONCHIOLITIS

ALTERNATE NAMES

Bronchiolitis Obliterans; Constrictive Bronchiolitis

DESCRIPTION

Obliterative Bronchiolitis (OB) is a rare, irreversible, life-threatening form of lung disease that occurs when the small airway branches of the lungs (bronchioles) are compressed and narrowed by scar tissue (fibrosis) and inflammation. Extensive scarring results in decreased lung function. Causes of OB include collagen vascular diseases, especially rheumatoid arthritis, organ transplant rejection, viral infections, drug reactions, prematurity complications, , oral emergency medicines (for example, activated charcoal), exposure to toxic fumes (for example, diacetyl, sulfur dioxide, ammonia, chlorine, mustard gas, ozone), and idiopathic (no known cause). Symptoms of OB include coughing (usually without phlegm), shortness of breath on exertion, wheezing and fatigue,

OB is not the same disorder as bronchiolitis obliterans organizing pneumonia (BOOP), now known as cryptogenic organizing pneumonia (COP), which is a treatable disorder with a favorable prognosis. OB is also a distinctly different disorder than pediatric bronchiolitis, which is a very common childhood respiratory illness with a good prognosis.

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

Diagnostic testing: Although a definitive diagnosis of OB requires can only made by a lung biopsy, other diagnostic tests which aid in the diagnosis include:

  • Lung volume measurements showing an elevated residual volume and chest x-ray with evidence of hyperinflation;

  • High resolution computerized tomography (CT) of the chest at full inspiration and expiration showing evidence of heterogeneous air trapping, mosaic attenuation, bronchial wall thickening, cylindrical bronchiectasis, or scattered ground glass opacities; and

  • Spirometry which typically shows airway obstruction that is generally unresponsive to bronchodilators. A restrictive pattern may be seen in some cases.

Physical findings:

  • Dry cough;

  • Shortness of breath; and

  • Fatigue and wheezing in the absence of a cold or asthma.

ICD-9: 491.8

ICD-10: J44.9

PROGRESSION

The progression of OB varies from person to person with symptoms starting either gradually or suddenly. Two to eight weeks after a respiratory illness or exposure to toxic fumes, dry cough, shortness of breath (especially on exertion), fatigue, and wheezing may occur. Severe cases may require a lung transplant. Post-lung transplantation, OB continues to be a major life-threatening complication, affecting up to 50% of people who survive five years after transplantation.

TREATMENT

There is currently no cure for OB. Bronchodilators, inhaled corticosteroids, oxygen supplementation, and, in the case of lung transplantation, immunosuppressants, are prescribed to control symptoms. Response to treatment is generally poor.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Clinical history and examination that describes diagnostic features and physical findings;

  • Biopsy reports;

  • CT scans;

  • Pulmonary function tests ( PFTs) including diffusing capacity of the lungs for carbon monoxide (DLCO) tests, spirometry, and arterial blood gas (ABG) tests; and

  • Response, if any, to a regimen of treatment.

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.

103.02

A description of findings establishing the diagnosis and response to treatment is needed when evaluating this condition.

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 23022.955 Hepatopulmonary Syndrome

COMPASSIONATE ALLOWANCE INFORMATION

HEPATOPULMONARY SYNDROME

ALTERNATE NAMES

Hepatopulmonary Syndrome Type I/II; Hepato Pulmonary Syndrome

DESCRIPTION

Hepatopulmonary syndrome (HPS) is a severe condition involving shortness of breath and hypoxemia in people with chronic liver disease that has advanced to the point that it affects their lungs. People with this disorder have low arterial blood oxygen levels (hypoxemia) caused by expansion (dilation) of the blood vessels in the lungs. The expanded blood vessels make it difficult for the lungs to deliver an adequate supply of oxygen to the body. HPS affects both liver and pulmonary (lung) functioning.

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

Diagnostic testing : The following tests are helpful in establishing the diagnosis of HPS:

  • Contrast enhanced echocardiogram with evidence of intrapulmonary vascular dilation provides a definitive diagnosis of HPS;

  • Arterial blood gas analysis;

  • Chest x-rays;

  • Computed tomography (CT) scans; and

  • Transthoracic echocardiography (TTE) .

Physical findings:

The signs of impaired liver functioning may include:

  • Gastrointestinal bleeding;

  • Esophageal varices;

  • Ascites;

  • Palmar erythema;

  • Spider nevi; and

  • Enlarged spleen (splenomegaly).

The signs of pulmonary involvement may include:

  • Digital clubbing (the appearance of changes in the areas under and around the toenails and fingernails);

  • Cyanosis (a condition in which the lips, fingers, and toes appear blue);

  • Dyspnea (shortness of breath);

  • Platypnea (shortness of breath that is relieved when lying down and worsens when standing or sitting); and

  • Orthodeoxia (fall in arterial blood oxygen while in the upright position).

ICD-9: 573.5, 573.8

ICD-10: K76.81

PROGRESSION

HPS worsens the prognosis of individuals with cirrhosis and other liver diseases. Individuals who are not candidates for liver transplantation have a median survival of 2 years. Mortality is usually associated with complications of hepatic disease.

TREATMENT

Liver transplantation is the only definitive treatment for HPS. Alternative treatments are supportive and symptomatic. Supplemental oxygen or somatostatin inhibits vasodilation (dilation of the blood vessels).

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

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

  • Pulmonary function tests including diffusing capacity (DLCO), spirometry, and arterial blood gas studies (ABGs); and

  • Documentation of intrapulmonary arteriovenous shunting by contrast-enhanced echocardiography or macroaggregated albumin lung perfusion scan.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

5.05 E

Listing level severity must be documented.

105.05 E

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 23022.957 Hepatorenal Syndrome

COMPASSIONATE ALLOWANCE INFORMATION

HEPATORENAL SYNDROME

ALTERNATE NAMES

Hepatorenal Syndrome Type I/II; Hepato Renal Syndrome

DESCRIPTION

Hepatorenal Syndrome (HRS) is a condition in which there is progressive kidney failure in a person with cirrhosis of the liver, along with portal hypertension and ascites. It is a serious and often life-threatening complication of cirrhosis. HRS occurs when there is a decrease in kidney function in a person with a severe liver disorder. It occurs when there is a decrease in the amount of urine that is removed from the body due to severe liver dysfunction resulting in an increase of nitrogen-containing waste products in the bloodstream (azotemia).

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

Diagnostic testing: HRS is diagnosed when other causes of kidney failure are clinically ruled out.

Laboratory studies may include:

  • BUN and serum creatinine levels;

  • Urinalysis showing increased urine specific gravity; and

  • Tests for low serum sodium and very low urine sodium concentration.

Liver tests will show increased prothrombin time, low serum albumin, and sometimes increased serum ammonia levels.

Imaging studies may include abdominal ultrasound. Signs of hepatic encephalopathy may also be present.

Physical findings: Symptoms of HRS may include:

  • Orthostatic hypotension (a fall in blood pressure occurring when a person sits up or stands up suddenly);

  • Edema;

  • Change in mental status;

  • Muscle spasms/jerks;

  • Dark-colored urine;

  • Decreased urine production (oliguria);

  • Nausea/vomiting;

  • Unexplained weight gain; and

  • Yellow skin (jaundice).

The clinical examination will also show signs of chronic liver failure.

ICD-9: 572.4

ICD-10: K76.7

PROGRESSION

A diagnosis of HRS occurs in up to 1 in 10 people who are in the hospital due to liver failure and is diagnosed when other causes of kidney failure are ruled out. Complications of HRS may include bleeding, damage to and failure of multi-organ systems, end stage kidney disease, fluid overload with congestive heart failure or pulmonary edema, hepatic coma and secondary infections. The prognosis for people with HRS is poor. Mortality is usually associated with secondary infection or severe bleeding (hemorrhage).

TREATMENT

Liver transplantation is the only definitive treatment for HRS. Alternative treatments are supportive and symptomatic. Dialysis, nonsurgical shunt (TIPS) and surgical shunts (Levine) relieve the symptoms of kidney failure.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

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

  • Medical records showing functional renal failure in the absence of underlying kidney pathology; and

  • Laboratory studies documenting serum creatinine elevation of at least 2 mg/dL; or oliguria with 24-hour urine output < 500 mL; or sodium retention with urine sodium < 10 mEq per liter.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

5.05 D

The criteria in listing 5.05 D are met with documentation of chronic liver disease and any one of the three laboratory findings on one evaluation.

105.05 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 23022.959 Jervell and Lange-Nielsen Syndrome

COMPASSIONATE ALLOWANCE INFORMATION

JERVELL AND LANGE-NIELSEN SYNDROME

ALTERNATE NAMES

Jervell Lange Syndrome; Jervell Nielsen Disease; Nielsen Syndrome; Cardio Auditory Syncope Syndrome; Cardioauditory Syndrome of Jervell and Lange-Nielsen; Surdo Cardiac Syndrome; Long QT Syndrome; LQTS

DESCRIPTION

Jervell and Lange-Nielsen Syndrome (JLNS) is a condition that occurs when congenital sensorineural hearing loss and long QT syndrome occur together. Long QT syndrome is a heart condition where the heart muscles take longer than usual to recharge between beats, which may lead to arrhythmias. Beginning in early childhood, the irregular heartbeats increase the risk of fainting (syncope) and sudden death. Physical activity, excitement, or stress may trigger the onset of symptoms in children. Mutations in the KCNE1 and KCNQ1 genes cause JLNS.

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

Diagnostic testing: The diagnosis of JLNS is established by:

  • Audiologic evaluation for extent of hearing loss (congenital sensorineural deafness);

  • Cardiac examination including electrocardiogram (ECG) calculation of long QTc interval (greater than 500 msecs);milliseconds (msec); and

  • Genetic testing for the presence of mutations in either KCNQ1 or KCNE1 genes.

Physical findings: JLNS is characterized by:

  • Congenital profound bilateral sensorineural hearing loss; and

  • Long QTc interval greater than 500 msec.

ICD-9: 426.82

ICD-10: I45.81

PROGRESSION

This disorder is usually detected in early childhood. Fifty percent of individuals with JLNS have cardiac events before age three years. Sudden cardiac death appears to be low in individuals younger than age five years. Early medical therapy is advisable for high-risk individuals and implantable cardioverter defibrillator (ICD) placement should be considered after age five years. More than half of untreated children with JLNS die prior to age 15 years.

TREATMENT

An interdisciplinary team of health care providers usually treat issues associated with JLNS. This team may consist of an otologist or otolaryngologist, cardiologist, audiologist, or speech language pathologist. Individuals with JLNS are prescribed cochlear implants to treat hearing loss; beta adrenergic blockers medications for long QT interval; and ICD placement for individuals with a history of cardiac arrest and/or failure.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

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

  • Complete otologic examination and audiometric testing within 2 months of the otologic examination; and

  • Clinical description of the arrhythmias and response to medication, implanted pacemaker, or implanted cardiac defibrillator; and response to episodes of syncope or near syncope.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

2.10 A or B

Listing level severity must be documented.

2.11 A or B

Listing level severity must be documented.

4.05

Listing level severity must be documented.

102.10

Listing level severity must be documented.

102.11

Listing level severity must be documented.

104.05

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 23022.961 Leiomyosarcoma

COMPASSIONATE ALLOWANCE INFORMATION

LEIOMYOSARCOMA

ALTERNATE NAMES

Leiomyosarcoma of the Uterus; Leiomyosarcoma of Vascular Origin; Leiomyosarcoma of the Bone; Leiomyosarcoma of the Retroperitoneum; Leiomyosarcoma Stage IV; Leiomyosarcoma Stage III; High Grade Leiomyosarcoma

DESCRIPTION

Leiomyosarcoma (LMS) is an aggressive soft tissue sarcoma derived from smooth muscle cells of uterine, gastrointestinal, or soft tissue origin. LMS are most often found in the uterus or abdomen, but can spread to other areas through the bloodstream and can affect the lungs, liver, internal organs, blood vessels or other soft tissue in the body.

There are 5 types of LMS:

  • Soft tissue LMS;

  • Cutaneous LMS;

  • Vascular LMS;

  • LMS of the Immunocompromised; and

  • Bone LMS.

LMS is one of the more common types of sarcoma to occur in adults. The exact cause of LMS is unknown. Very rarely, soft tissue sarcomas may occur in an area that has previously been treated with radiotherapy for another type of cancer. Exposure to some types of chemicals may increase the risk of developing some sarcomas. People with early LMS often do not have any symptoms, until the cancer has developed to advanced stages. When the retroperitoneum (area in back of the abdominal cavity) is involved, symptoms may be hidden for a longer period of time because of the large volume of the abdomen, and therefore at presentation the tumor is generally larger than the typical extremity tumor.

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

Diagnostic testing: Diagnostic testing for LMS includes:

  • Physical examination;

  • Imaging tests such as X-ray, ultrasound, CT scan, MRI scan;

  • Endoscopy for tumors with gastrointestinal involvement; and

  • Laboratory analysis. A biopsy confirms the diagnosis.

A biopsy confirms the diagnosis.

Physical findings : Physical findings of LMS vary, depending on the location and size of the tumor. Symptoms may include:

  • A lump or swelling;

  • Abdominal discomfort or bloating;

  • Swelling or pain in any area of the body; or

  • Unusual bleeding.

ICD-9: 171.5; 171.6; 171.8

ICD-10: C49

PROGRESSION

LMS generally occur in adults, but may affect children. Prognosis depends on the type of LMS, although it is generally poor. Deep soft tissue LMS are usually detected before they reach the large size of many retroperitoneal tumors. About half of these patients die of metastatic disease. True intradermal (Cutaneous) LMS is curative with surgery and does not metastasize. LMS of vascular origin has a poor prognosis--metastatic disease to the liver and lungs occurs in 54% of cases. LMS in the Immunocompromised Host behaves aggressively. In Bone LMS, recurrences and metastases occurs in 25% of cases.

TREATMENT

The usual treatment for a LMS is surgery to remove the tumor. This may be followed by radiotherapy to reduce the chance of the cancer coming back. Chemotherapy is also used for some LMS to reduce the chances of the recurrence or to treat LMS that has spread.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Clinical history and examination that describes the diagnostic features of the impairment and laboratory studies are needed to confirm the diagnosis, including biopsy and imaging.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

13.04

13.23 A

Leiomyosarcoma of the uterine corpus which invades adjoining organs or is persistent, recurrent or metastatic meets the criteria in listing 13.23 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 23022.963 Malignant Gastrointestinal Stromal Tumor

COMPASSIONATE ALLOWANCE INFORMATION

MALIGNANT GASTROINTESTINAL STROMAL TUMOR

ALTERNATE NAMES

Gastrointestinal Stromal Neoplasm; Gastrointestinal Stromal Sarcoma

DESCRIPTION

Malignant Gastrointestinal Stromal Tumor (GIST) is a rare type of soft tissue tumor that usually begins in cells in the wall of the stomach, intestines, or rectum. GIST tumors are caused by mutations in the PDGFRA gene. Clinical features of the GIST depend on the size and site of the tumor and may include acute or chronic bleeding, intestinal obstruction, perforation, alteration of bowel habits, difficult to distinguish abdominal discomfort, dysphagia (difficulty swallowing) and externally palpable abdominal mass. The most common symptoms associated with GISTs are vague, nonspecific abdominal pain or discomfort. GISTs may also produce symptoms secondary to obstruction or hemorrhage (GI bleeding, malaise, fatigue, and dyspnea). The obstructive symptoms can be site-specific (e.g., dysphagia with an esophageal GIST, constipation with a colorectal GIST, obstructive jaundice with a duodenal tumor, etc.)

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

Diagnostic testing:

  • Imaging tests such as X-ray, MRI, CT or PET scans;

  • Barium X-rays;

  • Barium swallow tests (upper GI series);

  • Enteroclysis;

  • Barium enema (lower GI series);

  • Capsule endoscopy;

  • Double Balloon Enteroscopy;

  • Endoscopic Ultrasound;

  • Surgical biopsy;

  • Fine Needle Biopsy; or

  • Blood tests.

Physical findings:

  • GI bleeding;

  • GI obstruction, appendicitis-like pain;

  • Constipation;

  • Fatigue;

  • Difficulty swallowing;

  • Anemia due to GI bleed; and

  • Feeling of stomach fullness (satiety).

ICD–9: 238.1

ICD-10: C49.A0, C49.A1, C49.A2, C49.A3, C49.A4, C49.A5, C49.A9

PROGRESSION

GIST tumors range from slow growing indolent tumors to aggressive malignant cancers with the propensity to invade adjacent organs, metastasize to the liver, and recur locally within the abdomen. Most GIST tumors are diagnosed at an advanced stage and have a poor prognosis. These tumors are most commonly diagnosed between ages 55 – 65 years of age, and rarely are discovered in younger adults.

TREATMENT

Surgery with complete resection of GIST is the preferred method of treatment for localized tumors. However, surgery has limited efficacy in the treatment of recurrent and metastatic gastrointestinal stromal tumors, as compared with sarcomas in the extremities. The development of drug therapy (i.e. imatinib) targeted at specific characteristics of cancer cells in GIST has improved the treatment of this tumor compared with surgical removal alone.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

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

  • Pathology report documenting type and stage of tumor;

  • Operative reports;

  • MRI or CT scans; and

  • Abdominal endoscopy, enteroscopy, or ultrasound.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

13.16

When occurring in the stomach, which is the organ where most GISTs originate, any metastases to or beyond the regional lymph nodes will meet the criteria in listing 13.16 B 2.

13.17

Since many of these tumors are benign, listing level cancerous tumors must be documented as inoperable, unresectable, extending to surrounding structures (for example, the omentum), recurrent, or with metastases.

13.18

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 23022.965 Malignant Germ Cell Tumor

COMPASSIONATE ALLOWANCE INFORMATION

MALIGNANT GERM CELL TUMOR

ALTERNATE NAMES

Pediatric Malignant Germ Cell Tumor; Adult Malignant Germ Cell Tumor

DESCRIPTION

Malignant Germ Cell Tumors (GCT) are malignant tumors that are formed by immature cells that begin in the reproductive cells of the testes or ovaries. These germ cells travel into the pelvis as ovarian cells or into the scrotal sac as testicular cells. These cells metastasize to other parts of the body and most commonly spread to the lungs, liver, lymph nodes, and central nervous system.

Adult germ cell tumors are usually in the testes or ovaries. There are germ cell tumors that grow outside of the gonads (very rare). These cells may grow in any location but generally settle in the brain (brain germ cell tumors), chest (chest germ cell tumors), or abdomen (abdominal germ cell tumors). Germ cell tumors in children usually form in the gonads, but can migrate to other areas. The exact cause of malignant GCT is unknown.

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

Diagnostic testing: Biopsy and imaging studies

Physical findings: Physical examination of malignant GCT depend on the size and location of the tumor. Symptoms of malignant GCTs depend on the size and location of the tumor.

Mid chest GCT may cause:

  • Chest pain;

  • Breathing problems;

  • Cough;

  • Weight loss;

  • Nausea; and

  • Fevers.

Lower back GCTs may present as a mass in the lower abdomen or buttocks.

Back of the abdomen GCTs may cause back pain or kidney problems and can sometimes be felt during a physical examination.

GCTs that occur in the brain interfere with the flow of fluid around the brain and spinal cord with symptoms of:

  • Headaches;

  • Nausea;

  • Vomiting;

  • Memory loss;

  • Fatigue;

  • Gait disturbances;

  • Uncontrolled eye movements; and

  • Double vision.

ICD-9: 183.00; 186.00

ICD-10: C56, C62

PROGRESSION

The prognosis for malignant germ cell tumors with distant or recurrent metastasis is poor. Congenital abnormalities affecting the central nervous system including spine, genitals, and urinary tract increase the risk for developing pediatric germ cell tumor malignancy, although these tumors are still extremely rare in children. Adult GCT generally occurs between 30- 40 years of age.

TREATMENT

Treatment for malignant GCT depends on the type of tumor, the stage at diagnosis, and the age of the affected person. The primary treatment of most GCTs involves surgical removal of the tumor. Tumors with distant metastasis or recurrent following debulking surgery are treated with chemotherapy or radiation.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

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

  • Pathology report of biopsy specimen; and

  • Results of imaging.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

13.23 E 2

Listing level severity must be documented.

13.25

Listing level severity must be documented.

113.03

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 23022.969 Menkes Disease - Classic or Infantile Onset Form

COMPASSIONATE ALLOWANCE INFORMATION

MENKES DISEASE – CLASSIC or INFANTILE ONSET FORM

ALTERNATE NAMES

Classical Menkes Disease; Menkes Syndrome ; X-linked Copper Deficiency; Steely Hair Disease; Congenital Hypocupremia

DESCRIPTION

Menkes Disease (MNK) is a rare inherited neurodegenerative disorder that is caused by mutations in the ATP7A gene, resulting in abnormal uptake and metabolism of copper in cells of the body. Low copper levels can affect the structure of bone, skin, hair, and blood vessels and interfere with nerve function. Copper also builds up in the small intestine and kidneys. MNK is characterized by loss of developmental milestones, hypotonia (floppy muscle tone), seizures, feeding difficulties, failure to thrive, subnormal body temperature, and strikingly peculiar hair, which is often colorless or steel colored, and breaks easily. Menkes Disease-Classic form is the most severe type of this disorder and has an infantile onset (usually beginning at age 2-3 months).

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

Diagnostic testing :

  • Low copper and ceruloplasmin levels in the blood;

  • Skin biopsy and fibroblast culture documenting abnormal copper metabolism; and

  • Microscopic examination of the hair showing characteristic menkes abnormalities; molecular genetic testing showing ATP7A mutations.

Physical findings:

  • Characteristic brittle, colorless hair that breaks easily;

  • Poor growth/failure to thrive;

  • Hypotonia (floppy muscle tone);

  • Skeletal deformities and weak bones (osteoporosis); and

  • Global developmental delays.

ICD-9: 759.89

ICD-10: E83.09

PROGRESSION

Children with Classic or infantile onset MNK appear normal at birth, and then start showing symptoms around 2 -3 months of age. The prognosis for infantile onset MNK is poor, with most children dying by age 3.

TREATMENT

Treatment of Menkes disease is symptomatic and supportive. Early treatment with copper may improve the prognosis in some affected individuals.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

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

  • Laboratory findings;

  • CT and MRI showing white matter demyelination, lesions, atrophy, and evidence of rupture or blockage of the arteries; and

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

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

110.08 B

Listing level neuro-cognitive findings must be documented; diagnosis of MNK or genetic laboratory testing results alone does not meet listing severity.

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 23022.971 NFU-1 Mitochondrial Disease

COMPASSIONATE ALLOWANCE INFORMATION

NFU-1 MITOCHONDRIAL DISEASE

ALTERNATE NAMES

Multiple Mitochondrial Dysfunction Syndrome 1; Multiple Mitochondrial Dysfunction Syndrome Type 1; MMDS 1; NFU1 iron-sulfur cluster scaffold homolog (S. cerevisiae)

DESCRIPTION

NFU-1 Mitochondrial Disease (NFU-1) is an inherited disease caused by a mutations in the gene NFU1, resulting in multiple mitochondrial dysfunctions syndrome type 1 (MMDS1), a severe disorder of systemic energy metabolism.

Biochemical features include severe combined deficiency of the 2-oxoacid dehydrogenases, defective lipoic acid synthesis and reduction in activity of mitochondrial respiratory chain complexes.

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

Diagnostic testing:

  • Blood or urine testing for lactic acidosis;

  • Hyperglycinemia carnitine analysis and amino acid analysis;

  • Cerebral imaging; and

  • Muscle biopsy.

Physical findings:

  • General weakness;

  • Respiratory failure;

  • Lactic acidosis;

  • Hyperglycinemia (elevated glycine levels);

  • Hypotonia (floppy muscle tone);

  • Irritability;

  • Failure to thrive;

  • Pulmonary hypertension;

  • Developmental delay; or

  • Neurological regression.

ICD-9: 277.87

ICD-10: E88.40

PROGRESSION

Multiple mitochondrial dysfunction syndrome type 1 is a severe disorder of systemic energy metabolism, resulting in weakness, respiratory failure, lack of neurological development, and early death, usually before the age of 2 years.

TREATMENT

There is no cure for this disorder. Treatment is supportive and dependent on the symptomology.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

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

  • Laboratory testing showing results of genetic chromosome testing or enzyme analysis are needed to confirm the diagnosis.

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 TN 32 - Processing Quick Disability Determination (QDD) and Compassionate Allowance (CAL) in the Disability Determination Services (DDS) - 8/25/2020