Identification Number:
DI 23022 TN 21
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. 21, 12/28/2018

Audience

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

Originating Component

ODP

Effective Date

Upon Receipt

Background

This transmittal contains updates POMS sections DI 23022.106 through DI 23022.937. Revisions include updates to the content to comply with the Social Security Administration’s plain language initiative and updates to policy guidance.

 

Summary of Changes

DI 23022.106 Angiosarcoma

  • Revised the structure of the summary to improve usability and flow of information,

  • Revised “Diagnostic Testing and Coding” section heading to “Diagnostic Testing, Physical Findings, and ICD-9-CM Coding,”

  • Revised “Onset and Progression” section heading to “Progression,”

  • Added information about physical findings that occur with each condition,

  • Added ICD-9-CM coding information,

  • Updated the information in the “Suggested MER for Evaluation” section,

  • Revised “Meets Listing” heading to “Meets,”

  • Revised “Medical Equals” heading to “Equals,”

  • Revised “Listing of Impairments” to “the listings,”

  • Removed last updated information,

  • Removed component identifying information,

  • Added listings to "Meets" section, and

  • Revised language in "Remarks" section .

 

DI 23022.111 Atypical Teratoid/Rhabdoid Tumor

  • Revised the structure of the summary to improve usability and flow of information,

  • Revised “Diagnostic Testing and Coding” section heading to “Diagnostic Testing, Physical Findings, and ICD-9-CM Coding,”

  • Revised “Onset and Progression” section heading to “Progression,”

  • Added information about physical findings that occur with each condition,

  • Added ICD-9-CM coding information,

  • Updated the information in the “Suggested MER for Evaluation” section,

  • Revised “Meets Listing” heading to “Meets,”

  • Revised “Medical Equals” heading to “Equals,”

  • Revised “Listing of Impairments” to “the listings,”

  • Removed last updated information,

  • Removed component identifying information, and

  • Revised language in "Remarks" section.

 

DI 23022.136 Chronic Idiopathic Intestinal Pseudo Obstruction

  • Revised the structure of the summary to improve usability and flow of information,

  • Revised “Diagnostic Testing and Coding” section heading to “Diagnostic Testing, Physical Findings, and ICD-9-CM Coding,”

  • Revised “Onset and Progression” section heading to “Progression,”

  • Added information about physical findings that occur with each condition,

  • Added ICD-9-CM coding information, • Updated the information in the “Suggested MER for Evaluation” section,

  • Revised “Meets Listing” heading to “Meets,”

  • Revised “Medical Equals” heading to “Equals,”

  • Revised “Listing of Impairments” to “the listings,”

  • Removed last updated information, and

  • Removed component identifying information.

 

DI 23022.150 Ependymoblastoma (Child Brain Cancer)

  • Revised the structure of the summary to improve usability and flow of information,

  • Revised “Diagnostic Testing and Coding” section heading to “Diagnostic Testing, Physical Findings, and ICD-9-CM Coding,”

  • Revised “Onset and Progression” section heading to “Progression,”

  • Added information about physical findings that occur with each condition,

  • Added ICD-9-CM coding information,

  • Updated the information in the “Suggested MER for Evaluation” section,

  • Revised “Meets Listing” heading to “Meets,”

  • Revised “Medical Equals” heading to “Equals,”

  • Revised “Listing of Impairments” to “the listings,”

  • Removed last updated information,

  • Removed component identifying information,

  • Updated "Alternate Names" section,

  • Updated "Physical findings" section, and

  • Updated listings in "Meets" section.

 

DI 23022.156 Esthesioneuroblastoma

  • Revised the structure of the summary to improve usability and flow of information,

  • Revised “Diagnostic Testing and Coding” section heading to “Diagnostic Testing, Physical Findings, and ICD-9-CM Coding,”

  • Revised “Onset and Progression” section heading to “Progression,”

  • Added information about physical findings that occur with each condition,

  • Added ICD-9-CM coding information,

  • Updated the information in the “Suggested MER for Evaluation” section,

  • Revised “Meets Listing” heading to “Meets,”

  • Revised “Medical Equals” heading to “Equals,”

  • Revised “Listing of Impairments” to “the listings,”

  • Removed last updated information,

  • Removed component identifying information, and

  • Updated "Remarks" in "Equals" section.

 

DI 23022.201 Intracranial Hemangiopericytoma

  • Revised the structure of the summary to improve usability and flow of information,

  • Revised “Diagnostic Testing and Coding” section heading to “Diagnostic Testing, Physical Findings, and ICD-9-CM Coding,”

  • Revised “Onset and Progression” section heading to “Progression,”

  • Added information about physical findings that occur with each condition,

  • Added ICD-9-CM coding information,

  • Updated the information in the “Suggested MER for Evaluation” section,

  • Revised “Meets Listing” heading to “Meets,”

  • Revised “Medical Equals” heading to “Equals,”

  • Revised “Listing of Impairments” to “the listings,”

  • Removed last updated information,

  • Removed component identifying information, and

  • Updated "Alternate Names" section.

 

DI 23022.216 Leptomeningeal Carcinomatosis

  • Revised the structure of the summary to improve usability and flow of information,

  • Revised “Diagnostic Testing and Coding” section heading to “Diagnostic Testing, Physical Findings, and ICD-9-CM Coding,”

  • Revised “Onset and Progression” section heading to “Progression,”

  • Added information about physical findings that occur with each condition,

  • Added ICD-9-CM coding information,

  • Updated the information in the “Suggested MER for Evaluation” section,

  • Revised “Meets Listing” heading to “Meets,”

  • Revised “Medical Equals” heading to “Equals,”

  • Revised “Listing of Impairments” to “the listings,”

  • Removed last updated information,

  • Removed component identifying information, and

  • Updated "Remarks" in "Meets" section.

 

DI 23022.221 Liposarcoma - Metastatic or Recurrent

  • Revised the structure of the summary to improve usability and flow of information,

  • Revised “Diagnostic Testing and Coding” section heading to “Diagnostic Testing, Physical Findings, and ICD-9-CM Coding,”

  • Revised “Onset and Progression” section heading to “Progression,”

  • Added information about physical findings that occur with each condition,

  • Added ICD-9-CM coding information,

  • Updated the information in the “Suggested MER for Evaluation” section,

  • Revised “Meets Listing” heading to “Meets,”

  • Revised “Medical Equals” heading to “Equals,”

  • Revised “Listing of Impairments” to “the listings,”

  • Removed last updated information,

  • Removed component identifying information, and

  • Revised "Description" section.

 

DI 23022.226 Malignant Ectomesenchymoma

  • Revised the structure of the summary to improve usability and flow of information,

  • Revised “Diagnostic Testing and Coding” section heading to “Diagnostic Testing, Physical Findings, and ICD-9-CM Coding,”

  • Revised “Onset and Progression” section heading to “Progression,”

  • Added information about physical findings that occur with each condition,

  • Added ICD-9-CM coding information,

  • Updated the information in the “Suggested MER for Evaluation” section,

  • Revised “Meets Listing” heading to “Meets,”

  • Revised “Medical Equals” heading to “Equals,”

  • Revised “Listing of Impairments” to “the listings,”

  • Removed last updated information,

  • Removed component identifying information, and

  • Revised "Description" section.

 

DI 23022.227 Malignant Renal Rhabdoid Tumor

  • Revised the structure of the summary to improve usability and flow of information,

  • Revised “Diagnostic Testing and Coding” section heading to “Diagnostic Testing, Physical Findings, and ICD-9-CM Coding,”

  • Revised “Onset and Progression” section heading to “Progression,”

  • Added information about physical findings that occur with each condition,

  • Added ICD-9-CM coding information,

  • Updated the information in the “Suggested MER for Evaluation” section,

  • Revised “Meets Listing” heading to “Meets,”

  • Revised “Medical Equals” heading to “Equals,”

  • Revised “Listing of Impairments” to “the listings,”

  • Removed last updated information, and

  • Removed component identifying information.

 

DI 23022.231 Marshall-Smith Syndrome

  • Revised the structure of the summary to improve usability and flow of information,

  • Revised “Diagnostic Testing and Coding” section heading to “Diagnostic Testing, Physical Findings, and ICD-9-CM Coding,”

  • Revised “Onset and Progression” section heading to “Progression,”

  • Added information about physical findings that occur with each condition,

  • Added ICD-9-CM coding information,

  • Updated the information in the “Suggested MER for Evaluation” section,

  • Revised “Meets Listing” heading to “Meets,”

  • Revised “Medical Equals” heading to “Equals,”

  • Revised “Listing of Impairments” to “the listings,”

  • Removed last updated information,

  • Removed component identifying information,

  • Updated "Alternate Names" section, and

  • Revised "Remarks" in"Meets" section.

 

DI 23022.246 Oligodendroglioma Brain Cancer - Grade III

  • Revised the structure of the summary to improve usability and flow of information,

  • Revised “Diagnostic Testing and Coding” section heading to “Diagnostic Testing, Physical Findings, and ICD-9-CM Coding,”

  • Revised “Onset and Progression” section heading to “Progression,”

  • Added information about physical findings that occur with each condition,

  • Added ICD-9-CM coding information,

  • Updated the information in the “Suggested MER for Evaluation” section,

  • Revised “Meets Listing” heading to “Meets,”

  • Revised “Medical Equals” heading to “Equals,”

  • Revised “Listing of Impairments” to “the listings,”

  • Removed last updated information,

  • Removed component identifying information, and

  • Revised "Diagnostic testing" information.

 

DI 23022.282 Prostate Cancer - Hormone Refractory Disease – or with Visceral Metastases

  • Revised the structure of the summary to improve usability and flow of information,

  • Revised “Diagnostic Testing and Coding” section heading to “Diagnostic Testing, Physical Findings, and ICD-9-CM Coding,”

  • Revised “Onset and Progression” section heading to “Progression,”

  • Added information about physical findings that occur with each condition,

  • Added ICD-9-CM coding information,

  • Updated the information in the “Suggested MER for Evaluation” section,

  • Revised “Meets Listing” heading to “Meets,”

  • Revised “Medical Equals” heading to “Equals,”

  • Revised “Listing of Impairments” to “the listings,”

  • Removed last updated information,

  • Removed component identifying information, and

  • Revised "Treatment" section..

 

DI 23022.286 Revesz Syndrome

  • Revised the structure of the summary to improve usability and flow of information,

  • Revised “Diagnostic Testing and Coding” section heading to “Diagnostic Testing, Physical Findings, and ICD-9-CM Coding,”

  • Revised “Onset and Progression” section heading to “Progression,”

  • Added information about physical findings that occur with each condition,

  • Added ICD-9-CM coding information, • Updated the information in the “Suggested MER for Evaluation” section,

  • Revised “Meets Listing” heading to “Meets,”

  • Revised “Medical Equals” heading to “Equals,”

  • Revised “Listing of Impairments” to “the listings,”

  • Removed last updated information, and

  • Removed component identifying information.

 

DI 23022.315 Small-Cell Cancer of the Female Genital Tract

  • Revised the structure of the summary to improve usability and flow of information,

  • Revised “Diagnostic Testing and Coding” section heading to “Diagnostic Testing, Physical Findings, and ICD-9-CM Coding,”

  • Revised “Onset and Progression” section heading to “Progression,”

  • Added information about physical findings that occur with each condition,

  • Added ICD-9-CM coding information,

  • Updated the information in the “Suggested MER for Evaluation” section,

  • Revised “Meets Listing” heading to “Meets,”

  • Revised “Medical Equals” heading to “Equals,”

  • Revised “Listing of Impairments” to “the listings,”

  • Removed last updated information,

  • Removed component identifying information,

  • Removed listings 13.23 A and B from "Meets" section.

 

DI 23022.326 Soft Tissue Sarcoma - with Distant Metastases or Recurrent

  • Revised the structure of the summary to improve usability and flow of information,

  • Revised “Diagnostic Testing and Coding” section heading to “Diagnostic Testing, Physical Findings, and ICD-9-CM Coding,”

  • Revised “Onset and Progression” section heading to “Progression,”

  • Added information about physical findings that occur with each condition,

  • Added ICD-9-CM coding information,

  • Updated the information in the “Suggested MER for Evaluation” section,

  • Revised “Meets Listing” heading to “Meets,”

  • Revised “Medical Equals” heading to “Equals,”

  • Revised “Listing of Impairments” to “the listings,”

  • Removed last updated information, and

  • Removed component identifying information.

 

DI 23022.346 X-Linked Lymphoproliferative Disease

  • Revised the structure of the summary to improve usability and flow of information,

  • Revised “Diagnostic Testing and Coding” section heading to “Diagnostic Testing, Physical Findings, and ICD-9-CM Coding,”

  • Revised “Onset and Progression” section heading to “Progression,”

  • Added information about physical findings that occur with each condition,

  • Added ICD-9-CM coding information,

  • Updated the information in the “Suggested MER for Evaluation” section,

  • Revised “Meets Listing” heading to “Meets,”

  • Revised “Medical Equals” heading to “Equals,”

  • Revised “Listing of Impairments” to “the listings,”

  • Removed last updated information, and

  • Removed component identifying information.

 

DI 23022.570 Ventricular Assist Device Recipient — Left, Right, or Biventricular

  • Revised the structure of the summary to improve usability and flow of information,

  • Revised “Diagnostic Testing and Coding” section heading to “Diagnostic Testing, Physical Findings, and ICD-9-CM Coding,”

  • Revised “Onset and Progression” section heading to “Progression,”

  • Added information about physical findings that occur with each condition,

  • Added ICD-9-CM coding information,

  • Updated the information in the “Suggested MER for Evaluation” section,

  • Revised “Meets Listing” heading to “Meets,”

  • Revised “Medical Equals” heading to “Equals,”

  • Revised “Listing of Impairments” to “the listings,”

  • Removed last updated information, and

  • Removed component identifying information.

 

DI 23022.580 Cardiac Amyloidosis - AL Type

  • Revised the structure of the summary to improve usability and flow of information,

  • Revised “Diagnostic Testing and Coding” section heading to “Diagnostic Testing, Physical Findings, and ICD-9-CM Coding,”

  • Revised “Onset and Progression” section heading to “Progression,”

  • Added information about physical findings that occur with each condition,

  • Added ICD-9-CM coding information,

  • Updated the information in the “Suggested MER for Evaluation” section,

  • Revised “Meets Listing” heading to “Meets,”

  • Revised “Medical Equals” heading to “Equals,”

  • Revised “Listing of Impairments” to “the listings,”

  • Removed last updated information, and

  • Removed component identifying information.

 

DI 23022.700 Child Lymphoma

  • Revised the structure of the summary to improve usability and flow of information,

  • Revised “Diagnostic Testing and Coding” section heading to “Diagnostic Testing, Physical Findings, and ICD-9-CM Coding,”

  • Revised “Onset and Progression” section heading to “Progression,”

  • Added information about physical findings that occur with each condition,

  • Added ICD-9-CM coding information,

  • Updated the information in the “Suggested MER for Evaluation” section,

  • Revised “Meets Listing” heading to “Meets,”

  • Revised “Medical Equals” heading to “Equals,”

  • Revised “Listing of Impairments” to “the listings,”

  • Removed last updated information,

  • Removed component identifying information,

  • Updated "Alternate Names" section,

  • Updated listings in "Meets" section, and

  • Updated "Remarks" in Meets" section.

 

DI 23022.810 Skin Malignant Melanoma with Metastases

  • Revised the structure of the summary to improve usability and flow of information,

  • Revised “Diagnostic Testing and Coding” section heading to “Diagnostic Testing, Physical Findings, and ICD-9-CM Coding,”

  • Revised “Onset and Progression” section heading to “Progression,”

  • Added information about physical findings that occur with each condition,

  • Added ICD-9-CM coding information,

  • Updated the information in the “Suggested MER for Evaluation” section,

  • Revised “Meets Listing” heading to “Meets,”

  • Revised “Medical Equals” heading to “Equals,”

  • Revised “Listing of Impairments” to “the listings,”

  • Removed last updated information,

  • Removed component identifying information,

  • Added listings to "Equals" section, and

  • Added "Remarks" to "Equals" section.

 

DI 23022.820 Medulloblastoma

  • Revised the structure of the summary to improve usability and flow of information,

  • Revised “Diagnostic Testing and Coding” section heading to “Diagnostic Testing, Physical Findings, and ICD-9-CM Coding,”

  • Revised “Onset and Progression” section heading to “Progression,”

  • Added information about physical findings that occur with each condition,

  • Added ICD-9-CM coding information,

  • Updated the information in the “Suggested MER for Evaluation” section,

  • Revised “Meets Listing” heading to “Meets,”

  • Revised “Medical Equals” heading to “Equals,”

  • Revised “Listing of Impairments” to “the listings,”

  • Removed last updated information,

  • Removed component identifying information, and

  • Revised “Suggested MER for Evaluation” section.

 

DI 23022.937 Child Lymphoblastic Lymphoma

  • Revised the structure of the summary to improve usability and flow of information,

  • Revised “Diagnostic Testing and Coding” section heading to “Diagnostic Testing, Physical Findings, and ICD-9-CM Coding,”

  • Revised “Onset and Progression” section heading to “Progression,”

  • Added information about physical findings that occur with each condition,

  • Added ICD-9-CM coding information,

  • Updated the information in the “Suggested MER for Evaluation” section,

  • Revised “Meets Listing” heading to “Meets,”

  • Revised “Medical Equals” heading to “Equals,”

  • Revised “Listing of Impairments” to “the listings,”

  • Removed last updated information, and

  • Removed component identifying information.

DI 23022.106 Angiosarcoma

COMPASSIONATE ALLOWANCE INFORMATION

ANGIOSARCOMA

ALTERNATE NAMES

Primary Angiosarcoma; Secondary Angiosarcoma

DESCRIPTION

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

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

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

  • A physical examination;

  • CT/MRI scans;

  • PET scans; and

  • Ultrasound.

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

ICD 9: 171.9

PROGRESSION

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

TREATMENT

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

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for evaluation:

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

  • Biopsy report.

  • Imaging reports.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

13.03 A

13.04

13.13 A 3

Evaluate in adults under 13.03 A, 13.04, or 13.13 A 3 depending upon site of origin, upon diagnosis confirmed by objective medical evidence.

113.03

113.13 C

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

Equals

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

DI 23022.111 Atypical Teratoid/Rhabdoid Tumor

COMPASSIONATE ALLOWANCE INFORMATION

ATYPICAL TERATOID/RHABDOID TUMOR

ALTERNATE NAMES

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

DESCRIPTION

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

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

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

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

  • Clinical history;

  • Physical examination;

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

  • Biopsy results;

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

  • INI1 gene testing for mutations.

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

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

  • Unusual sleepiness or change in activity level;

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

  • Increased head size in infants.

ICD-9: 191.00

PROGRESSION

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

TREATMENT

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

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for evaluation:

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

  • Pathology report.

  • Operative reports.

  • MRI/ CT scans, bone scans, ultrasound.

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

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

13.13 A

 

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

113.13

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

Equals

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

DI 23022.136 Chronic Idiopathic Intestinal Pseudo Obstruction

COMPASSIONATE ALLOWANCE INFORMATION

CHRONIC IDIOPATHIC INTESTINAL PSEUDO OBSTRUCTION

ALTERNATE NAMES

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

DESCRIPTION

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

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

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

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

• Transit time measurements;

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

• Abdominal x-rays;

• Gastric emptying radionuclide scan:

• Intestinal radionuclide scan;

• Barium swallow, barium enema;

• Blood test for nutritional or vitamin deficiencies;

• Colonoscopy; and

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

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

• Abdominal pain;

• Distensions/fullness;

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

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

ICD-9: 560.89

PROGRESSION

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

TREATMENT

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

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for evaluation:

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

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

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

5.08

Listing level severity must be documented.

105.08 A and B

105.10

Listing level severity must be documented.

Equals

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

DI 23022.150 Ependymoblastoma (Child Brain Cancer)

COMPASSIONATE ALLOWANCE INFORMATION

EPENDYMOBLASTOMA (CHILD BRAIN CANCER)

ALTERNATE NAMES

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

DESCRIPTION

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

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

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9 CODING

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

• Clinical history and physical examinations;

• Neurological examination;

• CT/MRI scans of the brain and spine;

• Lumbar puncture; and

• Biopsy.

Physical findings: Children with an ependymoblastoma may present with:

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

• Lack of coordination;

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

• Unusual sleepiness or changes in energy level;

• Double vision;

• Increased intracranial pressure, seizures; and

• Headaches.

ICD-9: 191.9

TREATMENT

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

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

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

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

PROGRESSION

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

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

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

• Pathology reports of the cancer.

• Cytology report of the cerebrospinal fluid (CSF).

• Neuroradiological studies including CT or MRI of the brain.

• Neuroradiological studies of the entire neuraxis.

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

113.13 A

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

DI 23022.156 Esthesioneuroblastoma

COMPASSIONATE ALLOWANCE INFORMATION

ESTHESIONEUROBLASTOMA

ALTERNATE NAMES

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

DESCRIPTION

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

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

Diagnostic testing:

  • Physical examination of the eyes, nose and throat; Endoscopy examination of the mouth and nose;

  • CT, MRI or PET scan; biopsy; or

  • Laboratory testing of the blood and urine.

Physical findings: People with an esthesioneuroblastoma may present with:

• Nasal obstruction;

• Nosebleeds (epistaxis);

• Changes in the sense of smell (hyposmia);

• Nasal discharge (pus);

• Facial pain;

• Changes in vision;

• Excessive tearing from the eyes (lacrimation);

• Facial or tooth numbness;

• Ear pain or pressure;

• Enlarged lymph nodes in the neck; and

• Difficulty opening the mouth.

ICD-9: 160.0

PROGRESSION

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

TREATMENT

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

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for evaluation:

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

  • Endoscopy reports.

  • CT/MRI and PET scan reports.

  • Biopsy reports.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

13.13 A 2

Must be progressive or recurrent following initial antineoplastic therapy.

113.21 A, B, C, or D

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

Equals

13.13 B 1

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

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

DI 23022.201 Intracranial Hemangiopericytoma

COMPASSIONATE ALLOWANCE INFORMATION

INTRACRANIAL HEMANGIOPERICYTOMA

ALTERNATE NAMES

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

DESCRIPTION

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

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

Diagnostic testing: Diagnostic testing for HPC includes:

• A biopsy to confirm the diagnosis;

• Blood tests; and

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

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

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

PROGRESSION

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

TREATMENT

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

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for evaluation:

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

  • Oncology consultation reports.

  • Imaging studies.

  • Biopsy reports.

  • Pathology reports.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

13.13 A

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

113.13

Equals

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

DI 23022.216 Leptomeningeal Carcinomatosis

COMPASSIONATE ALLOWANCE INFORMATION

LEPTOMENINGEAL CARCINOMATOSIS

ALTERNATE NAMES

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

DESCRIPTION

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

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

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

Physical findings: Clinical features of this disease include:

• Headaches;

• Nausea;

• Vomiting;

• Light-headedness;

• Gait difficulties;

• Ataxia;

• Memory problems;

• Incontinence; and

• Sensory abnormalities.

ICD-9: 349.2

PROGRESSION

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

TREATMENT

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

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for evaluation:

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

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

  • Biopsy reports.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

13.00

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

13.13 A

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

13.27

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

113.00

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

113.13 A

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

Equals

13.13 A

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

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

DI 23022.221 Liposarcoma - Metastatic or Recurrent

COMPASSIONATE ALLOWANCE INFORMATION

LIPOSARCOMA

ALTERNATE NAMES

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

DESCRIPTION

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

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

Diagnostic testing: X-ray or MRI of the affected areas; and histologic examination of tissue by needle or surgical biopsy.

Physical findings: People with a liposarcoma may present with:

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

• Pain or soreness caused by compressed nerves or muscles;

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

• Reduced range of motion in the affected areas.

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

PROGRESSION

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

TREATMENT

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

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for evaluation:

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

  • Biopsy reports.

  • Imaging reports.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

13.04 A or B;

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

113.03

Equals

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

DI 23022.226 Malignant Ectomesenchymoma

COMPASSIONATE ALLOWANCE INFORMATION

MALIGNANT ECTOMESENCHYMOMA

ALTERNATE NAMES

Mature Ectomesenchymoma; Gangliorhabdomyosarcoma; Rhabdomyosarcoma with Ganglionic Differentiation

DESCRIPTION

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

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

Diagnostic testing: Testing for malignant ectomesenchymoma tumors includes imaging studies (CT, MRI, or nucleide scans such as liver-spleen scans); spinal tap for cerebrospinal fluid cytology; urinary catecholamines; and bone marrow biopsy.

Physical findings: Depends on the location of the tumor.

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

PROGRESSION

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

TREATMENT

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

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for evaluation:

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

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

  • Laboratory findings.

  • Biopsy reports.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

13.04

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

13.13 A 3

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

113.03

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

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

Equals

 

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

DI 23022.227 Malignant Renal Rhabdoid Tumor

COMPASSIONATE ALLOWANCE INFORMATION

MALIGNANT RENAL RHABDOID TUMOR

ALTERNATE NAMES

Malignant Rhabdoid Tumor of the Kidney; Malignant RT

DESCRIPTION

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

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

Diagnostic testing: The diagnosis of MRRT is made by:

• Biopsy with histology reports;

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

• Imaging studies such as, Chest CT, abdominal ultrasound; MRI, CT, or PET scan imagining of the brain and bone scan when evidence of metastases is warranted.

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

Children with this tumor may present with:

• Pain;

• High blood pressure;

• Hematuria;

• Fever;

• Synchronous or metachronous CNS lesions; and

• Metastases and secondary primary cancers.

ICD-9: 189.0

PROGRESSION

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

TREATMENT

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

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for evaluation:

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

• Laboratory findings are needed to confirm the diagnosis.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

13.21

 

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

113.03

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

Equals

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

DI 23022.231 Marshall-Smith Syndrome

COMPASSIONATE ALLOWANCE INFORMATION

MARSHALL-SMITH SYNDROME

ALTERNATE NAMES

MSS

DESCRIPTION

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

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

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

Physical findings: People with MSS may present with:

• Short stature;

• Kyphoscoliosis;

• Nontraumatic fractures;

• Failure to thrive;

• Developmental delay or intellectual disability;

• Respiratory compromise;

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

• Depressed nasal bridge;

• Small upturned nose; and

• Micrognathia (abnormally small jaws).

ICD-9: 759.89

PROGRESSION

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

TREATMENT

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

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for evaluation:

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

  • Imaging of the skeleton showing accelerated osseous maturation.

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

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

100.05

103.06

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

Equals

2.09

Refer to SSR 98-1p.

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

DI 23022.246 Oligodendroglioma Brain Cancer - Grade III

COMPASSIONATE ALLOWANCE INFORMATION

OLIGODENDROGLIOMA BRAIN CANCER - GRADE III

ALTERNATE NAMES

Anaplastic Oligodendroglioma

DESCRIPTION

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

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

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

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

• Headaches;

• Seizures;

• Increased intracranial pressure; and

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

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

PROGRESSION

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

TREATMENT

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

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for evaluation:

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

  • Biopsy report.

  • Imaging study results.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

13.13 A 1

 

Meets the criteria in listings 13.13 A1 upon confirmed diagnosis, regardless of effectiveness of treatment.

113.13

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

Equals

 

 

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

DI 23022.282 Prostate Cancer – Hormone Refractory Disease – or with Visceral Metastases

COMPASSIONATE ALLOWANCE INFORMATION

PROSTATE CANCER - HORMONE REFRACTORY DISEASE

ALTERNATE NAMES

Jewett Stage D2 Prostate Cancer; Stage D2 Metastatic Prostate Cancer; Hormone Refractory Metastatic Prostate Cancer; Metastatic Castration-Resistant Prostate Cancer

DESCRIPTION

Prostate Cancer – Hormone Refractory Disease occurs when the cancer is recurrent (comes back despite hormonal intervention) or the cancer has spread to the bone or visceral organs (visceral metastases) such as the liver and lungs.

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

Diagnostic testing: The diagnosis and staging of prostate cancer requires:

• Fine needle biopsy of a prostate mass;

• Digital rectal examination (DRE);

• Prostate Specific Antigen (PSA) blood test;

• Transrectal (TRUS) ultrasound;

• Radionuclide bone scans;

• Computerized tomography (CT scan);

• Magnetic Resonance Imaging (MRI);

• ProstaScint Scan;

• Lymph node biopsy; and

• Laparoscopic biopsy.

Physical findings: People with advanced prostate cancer-hormone refractory disease may present with:

• Blood in the urine;

• Impotence;

• Pain in the hips, back (spine), or chest (ribs);

• Weakness or numbness in the legs or feet; and

• Loss of bladder or bowel control.

ICD-9: 185

PROGRESSION

The overwhelming majority of prostate cancers are diagnosed early and have an extremely high long-term survival rate. For those cancers diagnosed after the cancer has spread, the survival rate is much lower.

TREATMENT

The initial anticancer treatment for prostate cancer usually is –hormone therapy (for example, androgen). Refractory disease occurs when prostate cancer no longer responds to hormone therapy (that is, androgen-independent disease). Treatments for hormone refractory prostate cancer includeis chemotherapy, adrenal suppressants,immunotherapy drugs, and external beam radiation therapy (EBRT).

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for evaluation:

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

  • Pathology report of biopsy findings.

  • Treatment notes indicating antineoplastic therapy.

  • Surgery or imaging reports that document the spread or recurrence of prostate cancer.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

13.24 A or B

Listing-level criteria requires prostate cancer to be either: metastatic (Stage IV) to lung, liver, or other internal visceral organ (excluding bone metastases); or progressive or recurrent despite initial hormonal therapy. Prostate Cancer with visceral metastases meets the criteria in listing 13.24 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 23022.286 Revesz Syndrome

COMPASSIONATE ALLOWANCE INFORMATION

REVESZ SYNDROME

ALTERNATE NAMES

Revesz-DeBuse Syndrome; Revesz-Debuse Disease; Revesz Disorder; Exudative Retinopathy with Bone Marrow Failure; Exudative Retinopathy with Bone Marrow Failure and Cerebellar Hypoplasia

DESCRIPTION

Revesz Syndrome is a congenital disorder characterized by aplastic anemia (failure of the blood system) and retinopathy (degenerative disease of the retina), and anomalies in the central nervous system. This disorder has effects similar in severity and fatality to that of Hoyeraal-Hriedarsson Syndrome (see Hoyeraal-Hriedarsson impairment summary). This disorder usually presents in early childhood with signs of progressively worsening eye and balance problems; significant developmental delay and intellectual disability; and characteristic skin changes. Revesz Syndrome is caused by mutations in the TRF1-Interacting Nuclear Factor 2 (TINF2) and telomeres.

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

Diagnostic testing : The diagnosis of revesz syndrome is usually made on a clinical basis.

• Laboratory blood testing includes complete blood counts (CBC);

• Reticulocyte counts;

• Hemoglobin electrophoresis;

• Quantitative hemoglobin A2;

• Quantitative hemoglobin F; and

• Testing for the TINF2 gene establishes the genetic diagnosis.

Physical findings: Physical examination may reveal:

• Excess fluid in the retina of the eye (exudative retinopathy);

• Retinal detachment;

• Retinitis pigmentosa;

• Brain abnormalities that may lead to unsteadiness and balance problems (ataxia);

• Delays in growth;

• Hypopigmented sparse hair;

• Tongue ulcers;

• Atrophic nail changes;

• Hypolastic anemia; and

• Cerebral calcifications.

ICD-9: 759.89

PROGRESSION

Signs and symptoms of this disorder usually present in childhood between 5 and 15 years of age. Children develop symptoms of visual disturbances and balance problems. As the disease progresses severe vision loss and blindness may occur depending on the degree of retinal and vitreous disease. The overall prognosis for individuals with this disease is guarded, primarily as a result of bone marrow failure, infections, liver failure and lung failure.

TREATMENT

Treatment for this disorder is symptom specific and may require a multidisciplinary team of specialists. The treatment team would likely consist of a pediatrician, ophthalmologist, hematologist, dermatologist, and neurologist. The most serious consequence of this disease is bone marrow failure, and the only long-term cure has been with stem cell/bone marrow transplantation. Life-long medical monitoring is required for systemic and ocular disease.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for evaluation:

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

  • Laboratory reports documenting hemoglobin levels and electrophoresis (rule out other hematologic disorders); iron studies to document iron overload or liver toxicity.

  • Genetic tests, such as HLA typing, may be done to evaluate for potential bone marrow transplantation, but are not required for diagnosis.

  • Evidence measuring best corrected visual acuity or the extent of visual fields.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

102.02 A or B

Listing level severity must be documented; May need to evaluate under other affected body systems.

102.03 A, B or C

Listing level severity must be documented; May need to evaluate under other affected body systems.

102.04

Listing level severity must be documented; May need to evaluate under other affected body systems.

Equals

7.17

Listing level severity must be documented.

107.03

Listing level severity must be documented.

110.08 B

Listing level severity must be documented.

* 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 23022.315 Small-Cell Cancer of the Female Genital Tract

COMPASSIONATE ALLOWANCE INFORMATION

SMALL-CELL CANCER OF THE FEMALE GENITAL TRACT

ALTERNATE NAMES Small-Cell Carcinoma of the Uterus; Small-Cell Carcinoma of the Vagina; Small-Cell Carcinoma of the Vulva; Small-Cell Carcinoma of the Endometrium; Small-Cell Carcinoma of the Fallopian Tube; Small-Cell Cancer of the Ovary; Small-Cell Cancer of the Cervix; Vaginal Small-Cell Carcinoma; Vaginal Small-Cell Cancer; Primary Vaginal Small-Cell Carcinoma; Poorly Differentiated Neuroendocrine Cancer of the Vaginal Tract

DESCRIPTION

Small-Cell Cancer (SCC) of the Female Genital Tract (FGT) occurs most frequently in the cervix, but can also occur in the endometrium, ovary, fallopian tube, vagina, and vulva. It is an extremely aggressive cancer with a biological behavior that is similar to small-cell cancer of the lung. Neuroendocrine tumors of the FGT, of which SCC FGT are a subset are rare cancers that account for less than 2% of gynecological cancers.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9 CODING

Diagnostic testing : CT Scan of FGT, brain, chest, abdomen, and pelvis; and bone marrow testing.

Physical findings: Individuals with SCC FGT may be asymptomatic but usually present with:

• Localized pain;

• Vaginal bleeding;

• Abdominal bloating or a mass; or

• Symptoms of metastasis disease to the liver, bone, lung, or regional lymph nodes.

ICD 9: 179.;180.1;180.8; 183.0; 183.2; 183.3; 183.5; 183.8; 183.9;184.4; 184.8; 184.9

TREATMENT

There is no standard treatment for SCC FGT. Treatment is symptom specific and generally consists of a combination of surgery; radiation; chemotherapy; and immunotherapy.

PROGRESSION

SCC of the uterus or cervix is a highly aggressive tumor that often metastasizes early and widely by both lymphatic and haematogenous routes and involves regional and distant lymph nodes, lung, bone and brain and liver. The disease-free interval is usually less than two years with an almost 70% rate of recurrence within 12 months of diagnosis. Long-term survival is possible for individuals with cancers that are clinically localized to the cervix but individuals with more advanced stage of the disease is poor with very few long-term survivors.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

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

• Pathology report showing SCC FGT.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

13.23 F

SCC FGT meets the criteria in listing 13.23 F upon confirmed diagnosis.

Equals

 

 

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

DI 23022.326 Soft Tissue Sarcoma - with Distant Metastases or Recurrent

COMPASSIONATE ALLOWANCE INFORMATION

SOFT TISSUE SARCOMA

ALTERNATE NAMES

Malignant Soft Tissue Sarcoma; Malignant Soft Tissue Tumor; Malignant Mesenchymal Tumor ; Mesenchymal Sarcoma

DESCRIPTION

Soft Tissue Sarcoma is cancer that develops in the connective tissues (e.g. skeletal muscles, tendons, fat, fibrous tissues, deep skin tissues, and blood vessels) and the peripheral nervous system. Adult soft tissue sarcomas can form almost anywhere in the body, but are more common in the head, neck, arms, legs, trunk, and abdomen. In children, the tumors form most often in the arms, legs, or trunk (chest and abdomen). The exact cause of soft tissue sarcoma is unknown. Individuals with environmental exposure to high levels of some chemicals, radiation, or have certain genetic conditions may be at risk for developing soft tissue sarcoma. Soft Tissue Sarcoma with distant metastases or recurrent is considered an aggressive tumor because it often quickly spreads from the original site to other parts of the body such as lungs and lymph nodes.

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

Diagnostic testing: The definitive diagnosis of soft tissue sarcoma is based on:

• Histologic findings;

• Incisional biopsy;

• Core biopsy;

• Excisional biopsy;

• Immunohistochemistry, cytogenic and molecular studies;

• Frozen section and intraoperative cytology;

• Fluorescence in situ hybridization (FISH); and

• Flow cytometry.

Biopsy reports are definitive.

Physical findings: The physical findings are dependent upon the location of the tumor mass and may include localized pain; swelling and warmth at the site of the tumor; fever; and unexplained weight loss.

ICD-9 : 171.X and other codes, depending upon the site

PROGRESSION

The prognosis of soft tissue sarcoma depends on the type of soft tissue sarcoma; the size of the tumor at first diagnosis; location of the tumor and spread (metastasis) to other organs; whether all of the tumor is removed by surgery; age of the individual; and recurrence. The rate at which these tumors grow is variable. Soft tissue sarcomas are generally large at the time of first diagnosis because they tend not cause any symptoms, until the tumor starts to push aside normal tissue, creating lumps, swelling and other symptoms such as pain or soreness. When soft tissue sarcomas spread to other sites (metastasize) they can have a poor prognosis.

TREATMENT

The treatment of soft tissue sarcomas are based on clinical presentation of local vs. metastatic disease. The main treatment of soft tissue sarcoma is surgery, chemotherapy, and radiation, virtually always used in combination.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

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

  • Imaging tests.

  • Surgical procedures.

  • Pathology reports of biopsy.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

13.04 A or B

Listing level severity must be documented. To meet the criteria in listing 13.04, the cancer must have regional or distant metastases (13.04 A), or be recurrent following initial antineoplastic therapy (13.04 B).

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 23022.346 X-Linked Lymphoproliferative Disease

COMPASSIONATE ALLOWANCE INFORMATION

X-LINKED LYMPHOPROLIFERATIVE DISEASE

ALTERNATE NAMES

Duncan Syndrome; Duncan Disease; Epstein-Barr Virus-Induced Lymphoproliferative Disease in Males; Immunodeficiency-5 (IMD5); EBV Susceptibility (EBVS); Purtilo syndrome

DESCRIPTION

X-Linked Lymphoproliferative Disease (XLD) is an immune system disorder that is found almost exclusively in males. Individuals with XLD have an increased risk of infection because their body cannot properly regulate the number of immune system cells (lymphocytes) and blood cells.  People have two main types of lymphocytes, B cells and T cells, which work together to clear infections and keep the immune system in check. Individuals with XLD lack the proper regulation between B cells and T cells and are therefore unable to affectively destroy invading viruses, such as the usually harmless Epstein-Barr virus (EBV). Typically, individuals with XLD do not display severe symptoms of a compromised immune system until they have been exposed to EBV. EBV infections, however, are common and can become life-threatening in people with XLD resulting in symptoms that include fever, hepatitis, an enlarged spleen, abnormally low numbers of antibodies, and, in some cases, lymphoma and other blood disorders.  XLD is caused by mutations in the SH2D1A gene which makes a protein SAP, a key regulator in immunity, as well as the XIAP gene. XLD is inherited in an X-linked recessive pattern.

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

Diagnostic testing: A definitive diagnosis of XLD is based on:

• Genetic analysis for mutations in the SH2D1A gene and XIAP gene;

• CT or MRI scans of the liver and spleen showing abnormal enlargement;

• Laboratory testing showing abnormally high concentrations of lymphocytes in the blood (lymphocytosis);

• Laboratory tests showing deficient or absent antibody response to EBV antigens (e.g., EBV nuclear antigen);

• Laboratory tests showing abnormally low levels of all classes of immunoglobulins (acquired hypogammaglobulinemia) in the blood and body secretions.

Physical findings: Findings may include:

• Infectious mononucleosis;

• Dysgammaglobunemia;

• Lymphoid granulomatosis of the lungs;

• Hepatomegaly;

• Fulminant hepatitis;

• Liver failure;

• Splenomegaly;

• Meningitis or encephalitis;

• Malignant lymphoma;

• Aplastic anemia;

• Thrombocytopenia or bone marrow failure; and

• Vasculitis.

ICD-9: 238.79

PROGRESSION

XLD is generally diagnosed between the ages of six months to 10 years of age when the initial symptoms of XLD become evident. The prognosis of XLD depends on the occurrence of complications, such as lymphomas and hemophagocytic lymphohistiocytosis. Without allogenic (donor) bone marrow transplantation, approximately 70% of individuals with XLD may not survive beyond the age of 10 years.

TREATMENT

Treatment of XLD may include anti-viral medicines, immunoglobulin therapy or corticosteroids, chemotherapy or antithymocyte globulin. The definitive treatment for XLD is transplantation. XLD affects multiple functions in the body requiring the coordination of care by pediatricians, immunologists, hematologists, oncologists, and other health care professionals.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for evaluation:

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

  • Imaging tests including CT scans and MRI;

  • Laboratory testing of the blood; and

  • Biopsy reports.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

13.05 A, B or C

Listing level malignant neoplastic (for example, lymphoma) and/or immunodeficiency findings must be documented; diagnosis or laboratory testing results alone will not meet listing severity.

14.07

Listing level malignant neoplastic (for example, lymphoma) and/or immunodeficiency findings must be documented; diagnosis or laboratory testing results alone will not meet listing severity.

113.05 A, B, or C

Listing level malignant neoplastic (for example, lymphoma) and/or immunodeficiency findings must be documented; diagnosis or laboratory testing results alone will not meet listing severity.

114.07

Listing level malignant neoplastic (for example, lymphoma) and/or immunodeficiency findings must be documented; diagnosis or laboratory testing results alone will 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 23022.570 Ventricular Assist Device Recipient — Left, Right, or Biventricular

COMPASSIONATE ALLOWANCE INFORMATION
VENTRICULAR ASSIST DEVICE RECIPIENT - LEFT, RIGHT, or BIVENTRICULAR

ALTERNATE NAMES

VAD; Left Ventricular Assist Device Recipient; LVAD Recipient; Right Ventricular Assist Device Recipient; RVAD Recipient; Biventricular Assist Device Recipient; BiVAD Recipient; Heart Pump Recipient; Implantable Ventricular Assist Device Recipient; Implantable VAD Recipient; Long Term Ventricular Assist Device Recipient; Long Term VAD Recipient; Left Ventricular Assist System Recipient; LVAS Recipient; Heart Assist System Implantation Recipient

DESCRIPTION

A Ventricular Assist Device (VAD) is a mechanical pump surgically implanted to assist the heart in pumping blood. The two basic types of VAD are the left ventricular assist device (LVAD) and the right ventricular assist device (RVAD). If both the LVAD and RVAD are used at the same time, then they are called a biventricular assist device (BiVAD). VADs are implanted in people who have weakened hearts or advanced heart failure.

There are three primary reasons for implanting a VAD:

  1. 1. 

    VADs are used during or after surgery, until a weakened heart recovers (“bridge to recovery”).

  2. 2. 

    VADs are used for people waiting for a heart transplant until a donor heart can be obtained (“bridge to transplant”).

  3. 3. 

    VADs are used as a long-term treatment for people with end stage heart failure who are not candidates for heart transplant (for example, people with clotting disorders, irreversible kidney failure, severe liver disease, or infections that cannot be treated with antibiotics). This is also known as “destination therapy.”

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

Diagnostic testing: The diagnostic indicators that are evaluated prior to a VAD placement may include:

• Imaging studies;

• Electrocardiogram (EKG);

• Echocardiography; and

• Blood tests to monitor for infections.

Physical findings :

• Coronary artery disease and heart attack;

• High blood pressure;

• Faulty heart valves;

• Damage to the heart muscle (cardiomyopathy);

• Myocarditis (inflammation of the heart muscles);

• Congenital heart defects; and

• Abnormal heart rhythms (heart arrhythmias).    

ICD-9: 428.9

PROGRESSION

Prior to implantation of the VAD, individuals are admitted into the hospital to prepare them for surgery. During this time, patients receive instruction on how the device works, safety precautions, how to respond to alarms, what to do in the event of a loss of electrical power, personal care before and after the implant, and how to prepare for changes in activities of daily living. Following implantation, there is a risk of infection, internal bleeding, heart failure, and mechanical breakdown of the VAD. Response to implantation of a VAD depends on the severity of the heart condition. Individuals with complications following surgery may require cardiac rehabilitation. Cardiac rehabilitation involves prescribed exercise training, education on heart healthy living, and counseling to reduce stress. VAD recipients are medically monitored on a regular basis.

TREATMENT

People who require mechanical circulatory support of a VAD may require prolonged ventilation due to postoperative respiratory failure. Mobility is often limited due to multiple medical problems, life-support or monitoring equipment and weakness. These individuals may require physical therapy intervention, respiratory therapy, and cardiac rehabilitation on a case-by-case basis.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

• Clinical description of findings;

• Hospital admission and discharge summary;

• Operative report;

• Cardiology consultation;

• Imaging studies;

• EKG; and

• Echocardiography.

Suggested Listings for Evaluation:
DETERMINATION

LISTING

REMARKS
Meets
Equals 4.09 Documentation of 90 consecutive days or more of implanted VAD establishes listing-level medical equivalence of 4.09. Choose one-year diary from the date of surgical implantation of VAD. After one year following the date of surgical implantation, evaluate residual impairment(s).
104.09 Documentation of 90 consecutive days or more of implanted VAD establishes listing-level medical equivalence of 104.09. Choose one-year diary from the date of surgical implantation of VAD. After one year following the date of surgical implantation, evaluate residual impairment(s).
* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.580 Cardiac Amyloidosis - AL Type

 

COMPASSIONATE ALLOWANCE INFORMATION

CARDIAC AMYLOIDOSIS - AL TYPE

ALTERNATE NAMES

Light Chain Cardiac Amyloidosis; Cardiac Amyloidosis Light Chain Disease; Primary Cardiac Amyloidosis

DESCRIPTION

Cardiac Amyloidosis - AL type is a rare heart disease caused by deposits of abnormal protein (amyloid) in the heart tissue. These proteins slowly replace normal heart tissue causing the heart to become stiff. People with this disease often experience difficulties with the way in which electrical signals move through the heart conduction system. These electrical disturbances can lead to arrhythmias and heart block. Heart function also becomes reduced.

Adjudicators are reminded to not confuse Cardiac Amyloidosis- AL type with other types of amyloidosis with cardiac involvement (e.g. familial or senile age related transthyretin (ATTR) and secondary (AA) amyloidosis). These types of amyloidosis are also known as heavy chain amyloidosis. Although they can also affect the heart, their severity and progression are variable and must be evaluated on a case-by-case basis.

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

Diagnostic testing: The diagnosis of Cardiac Amyloidosis - AL type is made by:

• Chest or abdomen CT scan;

• Coronary Angiography;

• Echocardiogram;

• MRI; and

• Nuclear heart scans help diagnose cardiac amyloidosis light chain disease.

A tissue biopsy (not necessarily of the heart) confirms the diagnosis.

Physical findings: Symptoms and signs may be similar to what is seen in congestive heart failure and may include:

• Excessive fluid retention;

• Excessive urination at night;

• Fatigue;

• Heart palpitations;

• Shortness of breath with activity;

• Swelling of the legs and ankles; and

• Difficulty breathing while lying down.

ICD-9: 277.3 ; 427.x; 428.x

PROGRESSION

Cardiac Amyloidosis - AL type is a chronic condition that rapidly worsens. The median survival of persons diagnosed with this condition is about 1 year.

TREATMENT

Medical therapy of persons with Cardiac Amyloidosis – AL type is only of limited value. Heart transplantation may also be considered; and it usually increases life expectancy, although it is often less than that of other heart transplant recipients.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

• Clinical examination that describes the diagnostic features of cardiac involvement; and

• Tissue biopsy.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets
Equals 4.02

4.05

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

DI 23022.700 Child Lymphoma

COMPASSIONATE ALLOWANCE INFORMATION

CHILD LYMPHOMA

ALTERNATE NAMES

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

DESCRIPTION

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

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

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

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

• Anaplastic large cell lymphoma (ALDL)

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

Diagnostic testing: Diagnostic testing for child lymphoma includes:

• Physical examination;

• Blood and urine tests;

• Lymph node biopsy;

• Bone marrow aspirate and biopsy;

• Lumbar puncture;

• Removal of fluid from chest or abdomen for testing;

• X-rays;

• Ultrasound;

• Radionuclide bone scan; and

• MRI, CT, and PET scan.

Physical findings: Signs of childhood lymphoma may include:

• Breathing problems;

• Swollen lymph nodes;

• Wheezing;

• Coughing;

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

• Experience difficulties swallowing;

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

• Unexplained weight loss;

• Night sweats; and

• Fever.

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

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

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

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

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

PROGRESSION

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

TREATMENT

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

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

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

• Pathology/biopsy report of the cancer; and

• CT scan, MRI scan, or ultrasound reports.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

113.05 A 1

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

113.05 A 2

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

113.05 B 1

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

Equals

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

DI 23022.810 Skin Malignant Melanoma with Metastases

 

COMPASSIONATE ALLOWANCE INFORMATION

SKIN MALIGNANT MELANOMA

ALTERNATE NAMES

Cutaneous Melanoma; Metastatic Melanoma of the Skin; Skin Malignant Melanoma; Malignant Melanoma

DESCRIPTION

Skin Malignant Melanoma is a lethal form of skin cancer that may develop anywhere on a person’s body. It most often develops in areas that have had exposure to the sun, such as the back, neck, legs, arms, and face. However, it may occur in areas that do not receive much sun exposure, such as the soles of feet, palms of hands, and on fingernail beds. Skin Malignant Melanoma with Metastases occurs when the malignant tumor spreads to other parts of the body.

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

Diagnostic testing: A treating source may detect melanoma simply by looking at a person’s skin. However, a definitive diagnosis of malignant melanoma is a biopsy. After diagnosis, CT scans or other types of imaging may be done to determine if the cancer has spread to the lymph nodes or elsewhere in the body.

Physical findings: Individuals with skin malignant melanoma may present with:

• Unusual moles, sores, lumps, blemishes, markings, or changes on the skin;

• Sores that do not heal;

• Spread of pigment from the border of a spot into surrounding skin;

• Redness or a new swelling beyond the border of a mole;

• Changes in sensation on the skin, such as itchiness, tenderness, or pain; and

• Changes in the surface of the mole/skin such as itchiness or painful sensations, bleeding, scabs, crusty, inflammation, thickening of the skin, firm/raised center of a mole or spot on the skin, scaliness, oozing, bleeding, or the appearance of a lump or bump.

ICD-9: 172.0 - 172.9

PROGRESSION

The most dangerous aspect of malignant melanoma is its ability to spread (metastasize) to other parts of the body. Metastasis most often includes local or distant lymph nodes, brain, lungs, liver, and bone. The risk of developing malignant melanoma increases with age; however, it is also seen in young adults and children over 10 years of age. Survival rates are related to the stage of the melanoma. In its most advanced and lethal stage (Stage IV), melanoma has spread to the lymph nodes or organs, and is often incurable

TREATMENT

Treatment for early-stage melanoma usually includes surgery to remove the melanoma. Surgery represents the only potentially curative modality; therefore, adequate excision is important to lessen the risk of a local recurrence. Even if a local recurrence after initial surgery can be successfully managed, individuals with this condition may die from subsequent metastatic disease. Treatment of recurrent malignant melanoma after initial treatment depends on the stage of the original melanoma, the prior treatment, and the site of recurrence, and may include chemotherapy, immunotherapy, or radiation.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

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

• Pathology and biopsy reports of the cancer; and

• CT scan, MRI scan, or ultrasound reports.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

13.29 B 1

Skin malignant melanoma meets the criteria in listing 13.29 B 1 if it has metastases to clinically apparent lymph nodes; to at least four lymph nodes that are not clinically apparent; or to adjacent skin (for example, satellite lesions) or distant sites (for example, liver, lung, or brain).

13.29 B 2

Skin malignant melanoma meets the criteria in listing 13.29 B 2 if it has metastases to clinically apparent lymph nodes; to at least four lymph nodes that are not clinically apparent; or to adjacent skin (for example, satellite lesions) or distant sites (for example, liver, lung, or brain).

13.29 B 3

Skin malignant melanoma meets the criteria in listing 13.29 B 3 if it has metastases to clinically apparent lymph nodes; to at least four lymph nodes that are not clinically apparent; or to adjacent skin (for example, satellite lesions) or distant sites (for example, liver, lung, or brain).

113.29 B 1

Skin malignant melanoma meets the criteria in listing 113.29 B 1 if it has metastases to clinically apparent lymph nodes; to at least four lymph nodes that are not clinically apparent; or to adjacent skin (for example, satellite lesions) or distant sites (for example, liver, lung, or brain).
113.29 B 2 Skin malignant melanoma meets the criteria in listing 113.29 B 2 if it has metastases to clinically apparent lymph nodes; to at least four lymph nodes that are not clinically apparent; or to adjacent skin (for example, satellite lesions) or distant sites (for example, liver, lung, or brain).

113.29 B 3

Skin malignant melanoma meets the criteria in listing 113.29 B 3 if it has metastases to clinically apparent lymph nodes; to at least four lymph nodes that are not clinically apparent; or to adjacent skin (for example, satellite lesions) or distant sites (for example, liver, lung, or brain).

Equals

13.29 B

Cutaneous melanoma with a tumor thickness greater than 4 mm, up to 8 mm, medically equals 13.29 B if ulceration is present and the mitotic rate is equal to or greater than 5 mitoses/mm2. Cutaneous melanoma with a tumor thickness greater than 8 mm and a mitotic rate equal to or greater than 5 mitoses/mm2 medically equals 13.29 B, even if ulceration is not present.

113.29 B

Cutaneous melanoma with a tumor thickness greater than 4 mm, up to 8 mm, medically equals 113.29 B if ulceration is present and the mitotic rate is equal to or greater than 5 mitoses/mm2. Cutaneous melanoma with a tumor thickness greater than 8 mm and a mitotic rate equal to or greater than 5 mitoses/mm2 medically equals 113.29 B, even if ulceration is not present.
* 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 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

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.

113.13B

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 23022.937 Child Lymphoblastic Lymphoma

COMPASSIONATE ALLOWANCE INFORMATION

CHILD LYMPHOBLASTIC LYMPHOMA

ALTERNATE NAMES

DESCRIPTION

Child Lymphoblastic Lymphoma is a type of non-Hodgkin lymphoma of the lymphatic system. Child lymphoblastic lymphoma is similar in etiology to acute lymphoblastic leukemia because lymphoblasts infiltrate nodal structures of the bone marrow, spleen, and central nervous system. A difference in this disease is that the tumor may present as a lump in some part of the body, with the most common location being in the abdomen. Occasionally, it may present as a lump in a lymph gland, bone, skin, thyroid gland, or the tonsils.

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

Diagnostic testing: Diagnostic testing for child lymphoblastic lymphoma may include:

• Blood and urine tests;

• Surgical biopsy;

• Fine needle aspiration biopsy;

• Bone marrow aspiration and biopsy; and

• Imaging such as ultrasound, MRI, CT scan and PET scan.

Physical findings: Signs and symptoms of childhood lymphoblastic lymphoma may be different depending on the location of the tumors. Common symptoms may include:

• High fever for no known cause;

• Night sweats;

• Weight loss of more than 10% of body weight in a short period of time (within 6 months);

• Enlarged liver and kidney;

• Generalized weakness;

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

• Difficulty breathing;

• Wheezing; and

• Coughing.

ICD-9: 200.8

PROGRESSION

The childhood form of lymphoblastic lymphoma is a disease of rapid onset and progression. In most cases, the disease has progressed to an advanced stage (stage III or IV) by the time of diagnosis. The prognosis depends on histology (structure of the affected tissue); extent of the disease; presence or absence of metastasis; the child’s age; and response to therapy.

TREATMENT

Children with lymphoblastic lymphoma are treated with chemotherapy and radiation, usually following acute leukemia treatment protocols. Chemotherapy often includes intrathecal therapy (injection of chemotherapy into the spinal canal). Radioimmunotherapy is being researched as a possible treatment option.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

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

  • Pediatric oncology consultation reports;

  • Imaging studies;

  • Biopsy reports; and

  • Pathology reports.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

113.06 A

Must meet listing level 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 TN 21 - Processing Quick Disability Determination (QDD) and Compassionate Allowance (CAL) in the Disability Determination Services (DDS) - 12/28/2018