Identification Number:
DI 23022 TN 36
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. 36, 09/09/2020

Audience

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

Originating Component

ODP

Effective Date

Upon Receipt

Background

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

Summary of Changes

DI 23022.305 Small Cell Cancer of the Ovary

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

  • Added ICD-10 information

DI 23022.310 Small Cell Cancer of the Prostate

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

  • Added ICD-10 information

DI 23022.311 Small Cell Cancer of the Thymus

  • Updated table style;

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

  • Added ICD-10 information;

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

DI 23022.315 Small-Cell Cancer of the Female Genital Tract

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

  • Added ICD-10 information;

  • Updated spacing of bulleted lists in "Physical findings" and "Suggested MER for Evaluation" sections

DI 23022.320 Small Cell Lung Cancer

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

  • Added ICD-10 information;

  • Updated spacing of bulleted lists in "Physical findings" section

DI 23022.325 Small Intestine Cancer

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

  • Added ICD-10 information;

  • Updated spacing of bulleted lists in "Physical findings" and "Diagnostic testing" sections

DI 23022.326 Soft Tissue Sarcoma - with Distant Metastases or Recurrent

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

  • Added ICD-10 information;

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

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

DI 23022.335 Stomach Cancer

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

  • Added ICD-10 information;

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

  • Deleted sentence that was posted twice from "Suggested MER for Evaluation" section

DI 23022.337 Superficial Siderosis of the Central Nervous System

  • Added row with "Compassionate Allowance Information" heading;

  • Updated table style;

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

  • Added ICD-10 information;

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

  • Revised "Listings" to "the listings" in note to adjudicators

DI 23022.340 Anaplastic Thyroid Cancer

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

  • Added ICD-10 information

DI 23022.343 Tetrasomy 18p

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

  • Added ICD-10 information

DI 23022.345 Ureter Cancer

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

  • Added ICD-10 information

DI 23022.346 X-Linked Lymphoproliferative Disease

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

  • Added ICD-10 information;

  • Updated spacing of bulleted lists in "Physical findings" and "Diagnostic testing" sections

DI 23022.500 Spinocerebellar Ataxia

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

  • Added ICD-10 information

DI 23022.510 Tay Sachs Disease, Infantile Type

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

  • Added ICD-10 information

DI 23022.515 Thanatophoric Dysplasia, Type 1

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

  • Added ICD-10 information

DI 23022.525 Walker Warburg Syndrome

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

  • Added ICD-10 information;

  • Added "Physical findings" using information provided in "Description" section

DI 23022.530 Wolman Disease

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

  • Added ICD-10 information

DI 23022.535 Zellweger Syndrome

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

  • Added ICD-10 information

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

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

  • Added ICD-10 information;

  • Updated spacing of bulleted lists in "Diagnostic testing," "Physical findings," and "Suggested MER for Evaluation" sections

DI 23022.595 Tricuspid Atresia

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

  • Added ICD-10 information

DI 23022.895 Smith Lemli Opitz Syndrome

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

  • Added ICD-10 information;

  • Updated spacing of bulleted lists in "Physical findings" section

DI 23022.900 Spinal Nerve Root Cancer – metastatic or recurrent

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

  • Added ICD-10 information;

  • Updated spacing of bulleted lists in "Diagnostic testing," "Physical findings," and "Suggested MER for Evaluation" sections

DI 23022.915 Wolf-Hirschhorn Syndrome

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

  • Added ICD-10 information;

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

DI 23022.920 Xeroderma Pigmentosum

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

  • Added ICD-10 information;

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

DI 23022.987 Transplant Coronary Artery Vasculopathy

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

  • Added ICD-10 information;

  • Updated spacing of bulleted lists in "Diagnostic testing" and "Physical findings"

DI 23022.989 Usher Syndrome - Type I

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

  • Added ICD-10 information;

  • Updated spacing of bulleted list in "Physical findings"

DI 23022.305 Small Cell Cancer of the Ovary

COMPASSIONATE ALLOWANCE INFORMATION

SMALL CELL (OAT CELL) CANCER OF THE OVARY

ALTERNATE NAMES

Cancer of the Ovary; Small Cell Carcinoma of the Ovary; SCCO

DESCRIPTION

Small Cell Cancer of the Ovary is an extremely rare type of ovarian cancer that is distinguished from other ovarian epithelial and ovarian germ cell tumors. It is divided into two types, the hypercalcemic and the pulmonary type, of which the latter is extremely rare. Small cell cancer of the ovary tends to occur in young women (under 40 years of age).

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

Diagnostic testing: There is no standard or routine screening test for small cell cancer of the ovary. Pelvic exam, transvaginal ultrasound may detect ovarian cancer. Biopsy is the primary method of diagnosis and staging of the disease.

Physical findings: Symptoms of small cell cancer of the ovary are often subtle. They may include:

  • Persistent bloating or increased abdominal size;

  • Pelvic or abdominal pain;

  • Difficulty eating;

  • Urinary symptoms;

  • Fatigue;

  • Indigestion;

  • Back pain;

  • Constipation; and

  • Menstrual irregularities.

ICD-9: 789.51, 795.82

ICD-10: R97.1

PROGRESSION

Small Cell Cancer of the Ovary is a highly aggressive tumor. Metastatic tumor occurs mostly within the pelvis and abdomen, but hematogenous spread also occurs. Only one-third of patients with stage Ia disease have disease-free follow-up periods and almost all patients with higher stage tumors die of disease, usually within 2 years.

TREATMENT

The primary form of treatment for Small Cell Cancer of the Ovary is surgery with chemotherapy or radiotherapy, depending on the stage of the disease. Effective treatment of patients with high-stage tumors or recurrent disease has not been achieved; although rare, patients with high stage tumors have survived over 4 years after intensive chemotherapy, radiation therapy, or both.

SUGGESTED PROGRAMMATIC ASSESSMENT*
Suggested MER for Evaluation:
  • A pathology report of a biopsy specimen from the ovary showing small cell cancer. There is no substitute for pathology.

Suggested Listings for Evaluation:
DETERMINATION

LISTING

REMARKS
Meets 13.23 F Small Cell Cancer of the Ovary meets the criteria in 13.23 F with a diagnosis supported by biopsy.
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 23022.310 Small Cell Cancer of the Prostate

COMPASSIONATE ALLOWANCE INFORMATION

SMALL CELL (OAT CELL) CANCER OF THE PROSTATE

ALTERNATE NAMES

Cancer of the Prostate Gland; Prostatic Cancer; Prostatic Carcinoma; Small Cell Carcinoma (SCC) of the Prostate

DESCRIPTION

Small Cell Cancer of the Prostate is a rare cancer occurring less than 1% of all cancers of the prostate. They are aggressive tumors that often present at advanced stages or as metastatic diseases and are occasionally associated with paraneoplastic syndromes. Some small cell carcinomas represent recurrent tumors after hormonal therapy for conventional adenocarcinomas of the prostate. More commonly, small cell carcinoma is present as a component of mixed tumors, which also contain a component of conventional adenocarcinoma. Small cell carcinomas of the prostate are similar to the more common small cell carcinomas of the lung.

They are characterized by the following features:

  • Solid, sheet-like growth pattern, often with areas of tumor necrosis;

  • Small, round to spindle cells with scant cytoplasm, high nuclear/cytoplasmic ration and ill-defined borders;

  • Hyperchromatic nuclei with finely granular chromatin and nuclear molding;

  • Absent or inconspicuous nucleoli; and

  • High mitotic rate.

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

Diagnostic testing: Small cell carcinomas are often positive for NE markers chromogranin-A, synaptophysin and NSE although one or more of these markers may be negative in any given case. Like small cell carcinomas of the lung, tumor cells often show dot-like cytokeratin staining pattern and are often positive for TTF-1. In contrast to prostatic adenocarcinoma, tumor cells of small cell carcinoma are usually negative for androgen receptor and PSA but exceptions exist.

Physical findings: Small Cell Carcinoma of the Prostate presents as a solid growth pattern, which makes it difficult to separate from adenocarcinomas, however, immunohistochemical study can help in diagnosing this condition.

ICD-9: 185.0

ICD-10: C61

PROGRESSION

The progression of small cell carcinoma of the prostate is usually rapid and fatal.

TREATMENT

Hormonal therapy is not effective in treating small cell carcinoma of the prostate and neither is surgery. The general response to chemotherapy, the main form of therapy for small cell carcinoma, is some initial response but progressing to a rather rapid downhill course.

SUGGESTED PROGRAMMATIC ASSESSMENT*
Suggested MER for Evaluation:
  • A pathology report of a biopsy specimen from the prostate showing small cell histology. There is no substitute for pathology.

Suggested Listings for Evaluation:
DETERMINATION

LISTING

REMARKS
Meets 13.24 C Requires only pathology for adjudication.
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 23022.311 Small Cell Cancer of the Thymus

COMPASSIONATE ALLOWANCE INFORMATION

SMALL CELL (OAT CELL) CANCER OF THE THYMUS

ALTERNATE NAMES

Thymic Small Cell Carcinoma; Small Cell Carcinoma of the Thymus

DESCRIPTION

Small Cell Cancer of the Thymus is a rare aggressive type of cancer in which malignant cancer cells form on the outside surface of the thymus. The thymus is a small organ that is located behind the breast bone (sternum) in the front part of the mediastinum, the space in the chest between the lungs. This type of cancer is among the rarest cancer in humans, comprising of <1% of all adult cancers. The exact cause of this cancer is unknown. These cancers are often associated with autoimmune diseases (i.e. myasthenia gravis, polymyositis, lupus erythematous, rheumatoid arthritis, thyroiditis, Sjogren's syndrome and hypogammaglobulinemia).

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

Diagnostic testing :

  • Medical history and examination;

  • Imaging tests such as chest x-ray, CT scan and MRI scan;

  • PET scan;

  • Blood tests; or

  • Needle biopsy or surgical biopsy.

Physical findings : The thymus is located near the superior vena cava, the main blood vessel that brings blood from the head and upper body to the heart. Tumors that press on this vessel may cause:

  • Swelling in the face, neck, and upper chest;

  • People may have a bluish color on the upper body;

  • Swelling of the visible veins in the upper body;

  • Headaches; and

  • Reports of dizziness or light-headedness.

ICD-9: 164.0

ICD-10: C37

PROGRESSION

Small cell cancers of the thymus tend to grow fast and spread (metastasize) to other parts of the body and they have a high risk of recurrence. The prognosis is poor, as it is with all small-cell carcinomas.

TREATMENT

This type of cancer is generally treated with surgery to remove the tumor, radiation, and chemotherapy. Chemotherapy may be prescribed prior to surgical resection to shrink the size of the tumor.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

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

  • Pathology report of a biopsy or surgical specimen of the thymus showing small cell histology.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

113.03

Small Cell Cancer of the Thymus is rare in children.

13.15 C

Equals

 

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

DI 23022.315 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-CM/ICD-10-CM 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

ICD-10: C57.9

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 23022.320 Small Cell Lung Cancer

COMPASSIONATE ALLOWANCE INFORMATION

SMALL CELL LUNG CANCER

ALTERNATE NAMES

Small Cell Lung Carcinoma; Oat Cell Lung Cancer; Mixed Small Cell/Large Cell Lung Carcinoma; Combined Small Cell Lung Carcinoma

DESCRIPTION

There are two types of Lung Cancers: Small Cell and Non Small Cell. Small Cell Cancer of the Lung is an aggressive (fast-growing) cancer that forms in tissues of the lung and can spread to other parts of the body. Small cell lung cancer looks small and oval-shaped under a microscope.

Risk factors for small cell lung cancer include: smoking cigarettes, cigars or pipes, now or in the past, exposure to second-hand smoke and exposure to asbestos, or radon.

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

Diagnostic testing: The diagnosis of small cell lung cancer is confirmed by a pathologist using laboratory studies obtained by bronchoscopy or a CT-guided procedure (fine-needle biopsy). Specimens (stains) for chromogranin, neuron-specific enolase and synaptophysin are usually positive. Staging of the carcinoma is performed by imaging studies (CT scans, MRI, PET scans). These studies provide the information needed for staging at diagnosis, response to treatment, resectionability and metastases.

Physical findings:

  • Persistent cough;

  • Wheezing;

  • Hoarseness;

  • Hemoptysis (expectoration of blood or of blood-stained sputum);

  • Dyspnea (shortness of breath);

  • Chest pain;

  • Fatigue;

  • Decreased appetite; and

  • Weight loss.

ICD-9: 162.9

ICD-10: C34.90
PROGRESSION Although this disease is very responsive to chemotherapy, the overall survival rate is poor. Of those diagnosed with extensive small cell lung carcinoma (most patients) the 2 year survival rate is < 2%.

TREATMENT

Management of limited stage small cell lung carcinoma involves a combination of chemotherapy and thoracic radiation therapies. Treatment can involve either a single modality or a series of multiple modalities. If a complete remission is obtained, prophylactic cranial radiation is offered. At this level of treatment, the disease is potentially curable. However, most individuals are diagnosed with extensive disease and are generally considered incurable but may achieve remission with the use of a combination chemotherapy regimen.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation: A pathology report of a lung biopsy.
Suggested Listings for Evaluation:
DETERMINATION LISTINGS REMARKS
Meets

13.14 B

Small cell lung cancer currently meets the criteria in listing 13.14.
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 23022.325 Small Intestine Cancer

COMPASSIONATE ALLOWANCE INFORMATION

SMALL INTESTINE CANCER

ALTERNATE NAMES Small Intestine Adenocarcinoma; Small Intestine Sarcoma; Small Intestine Gastrointestinal Stromal Tumor; Small Intestine Carcinoid; Small Intestine Carcinoma

DESCRIPTION

Small Intestine Cancer forms in tissues of the small intestine. The most common type is adenocarcinoma. Most of these tumors occur in the part of the small intestine near the stomach. They may grow and block the intestine.

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

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

• Physical exam and history;

• Laboratory tests;

• X-rays;

• Barium enema;

• Fecal occult blood test (FOBT);

• Endoscopy;

• Biopsy;

• CT scan; and/or

• Surgery.

Physical findings: Physical findings for small intestine cancer may include:

• Blood in the stool (feces);

• Dark/black feces;

• Diarrhea;

• A lump in the abdomen;

• Pain or cramps in the abdomen;

• Unexplained weight loss; and

• Episodes of abdominal pain that may be accompanied by severe nausea or vomiting.

ICD-9: 152

PROGRESSION The overall 5-year survival rate for resectable adenocarcinoma is only 20%.

TREATMENT

Treatment may include surgery, radiation, biologic therapy, and/or chemotherapy.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:
  • A pathology report;

  • An operative report; or

  • A physician's opinion that indicates the cancer is inoperable or unresectable based on described objective findings.

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

LISTING

REMARKS
Meets 13.17 Small Intestine Cancer that is inoperable, unresectable, recurrent, or with distant metastases meets the criteria in listing 13.17.
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/ICD-10-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

ICD-10: C49

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; and

  • 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 23022.335 Stomach Cancer

COMPASSIONATE ALLOWANCE INFORMATION

STOMACH CANCER

ALTERNATE NAMES

Gastric Cancer; Gastric Carcinoma; Stomach Carcinoma

DESCRIPTION

Stomach Cancer forms in tissues lining the stomach. Age, diet, and stomach diseases can affect the risk of developing stomach cancer. In the early stages, the following symptoms may occur: indigestion and stomach discomfort, a bloated feeling after eating, mild nausea, loss of appetite, and/or heartburn. In more advanced stages, the following symptoms may occur: blood in the stool, vomiting, unintentional weight loss, stomach pain, jaundice, and/or trouble swallowing.

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

Diagnostic testing: The following may be used to diagnose the disease: physical exam and history, blood tests, endoscopy, fecal occult blood test (FOBT), barium swallow, biopsy, and/or CT scan.

Physical findings: Most symptoms of gastric cancer reflect advanced disease. Patients may complain of one or more of the following:

  • Indigestion;

  • Nausea;

  • Vomiting;

  • Dysphagia;

  • Postprandial fullness;

  • Loss of appetite;

  • Melena;

  • Hematemesis; and

  • Weight loss.

ICD-9: 151.9

ICD-10: C16.9

PROGRESSION

The progression of the disease depends on the stage and extent of the cancer, as well as the patient's general health. Stomach cancer is often in an advanced stage when diagnosed and is rarely cured.

TREATMENT

Treatment may include surgery, chemotherapy, radiation, or chemo-radiation. Treatment of Stage IV Gastric Cancer may include palliative chemotherapy, endoluminal laser therapy or endoluminal stent placement, palliative surgery, and/or a clinical trial of new combinations of chemotherapy.

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

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

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

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

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

LISTING

REMARKS
Meets 13.16 B Stomach Cancer that is inoperable, unresectable, recurrent, or with metastases meets the criteria in 13.16 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 23022.337 Superficial Siderosis of the Central Nervous System

COMPASSIONATE ALLOWANCE INFORMATION

SUPERFICIAL SIDEROSIS OF THE CENTRAL NERVOUS SYSTEM

ALTERNATE NAMES

Superficial Siderosis of the CNS; Superficial Hemosiderosis of the CNS; Superficial Hemosiderosis of the Central Nervous System

DESCRIPTION

Superficial Siderosis of the Central Nervous System (CNS) is a progressive disease of the central nervous system caused by the accumulation of hemosiderin (iron salt) deposits on the brain surface, spinal cord, or cranial nerves.

The hard iron salt deposits are created from chronic bleeding into the subarachnoid space or brain surface, underneath the three protective membranes. In most cases, the source of the bleeding is never located due to a considerable time delay before diagnosis. More than one bleed is required to cause superficial siderosis.

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

Diagnostic t esting: An MRI of the head, spinal cord or cranial nerves is needed to make the diagnosis of this disease. CT myelogram may assist with identifying leakage from a dural defect.

Physical f indings: Individuals with Superficial Siderosis of the CNS may have difficulty with:

  • Hearing;

  • Ability to smell and taste;

  • Balance;

  • Co-ordination and weakness of limbs;

  • Difficulty with bladder and bowel functions;

  • Eye movements;

  • Early dementia;

  • Bilateral sciatica; and

  • Pain in lower back and joints.

Other less common side effects include:

  • Transient ischemic accidents (TIA) or mini strokes;

  • Orthostatic headache;

  • Cognitive difficulties;

  • Loss of ability to hold one’s head up; and

  • Compression of gullet muscles.

ICD-9: 331.0

ICD-10: J63.4

PROGRESSION

Superficial Siderosis of the CNS progresses slowly over the course of decades. This disease affects people of a wide range of ages with men being diagnosed approximately three times more frequently than women. The number of reported cases of superficial siderosis has increased with advances in MRI technology, but it remains a rare disease.

TREATMENT

Treatment varies based on the underlying cause and severity of the condition and may include surgery and medications. If identified early in the diagnosis, ablating or plugging the cause of bleeding may help restrict further complications. The bleeds may be attributed to complications in the spine such as tumors or other similar problems.

Some other forms of medication such as iron chelators have been tried but have not definitely proven to be beneficial.

Some individuals may be at risk of developing dementia and are treated with folic acid in tablet form, or vitamin B, in daily tablet form or monthly injection.

To lessen the chance of a return of TIA’s or strokes various forms of medication are prescribed such as blood thinners and the traditional half of an aspirin a day.

For those experiencing permanent headaches, anti-depressants in mild doses are found to provide long-term relief, along with common medication such as Panadol.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

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

  • Results of MRI/CT scan of the brain surface, spinal cord, or cranial nerves.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

11.17

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 23022.340 Anaplastic Thyroid Cancer

COMPASSIONATE ALLOWANCE INFORMATION

ANAPLASTIC THYROID CANCER

ALTERNATE NAMES

Anaplastic Thyroid Carcinoma; Thyroid Cancer

DESCRIPTION

Cancer that forms in the thyroid gland (an organ at the base of the throat that makes hormones that help control heart rate, blood pressure, body temperature, and weight).

There are four main types of thyroid cancer based on how the cancer cells look under a microscope:

  • Papillary;

  • Follicular;

  • Medullary; and

  • Anaplastic (makes up for about 2% of all thyroid cancers).

It begins in the follicular cells of the thyroid. The cancer cells tend to grow and spread very quickly. Anaplastic thyroid cancer is very hard to control. Early Thyroid Cancer often does not have symptoms. As the cancer grows, symptoms may include:

  • A lump in the front of the neck;

  • Hoarseness or voice changes;

  • Swollen lymph nodes in the neck;

  • Trouble swallowing or breathing; and

  • Pain in the throat or neck that does not go away.

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

Diagnostic testing: Diagnostic testing should include:

  • A history and physical exam to detect growths or swelling in the lymph nodes;

  • Blood tests to detect abnormal levels of TSH;

  • Ultrasound to detect thyroid nodules that are too small to be felt;

  • Thyroid scan and biopsy.

A biopsy is the only sure way to diagnose Thyroid Cancer.

Physical findings: Firm cervical masses are highly suggestive of regional lymph node metastasis. Vocal fold paralysis implies involvement of the recurrent laryngeal nerve.

ICD-9: 193.0

ICD-10: C73

PROGRESSION

Anaplastic Thyroid Cancer makes up about 2% of all thyroid cancers. Median survival is usually 4-5 months from the time of diagnosis.

TREATMENT

People with thyroid cancer have many treatment options. Treatment usually begins within a few weeks after the diagnosis. The choice of treatment depends on the type of thyroid cancer (papillary, follicular, medullary, or anaplastic), the size of the nodule, the age of the individual, and whether the cancer has spread. Cancer may be treated with surgery, thyroid hormone treatment, radioactive iodine therapy, external radiation therapy, or chemotherapy. Most individuals receive a combination of treatments.

SUGGESTED PROGRAMMATIC ASSESSMENT*
Suggested MER for Evaluation:
  • The diagnosis of Anaplastic Thyroid Cancer is based on the pathology report from a thyroid biopsy specimen.

Suggested Listings for Evaluation:
DETERMINATION

LISTING

REMARKS
Meets 13.09 A Anaplastic Thyroid Cancer currently meets the criteria in 13.09 A.
Equals
* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested evaluating the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.343 Tetrasomy 18p

COMPASSIONATE ALLOWANCE INFORMATION

TETRASOMY 18p

ALTERNATE NAMES

Chromosome 18p Tetrasomy; Isochromosome 18p; Chromosome 18 Tetrasomy 18p; Tetrasomy Short Arm of Chromosome 18; 18p Isochromosome; 18p Tetrasomy

DESCRIPTION

Tetrasomy 18p is a chromosomal disorder that occurs when the short arm of chromosome 18 (18p) appears four times (tetrasomy) rather than the normal two times in cells of the body. This condition usually causes feeding difficulties in infancy, delayed development, intellectual disability that is often mild to moderate but can be severe, changes in muscle tone, distinctive facial features, and other birth defects. The signs and symptoms vary among affected individuals, and may include seizures, recurrent ear infections, mild to moderate hearing loss, gastrointestinal problems, and growth hormone deficiency.

The prognosis for persons with Tetrasomy 18p varies depending on the involved body system. However, degrees of cognitive impairment or intellectual disability are life-long. Psychiatric conditions, such as attention deficit hyperactivity disorder (ADHD) and anxiety, as well as social and behavioral challenges have also been reported.

Tetrasomy 18p is a rare disorder, known to affect about 250 families worldwide. It is usually not inherited, as most affected individuals have no history of the disorder in their family.

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

Diagnostic testing : The diagnosis of Tetrasomy 18p is made by physical examination and routine chromosome analysis from a blood sample, such as fluorescence in situ hybridization (FISH), and microarray analysis.

Physical findings : Children with Tetrasomy 18p may have:

  • Distinctive physical features;

  • Microcephaly;

  • Strabismus;

  • Scoliosis or kyphosis;

  • Hypotonia or hypertonia;

  • Spasticity; and

  • Birth defects affecting the heart and other organs.

Males with Tetrasomy 18p may be born with undescended testes (cryptorchidism) or hypospadias.

ICD-9: 758.89

ICD-10: Q99.8

PROGRESSION

Onset is congenital.

TREATMENT

Treatment of Tetrasomy 18p is symptomatic and supportive and requires ongoing routine care by a multidisciplinary team specializing in the care of children and adults with multiple system involvement. The treatment depends upon the clinical features present and may include evaluations by ophthalmology, otolaryngology and audiology, cardiology, orthopedics, neurology, endocrinology, and gastroenterology. Children may also benefit from referral for developmental services and specific medical treatment for congenital anomalies.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

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

  • Genetic testing;

  • Blood testing; and

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

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

12.05

Listing-level severity must be documented and evaluated under the most affected body systems.

110.08 B

Listing-level severity must be documented and evaluated under the most affected body systems.

111.07

Listing-level severity must be documented and evaluated under the most affected body systems.

112.04

Listing-level severity must be documented and evaluated under the most affected body systems.

112.05

Listing-level severity must be documented and evaluated under the most affected body systems.
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 23022.345 Ureter Cancer

COMPASSIONATE ALLOWANCE INFORMATION

URETER CANCER

ALTERNATE NAMES

Metastatic Transitional Cell Carcinoma of the Ureter (Stage IV); Squamous Cell Cancer of the Ureter; Squamous Cell Carcinoma of the Ureter; Adenocarcinoma of the Ureter; Ureter Carcinoma

DESCRIPTION

Ureter Cancer forms in transitional cells in the lining of the bladder, ureter, or renal pelvis. Transitional cells are cells that can change shape and stretch without breaking apart. Misuse of certain pain medications can affect the risk of developing transitional cell cancer of the renal pelvis or ureter.

Risk factors can include prolonged misuse of certain pain medications, smoking cigarettes, exposure to certain dyes and chemicals used in making leather goods, textiles, plastics, or rubber.

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

Diagnostic testing: The following tests may be used to diagnose the disease: physical exam and history, urinalysis, ureteroscopy, urine cytology, intravenous pyelogram (IVP), CT scan, and/or ultrasound.

Physical findings: Symptoms may include:

  • Blood in the urine;

  • Persistent back pain;

  • Extreme fatigue;

  • Unintentional weight loss; and/or

  • Painful or frequent urination.

ICD-9: 189.2

ICD-10: C66

PROGRESSION

Ureter Cancer usually affects men more often than women and is more common in people older than 65. The 5-year survival rate is 5% or less.

TREATMENT

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

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

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

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

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

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

LISTING

REMARKS
Meets 13.21 A or B Ureter Cancer that is inoperable, unresectable, recurrent, or with metastases meets 13.21 A or 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 23022.346 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/ICD-10-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

ICD-10: D82.3

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 23022.500 Spinocerebellar Ataxia

COMPASSIONATE ALLOWANCE INFORMATION

SPINOCEREBELLAR ATAXIA

ALTERNATE NAMES

SCA; Infantile-onset Spinocerebellar Ataxia; Autosomal Dominant Spinocerebellar Ataxia (ADSCA)

DESCRIPTION

Spinocerebellar Ataxia (SCA) refers to a group of genetic disorders characterized by slowly progressive difficulties with gait, hand movements, speech and abnormal eye movement. These disorders were previously known as autosomal dominant cerebellar ataxias (ADSCA). People with SCA have progressive damage in the areas of the brain that control movement in the arms, legs, hands, and eyes. When this type of brain damage occurs, the cells in the part of the brain that controls movement degenerate (atrophy) resulting in ataxia. The prevalence of SCA’s is estimated to be about 1-4/100,000.

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

Diagnostic testing : Genetic testing and MRI can distinguish genetic from acquired (non-genetic) causes of ataxia.

Physical findings : This disorder causes a slow progression of ataxia of gait, stance, limbs, and dysarthria (speech disturbance) with or without oculomotor (movement of the eyeball) dysfunction due to cerebellar degeneration.

ICD-9 : 334

ICD-10: G11.9
TREATMENT

There is currently no cure or treatment to slow the progression of SCA. Medications can help manage the symptoms (stiffness, depression, spasticity and sleep disorders). Occupational therapy can be helpful in developing ways to accommodate the individual in performing daily activities such as handwriting, buttoning, and use of eating utensils. Ambulatory aides such as canes, walkers and wheelchairs have been prescribed for gait ataxia. Speech therapy and/or computer-based devices for those with dysarthria and severe speech deficits.

PROGRESSION

The rate of progression for SCA varies with the gene mutation identified and, in general, is faster with earlier onset or increased length of the trinucleotide expansion repeat in those with this particular genetic finding. In SCA1, 2, and 3, time to becoming wheelchair dependent is 13-15 years and time to death is 20-30 years. The prognosis for SCA6 and SCA11 is less severe with a very slow worsening of symptoms, and persons with SCA8 and SCA11 have a normal lifespan.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Clinical examination that describes diagnostic features of the impairment;

  • Molecular genetic testing;

  • Clinical neurological examination;

  • If molecular genetic testing is not available, then a clinical neurological examination may be sufficient to establish a medical equals determination as long as all treatable causes of ataxia have been ruled out. It should be stated that a positive family history supports the diagnosis of a hereditary disorder but does not rule out an acquired, treatable disorder in a particular case.

Suggested Listings for Evaluation:

DETERMINATION LISTING

REMARKS

Meets

111.17

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 23022.510 Tay Sachs Disease, Infantile Type

COMPASSIONATE ALLOWANCE INFORMATION

TAY SACHS DISEASE, INFANTILE TYPE

ALTERNATE NAMES

Infantile-onset or infantile form TSD; Amaurotic Familial Idiocy; Amaurotic Familial Infantile Idiocy; Cerebromacular Degeneration; GM2 Gangliosidosis Type 1; GM2 Gangliosidosis (B variant); HexA deficiency; Hexosaminidase A deficiency; Hexosaminidase Alpha-Subunit Deficiency (Variant B); Infantile Cerebral Ganglioside; Infantile Cerebral Ganglioside Lipidosis; Tay-Sachs Sphingolipidosis; TSD; Sphingolipidosis, Tay-Sachs; B Variant GM2-Gangliosidosis; GM2 Gangliosidosis – Tay-Sachs; Lysosomal Storage Disease – Tay-Sachs Disease

DESCRIPTION

Tay-Sachs Disease, Infantile Type (TSD) is a rare, inherited disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. This disease occurs when the body lacks an enzyme called b-hexosaminidase A (HexA), which acts as a catalyst to help break down a chemical found in nerve tissue called ganglioside. Without this enzyme, gangliosides, and ganglioside GM2, build up in tissues and nerve cells in the brain. Mutations in the HEXA gene cause TSD, and infantile type TSD is the most common form. Infants with this disorder typically appear normal early in life, but after 6 months their development slows and the muscles used for motor skills such as turning over, sitting, and crawling deteriorate. Affected infants also develop an exaggerated startle reaction to loud noises. As the disease progresses, children with infantile TSD experience seizures, vision and hearing loss, intellectual disability and paralysis. Signs and symptoms of this disease includes: deafness, decreased eye contact, loss of muscle strength, delays of mental and social skills, progressive loss of cognitive and intellectual function (dementia), increased startle reaction, irritability, listlessness, loss of motor skills, paralysis, seizures, and slow growth. Children with infantile TSD often develop cherry red spots behind the retina, which is associated with gradual loss of vision.

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

Diagnostic testing: Chromosomal analysis showing mutations in the HEXA gene of chromosome 15.

Physical findings :

  • Low muscle tone;

  • Eye examination may reveal a cherry-red spot in the macula; and

  • Occasional macrocephaly.

ICD- 9 : 330.1

ICD-10: E75.02

PROGRESSION

Infantile type of TSD has onset at 4-6 months of age and progresses rapidly with expected death by age 4 or 5 from recurring infection.

TREATMENT

There is currently no known cure or treatment for TSD. Medical management of children with TSD is planned on a case-by-case basis and depends on the individual circumstances of the patient. Anticonvulsant medicine may initially control seizures. Other supportive treatment includes proper nutrition and hydration and techniques to keep the airway open. Children may eventually need a feeding tube.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Clinical examination including eye exam that describes diagnostic features of the impairment; and

  • Results of genetic chromosome testing or enzyme analysis.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

110.08

Infantile TSD meets listing severity; Juvenile -onset and adult-onset TSD have later onset and more variable course, and should be evaluated under the affected body systems (Special Senses, Neurological, and Mental).

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 23022.515 Thanatophoric Dysplasia, Type 1

COMPASSIONATE ALLOWANCE INFORMATION

THANATOPHORIC DYSPLASIA, TYPE 1

ALTERNATE NAMES

TD1; TDI; Dwarf, Thanatophoric; Thanatophoric Dwarfism; Thanatophoric Short Stature; TD type 1; TD type I

DESCRIPTION

Thanatophoric Dysplasia, Type 1 (TD1) is a severe skeletal disorder characterized by a normal-shaped skull, curved thigh bones and flattened bones of the spine (platyspondyly). The term thanatophoric is Greek for “death bearing”. Infants with TD1 are usually stillborn or die shortly after birth from respiratory failure; however, a few affected individuals have survived into childhood with extensive medical help. This disorder is caused by mutations in the FGFR3 gene. The gene provides instructions for making a protein that is involved in the development and maintenance of bone and brain tissue. Mutations in this gene cause the FGFR3 protein to be overly active, which leads to the severe disturbances in bone growth. This condition occurs in 1 in 20,000 to 50,000 newborns.

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

Diagnostic testing:

  • Clinical examination;

  • Prenatal ultrasound with findings of growth deficiency, ventriculomegaly, macrocephaly, well-ossified skull and spine, platyspondyly of the vertebrae, micromelia, bowed femurs, narrow chest cavity with shortened ribs and polyhydramnios; and

  • Molecular genetic testing of the gene FGFR3.

Physical findings:

  • Growth deficiency of limbs of less than 5%;

  • Bowed femurs;

  • Shortened ribs;

  • Platyspondyly of the vertebrae;

  • Macrocephaly;

  • Large anterior fontanel;

  • Frontal bossing;

  • Proptosis; and

  • Low nasal bridge.

ICD-9: 756.4

ICD-10: G71.13

PROGRESSION

Newborns with TD1 are stillborn or die shortly after birth. Very rare reports of survival into early childhood have been cited. Long-term survivors need neurologic, orthopedic, and audiologic evaluations, CT to monitor for craniocervical constriction, and EEG to monitor for seizure activity.

TREATMENT

Treatment measures of the few survivors may include: antiepileptic drugs to control seizures, shunt placement for hydrocephaly, suboccipital decompression for relief of craniocervical junction constriction, and hearing aids.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Clinical examination that describes diagnostic features of the impairment;

  • Audiologic evaluation;

  • Genetic testing; and

  • Imaging studies.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

110.08

Equals

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

DI 23022.525 Walker Warburg Syndrome

COMPASSIONATE ALLOWANCE INFORMATION

WALKER WARBURG SYNDROME

ALTERNATE NAMES

WWS; WWS Muscular Dystrophy; Warburg syndrome; Pagon Syndrome; Chemke Syndrome; Hydrocephalus, Agyria and Retinal Dysplasia; HARD +/- Syndrome; HARDE syndrome; Muscle-Eye-Brain disease; Cerebro-oculomuscular syndrome; Lissencephaly type II; Oculocerebral malformation

DESCRIPTION

Walker Warburg Syndrome (WWS) is a rare form of autosomal recessive CMD and is the most severe type of CMD. WWS is present at birth and results in fatal neurological lesions in the brain that are characterized by smoothness of the surface of the brain, thickening of the cortex and other brain abnormalities. Several genetic mutations occur in WWS: POMT1, POMT2 and fukutin protein.

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

Diagnostic testing: Laboratory tests showing elevated creatine kinase (CK), myopathic/dystrophic muscle pathology and altered a-dystroglycan. EMG showing myopathic changes in the brain. Genetic testing is definitive.

Physical findings: Symptoms include:

  • Hypotonia (weak muscle tone);

  • Muscle weakness;

  • Developmental delay with intellectual disability;

  • Occasional seizures;

  • Eye abnormalities (retinal detachment, cataracts, conjunctivitis) which lead to blindness;

  • Encephalocele; and

  • Cleft lip and cleft palate.

ICD-9: 359.0

PROGRESSION

WWS is the most severe form of the CMD with most children dying before age three. The few children who survive until 5 years of age have severe intellectual disability and delayed development.

TREATMENT

There is currently no cure for Walker Warburg Syndrome. Supportive care is the only form of treatment currently available.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:
  • Clinical examination including a description of physical findings;

  • Family history;

  • Genetic testing;

  • Electromyography or nerve conduction tests; and

  • Blood and enzyme tests.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

110.08

111.13

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 23022.530 Wolman Disease

COMPASSIONATE ALLOWANCE INFORMATION

WOLMAN DISEASE

ALTERNATE NAMES

Acid Lipase disease; Cholesterol Ester Storage disease; Acid Cholesterol Ester Hydrolase deficiency, Wolman Type; Lysosomal Acid Lipase deficiency, Wolman Type; Familial Xanthomatosis; Liposomal Acid Lipase Deficiency, Wolman Type; LAL Deficiency, Wolman Type

DESCRIPTION

Wolman disease is a type of autosomal recessive disorder caused by mutations of the lysosomal acid lipase (LIPA) gene. The disorder occurs when the enzyme needed to break down certain fats that are normally digested by the body is lacking or missing, resulting in the toxic buildup of these fats in the body’s cells and tissues. These fatty substances are called cholesterol esters (a transportable form of cholesterol that brings nutrients into the cells and carries out waste) and triglycerides (a chemical form in which fats exist in the body). Both male and female infants are affected by the disorder.

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

Diagnostic testing:

Diagnosis is made through:

  • Clinical examination;

  • Biopsy;

  • Genetic testing;

  • Molecular analysis of cells or tissue to identify inherited metabolic disorders; and

  • Enzyme assays (testing a variety of cells or body fluids in culture for enzyme deficiency).

In some forms of the disorder, a urine analysis can identify the presence of stored material.

Physical findings: Infants with the disorder appear normal at birth but quickly develop:

  • Progressive mental deterioration;

  • Low muscle tone;

  • Jaundice;

  • Anemia;

  • Vomiting;

  • Malnourishment;

  • Gastrointestinal problems;

  • Calcium deposits in the adrenal glands, causing them to harden;

  • Enlarged liver and grossly enlarged spleen (hepatosplenomegaly); and

  • Distended abdomen.

ICD-9 : 272.7

ICD-10: E78.0
PROGRESSION

Infants with Wolman disease usually die by age 1 from malnutrition.

TREATMENT

There is no specific treatment for Wolman disease. Certain drugs may be given to help with adrenal gland production, and children may need to be fed intravenously.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Clinical examination that describes diagnostic features of the impairment;

  • Description of physical findings;

  • Genetic testing reports; and

  • Blood and urine analysis.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

110.08

Equals

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

DI 23022.535 Zellweger Syndrome

COMPASSIONATE ALLOWANCE INFORMATION

ZELLWEGER SYNDROME

ALTERNATE NAMES

ZS; Peroxisomal Biogenesis Disorder (PBD); Zellweger Spectrum Syndrome (ZSS); Cerebro-hepato-renal Syndrome; CHR; ZWS; Zellweger leukodystrophy; Cerebrohepatorenal syndrome; PBD-ZSD; PDB, ZSS; peroxisome biogenesis disorders, Zellweger Syndrome Spectrum; Zellweger Spectrum; ZSD

DESCRIPTION

Zellweger syndrome (ZS) is a rare, hereditary disorder affecting infants and usually resulting in death. Mutations in the PEX1 gene cause ZS. ZS belongs to the Zellweger spectrum of peroxisome biogenesis disorders (PBD, ZSS) and is considered the most severe of the PBDs. Infants with this condition are significantly impaired and usually die during the first year of life, usually having made no developmental progress.

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

Diagnostic testing: Biochemical abnormalities that are found in the blood and/or urine should be confirmed in cultured fibro blasts. The tests are used to detect accumulation of very long chain fatty acids (VLCFA) levels. Bony stippling (chondrodysplasia punctata) may be present on radiological studies and this is suggestive of ZS in the proper clinical setting. MRI of the brain may identify hypomyelination, cortical gyral abnormalities, and germinolytic cysts that are highly suggestive of ZS. Molecular genetic testing for mutations in the PEX genes.

Physical findings: Some physical findings with this condition include:

  • Unusual problems in prenatal development; an enlarged liver (hepatomegaly);

  • High level of iron and copper in the blood;

  • Vision disturbances;

  • Poor muscle tone;

  • Difficulty sucking or swallowing;

  • Glaucoma;

  • Retinal degeneration;

  • Cataracts;

  • Corneal clouding;

  • Brushfield spots (gray or pale yellow spots that go around the sides of the iris);

  • Optic nerve hypoplasia;

  • Impaired hearing;

  • Characteristic facial appearance;

  • Seizures;

  • Inability to feed;

  • Liver cysts with hepatic (liver) dysfunction;

  • Chondrodysplasia punctata;

  • Normal to large head circumference;

  • Clubbed feet;

  • Thumb rotation; and

  • Stippled chondral calcification of the patella and acetabulum.

ICD-9: 277.86

ICD-10: E71.510

PROGRESSION

The prognosis for infants with ZS is poor. Most infants do not survive past the first 6 months, and usually death is the result of respiratory failure, gastrointestinal bleeding, or liver failure.

TREATMENT

There is no cure for ZS, nor is there a standard course of treatment. Since the metabolic and neurological abnormalities that cause the symptoms of Zellweger syndrome are present during fetal development, treatments to correct these abnormalities after birth will be limited. Most treatments are symptomatic and supportive and may include gastrostomy to provide adequate calories, hearing aids, cataract removal in infancy, glasses, vitamin supplements, primary bile acid therapy, anti-epileptic drugs and possibly monitoring for hyperoaluria, monitoring for coagulation factors and tests of liver function. Avoidance of cow’s milk products is recommended to reduce exposure to phytanic acid.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Clinical examination that describes diagnostic features of the impairment;

  • If available in the MER, Plasma VLCFA abnormalities as outlined above or mutations in the PEX genes confirm a diagnosis of one of the PBDs;

  • If such testing is not available, then a complete review of the clinical history, course, and laboratory studies on which the diagnosis is suspected will be needed for review; and

  • To differentiate the three PBDs and to evaluate the severity of the specific case, a complete physical and neurological examination.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

110.08 A

Equals

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

DI 23022.570 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/ICD-10-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

ICD-10: Z95.811

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 23022.595 Tricuspid Atresia

COMPASSIONATE ALLOWANCE INFORMATION

TRICUSPID ATRESIA

ALTERNATE NAMES

Tricuspid Valve Atresia; Tri atresia; Valve disorder – tricuspid atresia; Congenital heart – tricuspid atresia; Cyanotic heart disease – tricuspid atresia; Congenital agenesis of the tricuspid valve

DESCRIPTION

Tricuspid atresia is a rare type of congenital heart disease in which the tricuspid valve is missing, abnormally developed or blocked by a solid sheet of tissue. The defect blocks blood flow from the right atrium of the heart to the right ventricle of the heart. As a result, the right ventricle tends to be very small and underdeveloped (hypoplastic). When this type of defect occurs, the right side of the heart cannot properly pump blood to the lungs as it normally would. As a result, the lungs cannot supply the rest of the body with the oxygen that it needs. This type of blockage causes the blood to flow from the upper right chamber of the heart to the upper left chamber of the heart through a hole in the wall between them. This hole is either a heart defect (atrial septal defect) or an enlarged natural opening (foramen ovale) which is supposed to close soon after birth. If the infant does not have a hole through which the blood can flow, surgery may be needed to create an opening.

Some infants with tricuspid atresia also have a hole between the right ventricle and the left ventricle (ventricular septal defect), a condition, which will need to be medically monitored and may require surgical intervention.

Adults, who had corrective heart surgeries as infants, may develop problems with their heart functioning later in life. Over time, the surgical treatments that were used at infancy to repair the heart defect may leave scar tissue behind, increasing the chances of abnormal heart rhythm (arrhythmia), and of developing a focus for subacute endocarditis.

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

Diagnostic testing:

  • Echocardiogram;

  • ECG (electrocardiogram);

  • Imaging studies; and

  • Cardiac catheterization

Physical findings:

  • Cyanosis (bluish discoloration of the skin);

  • Tires easily especially during feeding;

  • Difficulty breathing, and

  • Slow growth;

  • Symptoms of heart failure including fatigue, swelling in the legs, ankles, feet, and abdomen;

  • Sudden weight gain from fluid retention; and

  • Irregular or rapid heartbeat.

ICD-9: 746.1

ICD-10: Q22.4

TREATMENT

Tricuspid atresia is treated with multiple staged surgical interventions and medications. Multiple surgical procedures will be required during the life of the individual.

PROGRESSION

A diagnosis of tricuspid atresia is usually made shortly after birth. Infants who survive to adulthood may have medical complications requiring multiple follow-up surgeries. Complications such as the formation of blood clots in the arteries of the lungs, strokes, complaints of fatigue, and heart rhythm abnormalities will require life style changes monitoring for infection and life-long follow-up with a cardiologist. If surgical interventions fail, then a heart transplant may be necessary.

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

  • Operative reports;

  • Cardiology consultation report;

  • Imaging studies; and

  • Laboratory reports.

Suggested Listings for Evaluation:
DETERMINATION

LISTING

REMARKS
Meets 4.02

4.06

104.06

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

 

DI 23022.895 Smith Lemli Opitz Syndrome

COMPASSIONATE ALLOWANCE INFORMATION

SMITH LEMLI OPITZ SYNDROME

ALTERNATE NAMES

SLO Syndrome; SLOS; RSH Syndrome; DHCR7 Deficiency; Smith-Lemli-Optiz Syndrome Type II

DESCRIPTION

Smith Lemli Opitz Syndrome (SLOS) is an inherited genetic disorder that results in an enzyme deficiency (7-dehydrocholesterol reductase, or 7-DHC reductase) necessary for cholesterol metabolism. Toxic byproducts of disrupted cholesterol synthesis build up in the blood, nervous system, and other tissues, disrupting the growth and development of many body systems. SLOS is characterized by multiple congenital malformations that are so severe that the fetus is often miscarried or still-born, or the infant dies within the first weeks of life. Surviving infants have dysmorphic facial features, microcephaly, toe abnormalities, and developmental delay. Many affected children have features of autism, and physical malformations of the heart, lungs, kidneys, gastrointestinal tract, and genitalia. Feeding difficulties and failure to thrive are common. Vision loss due to cataracts and optic nerve abnormalities, and hearing loss may also occur.

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

Diagnostic testing: A definitive diagnosis of SLOS is by the measurement of plasma sterols, including cholesterol and genetic testing for evidence of mutations in the DHCR7 gene.

Physical findings:

  • Microcephaly;

  • Characteristic facial features such as broad nose, small lower jaw, and low set ears; and

  • Hypotonia (floppy muscle tone).

These infants may also have:

  • Webbing of the second and third toes (syndactyly);

  • Extra fingers or toes (polydactyly);

  • Cleft palate;

  • Heart and lung defects;

  • Brain malformations; and

  • Hearing loss.

ICD-9: 272.8

ICD-10: E78.72

PROGRESSION

SLOS is a genetic condition that is present prior to birth but has signs that are so subtle that detection is not made until later childhood. Most cases identified at birth or shortly after birth are due to obvious birth defects. Mildly affected individuals may have only minor physical abnormalities with learning and behavior problems Some children with SLOS may have more severe intellectual impairments, multi-organ system failure, and behavior problems that can include antisocial, self-destructive, or violent acts; or withdrawal, self-stimulation, and autism.

TREATMENT

There is no current cure for SLOS. Treatment is supportive and may include surgery to repair physical conditions, such as heart defects, cleft palate, or foot deformities. Hearing aids may benefit those with hearing loss. Gastrostomy feeding may be necessary for nutritional needs.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

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

  • Laboratory findings;

  • Imaging studies of affected organs (brain, kidneys, heart, or lungs); and

  • Psychological testing with evidence of intellectual impairment.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

110.08 A

 

110.08 B

Equals

 

 

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

 

DI 23022.900 Spinal Nerve Root Cancer – metastatic or recurrent

COMPASSIONATE ALLOWANCE INFORMATION

SPINAL NERVE ROOT CANCER

ALTERNATE NAMES

Tumor- Spinal cord; Spinal Root Neoplasm; Spinal Cord Tumor

DESCRIPTION

Spinal Nerve Root Cancer is the growth of cancerous cells arising from the nerve roots rather than the spinal cord (part of the CNS) and usually occurs in the lumbar spine. Spinal Nerve Root Cancer that is metastatic or recurrent occurs when the malignant cancer cells have spread from the nerve roots to other parts of the body, and has come back after treatment. Symptoms of spinal nerve root cancer are related to compression of the nerve tissue or ceramic structures and may include non-mechanical back pain in the middle or lower back, loss of sensation or muscle weakness, difficulty walking, loss of bowel or bladder function, erectile dysfunction, varying degrees of paralysis, and scoliosis of other spinal deformity.

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

Diagnostic testing : Diagnostic testing used to confirm the diagnosis of spinal nerve root cancer includes:

  • MRI of lumbar spine;

  • CT scan or CT myelogram of the lumbar spine;

  • Cerebrospinal fluid (CSF) examination;

  • Myelogram; and

  • Spine x-ray.

A biopsy is used to help determine the grade of the cancer. A neurological examination may help to identify the location of the tumor.

Physical findings: A physical examination may show evidence of:

  • Abnormal reflexes;

  • Increased muscle tone;

  • Loss of pain and temperature sensation;

  • Muscle weakness; and

  • Tenderness in the spine.

ICD-9: 171.9

ICD-10: C47

PROGRESSION

The outcome of spinal nerve root cancer varies depending on the location, size, and extent (including metastases) of the cancer. Early diagnosis and treatment usually leads to a better outcome. Nerve damage often continues after surgery often leading to neurologic dysfunction. Although some amount of permanent dysfunction is likely, treatment may delay death.

TREATMENT

The goal of treatment is to reduce or prevent nerve damage from pressure (compression of) on the spinal cord. Corticosteroids are prescribed to reduce inflammation and swelling around the spinal cord. Surgery is used to remove as much of the tumor as possible and to relieve pressure on the spinal cord. Radiation including radiosurgery (SRS) therapy is used with, or instead, of surgery. Chemotherapy may be used in some cases, but it has not been proven effective against most spinal tumors.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • A pathology report; and

  • If a pathology report is unavailable, a report or radiological studies such as MRI and CT scans may provide the required information.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

13.13 B

Requires documented metastases or recurrence.

Equals

 

 

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

DI 23022.915 Wolf-Hirschhorn Syndrome

COMPASSIONATE ALLOWANCE INFORMATION

WOLF-HIRSCHHORN SYNDROME

ALTERNATE NAMES

WHS; Chromosome 4p Deletion Syndrome; Chromosome 4p Monosomy; Del(4p) Syndrome; Monosomy 4p; Partial Monosomy 4p; Pitt-Rogers-Danks Syndrome; PRDS

DESCRIPTION

Wolf-Hirschhorn Syndrome (WHS) is a genetic condition caused by loss of genetic material in the short arm of chromosome 4. The size of the deletion can vary among persons and determines the type and severity of the condition(s). The loss is associated with early deficits in physical and mental development.

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

Diagnostic testing: Diagnosis is based on characteristic clinical findings and confirmed by genetic testing showing deletion of the critical gene region (WHSCR).

Genetic testing may include cytogenetic analysis, molecular genetic testing and clinical testing (i.e. Fluorescence in situ hybridization (FISH)) deletion duplication analysis).

Physical findings:

  • Craniofacial defects (dysmorphic facial features);

  • Microcephaly;

  • Facial stigmata;

  • Prenatal-onset of growth deficiency followed by growth delay;

  • Hypotonia (floppy muscle tone); and

  • Muscle underdevelopment.

Other findings include:

  • Skeletal anomalies, such as scoliosis or kyphosis;

  • Congenital heart defects;

  • Conductive hearing loss;

  • Seizures;

  • Skin changes, such as mottled or dry skin;

  • Missing teeth;

  • Cleft palate or cleft lip; and

  • Abnormalities of the eyes, genitourinary tract, and brain have also been reported.

Delayed intellectual development is variable but present in all. Moderate to profound intellectual disability is estimated present in 85% of those affected. Expressive language is limited to guttural sounds and simple sentences.

ICD-9: 758.39

ICD-10: Q93.59

PROGRESSION

Delayed growth and development begins before birth. Affected infants have problems with feeding and weight gain (failure to thrive) and hypotonia. These children have delayed development in areas involving the ability to sit, stand, and walk. Most children with this disorder have a short stature.

TREATMENT

Treatment includes standard modalities for physical defects and special therapies directed toward developmental and communicative deficits. Gastrostomy may be needed in infancy to protect the airway of children with major feeding difficulty.

SUGGESTED PROGRAMMATIC ASSESSMENT*

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

  • Genetic laboratory findings are needed to confirm the diagnosis;

  • Imaging may show delayed bone maturation, anterior fusion of vertebrae, fused ribs, dislocated hips, proximoral radioulner synostosis, and club feet; and

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

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

110.08 B

 

Equals

 

 

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

DI 23022.920 Xeroderma Pigmentosum

 

COMPASSIONATE ALLOWANCE INFORMATION

XERODERMA PIGMENTOSUM

ALTERNATE NAMES

XP; DeSanctis-Cacchione Syndrome; Xeroderma Pigmentosum Variant Type; XP-V

DESCRIPTION

Xeroderma Pigmentosum is a rare inherited disorder characterized by extreme skin sensitivity to all forms of ultraviolet light, abnormal skin pigmentation, and a high frequency of skin cancer, especially on sun-exposed skin. Other characteristics of XP are eye problems (including photophobia, some disturbance in vision, and both malignant and non-malignant growths), neurological problems, and mental disorders.

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

Diagnostic testing : XP is diagnosed by genetic lab studies documenting chromosomal breakage and abnormal DNA repair in cells exposed to ultraviolet light.

Physical findings: Physical findings include:

  • Photosensitivity;

  • Clouding of the cornea;

  • Keratitis (inflammation of the cornea);

  • Blepharitis (inflammation of the eye lids);

  • Pigmentary changes;

  • Skin cancers;

  • Rough-surfaced growths (solar keratoses); and

  • Premature aging of eyes, lips, mouth, and tongue.

ICD-9: 757.33

ICD-10: Q82.1

PROGRESSION

Individuals with XP usually exhibit symptoms around six months of age. These symptoms include severe sunburn after a few minutes in the sun, redness and blistering that can last for weeks, and freckling of the skin exposed areas, such as face, arms, and lips. Skin cancer can occur before the age of five, with most people with XP developing multiple skin cancers during their lifetime. XP may result in death in early adulthood due to skin cancer.

TREATMENT

There is no cure for this condition. Persons with this condition require total protection from all forms of ultraviolet light (including sunlight coming through windows and fluorescent bulbs). The use of sunscreens with other sun-avoidance methods such as protective clothing, hats, and eyewear can minimize UV-induced damage for individuals with XP.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • A report from an acceptable medical source diagnosing XP with definitive genetic lab studies including UV-induced chromosomal changes with abnormal DNA repair, complementation studies, and gene sequencing; and

  • Skin biopsy.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

8.07

 

108.07

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 23022.987 Transplant Coronary Artery Vasculopathy

COMPASSIONATE ALLOWANCE INFORMATION

TRANSPLANT CORONARY ARTERY VASCULOPATHY

ALTERNATE NAMES

Transplant Cardiac Allograft Vasculopathy; Cardiac Transplant Vasculopathy

DESCRIPTION

Cardiac transplantation is a type of therapy used in the treatment of end-stage heart failure. Transplant Coronary Artery Vasculopathy (CAV) is the second most common cause of death after malignancy for individuals receiving a cardiac transplant.

Cardiac denervation at the time of heart transplantation usually prevents transplant patients from experiencing angina which is an important warning sign for heart disease. Because of this lack of early clinical symptoms, transplant patients with CAV typically present late with silent myocardial infarction, loss of allograft function or sudden death.

Due to diffuse nature of intimal thickening in CAV, coronary angiography is not as sensitive and accurate as it is in native coronary artery disease (CAD).

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

Diagnostic testing:

  • Intravascular ultrasonography (IVUS) is used to detect early coronary artery vasculopathy;

  • Coronary angiogram;

  • Dobutamine stress echocardiography;

  • Single proton emission CT (SPECT); and

  • Multidetector CT.

Physical findings:

  • Heart failure;

  • Dangerous changes in heart rhythm (arrhythmias);

  • Sudden cardiac arrest;

  • Non-specific graft failure;

  • Multi-organ failure;

  • Acute rejection;

  • Infection;

  • Generalized swelling (edema);

  • General discomfort or ill feeling; and

  • Pain or swelling in the chest close to the heart.

Immunosuppressive medications such as cyclosporine and corticosteroids that are used to treat transplant CAV, may contribute to endothelial cell injury and intimal hyperplasia (thickening of inner lining of coronary artery walls).

ICD-9: 414.06; 414.07

ICD-10: T86.290
PROGRESSION

Although the progression of transplant CAV is variable, generally the course is progressive with limited therapeutic options.

TREATMENT

The disease process of transplant coronary artery vasculopathy is progressive and generally unresponsive to treatment. Revascularization is effective palliative therapy; retransplantation offers a more definitive solution but is limited by organ shortages.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

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

  • Cardiology consultation reports; and

  • Imaging studies of the heart and blood laboratory testing.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

4.02

Listing level severity must be documented.

4.04

Listing level severity must be documented.

4.05

Listing level severity must be documented.

Equals

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

 

DI 23022.989 Usher Syndrome - Type I

COMPASSIONATE ALLOWANCE INFORMATION

USHER SYNDROME - TYPE I

ALTERNATE NAMES

Usher Syndrome I; Usher Disease; Usher-Hallgren Syndrome; Halgren Disease; RP-Dysacusis Syndrome; Dystropia Retinae Dysacusis Disease; Graefe-Usher Syndrome; Retinitis Pigmentosa Deafness Syndrome

DESCRIPTION

Usher Syndrome Type I is an inherited disease that causes deafness, balance problems, and retinitis pigmentosa, an eye disorder that causes progressive vision loss. There are three types of Usher syndrome, with Type I being the most severe. Usher syndrome is caused by mutations in the CDH23, MYO7A, USH1C, and USH1G genes.

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

Diagnostic testing : The diagnosis of Usher syndrome is usually determined through hearing, balance, and vision testing. Age-appropriate audiologic testing is used to evaluate hearing loss. Evaluation of the eyes may include visual field tests to measure peripheral vision; electroretinogram (ERG) to measure the electrical response of the eye’s light sensitive cells; and retinal examination to observe the retina and other structures in the back of the eye. An electronystagmogram (ENG) measures involuntary eye movement that may be associated with balance problems.

Physical findings:

  • Progressive degeneration of the retina;

  • Motor delays; and

  • Balance problems on neuromuscular examination.

ICD-9: 362.74

ICD-10: H35.53

PROGRESSION

Children with Usher syndrome - Type I are profoundly deaf at birth. Vestibular balance problems generally present by 18 months of age, with difficulties in sitting without support and then delays in walking ability. Vision loss caused by retinitis pigmentosa begins in early childhood, with rapid progression until the child becomes completely blind, usually within the first decade of life.

TREATMENT

There is no cure for this condition. Children with this disorder obtain little or no benefit from hearing aids, and are candidates for cochlear implants. Intervention strategies such as Braille instruction, low vision services or auditory training can help to improve the child’s quality of life.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

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

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

  • Documentation of structural changes to the eye with an evaluation of visual acuity and visual fields.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

2.02 A or B

Most allowances will be based on meeting either the Hearing or Vision loss listings; although molecular genetic testing results may be included in the medical information, obtaining this genetic testing is not necessarily required for adjudication.

2.03 A or B or C

2.07 A and B

2.10 A or B

2.11 A or B

102.02 A or B

102.03 A or B or C

102.10 A or B

102.11 A or B

Equals

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

DI 23022 TN 36 - Processing Quick Disability Determination (QDD) and Compassionate Allowance (CAL) in the Disability Determination Services (DDS) - 9/09/2020