Identification Number:
DI 23022 TN 19
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:All Programs
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. 19, 12/03/2018

Audience

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

Originating Component

ODP

Effective Date

Upon Receipt

Background

This transmittal contains updates POMS sections DI 23022.350 through DI 23022.635. Revisions include updates to the content to comply with the Social Security Administration’s plain language initiative and updates to policy guidance.

 

Summary of Changes

DI 23022.350 Alstrom Syndrome

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

• Updated headings,

• Provided information about physical findings found with condition,

• Updated the “Suggested MER for Evaluation” section,

• Updated the “Suggested Listings for Evaluation” section,

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

• Removed last updated information,

• Removed component identifying information,

• Updated “Alternate Names” section,

• Updated “Description” section,

• Updated “Diagnostic Testing, Physical Findings, and ICD-9-CM Coding” section, and

• Updated “Progression” section .

 

DI 23022.355 Amegakaryocytic Thrombocytopenia

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

• Updated headings,

• Provided information about physical findings found with condition,

• Updated the “Suggested MER for Evaluation” section,

• Updated the “Suggested Listings for Evaluation” section,

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

• Removed last updated information,

• Removed component identifying information, and

• Updated “Alternate Names” section.

 

DI 23022.370 Bilateral Retinoblastoma

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

• Updated headings,

• Provided information about physical findings found with condition,

• Updated the “Suggested MER for Evaluation” section,

• Updated the “Suggested Listings for Evaluation” section,

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

• Removed last updated information,

• Removed component identifying information,

• Updated “Description” section, and

• Updated “Diagnostic Testing, Physical Findings, and ICD-9-CM Coding” section

 

DI 23022.375 Cri du Chat Syndrome

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

• Updated headings,

• Provided information about physical findings found with condition,

• Updated the “Suggested MER for Evaluation” section,

• Updated the “Suggested Listings for Evaluation” section,

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

• Removed last updated information,

• Removed component identifying information,

• Updated “Alternate Names” section,

• Updated “Diagnostic Testing, Physical Findings, and ICD-9-CM Coding” section,

• Updated “Treatment” section.

 

DI 23022.380 Degos Disease, Systemic

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

• Updated headings,

• Provided information about physical findings found with condition,

• Updated the “Suggested MER for Evaluation” section,

• Updated the “Suggested Listings for Evaluation” section,

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

• Removed last updated information,

• Removed component identifying information,

• Updated POMS title,

• Updated “Alternate Names” section, and

• Updated “Diagnostic Testing, Physical Findings, and ICD-9-CM Coding” section.

 

DI 23022.390 Edwards Syndrome (Trisomy 18)

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

• Updated headings,

• Provided information about physical findings found with condition,

• Updated the “Suggested MER for Evaluation” section,

• Updated the “Suggested Listings for Evaluation” section,

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

• Removed last updated information,

• Removed component identifying information, and

• Updated “Diagnostic Testing, Physical Findings, and ICD-9-CM Coding” section.

 

DI 23022.395 Fibrodysplasia Ossificans Progressiva

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

• Updated headings,

• Provided information about physical findings found with condition,

• Updated the “Suggested MER for Evaluation” section,

• Updated the “Suggested Listings for Evaluation” section,

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

• Removed last updated information,

• Removed component identifying information,

• Updated “Description” section, and

• Updated “Diagnostic Testing, Physical Findings, and ICD-9-CM Coding” section.

 

DI 23022.405 Hemophagocytic Lymphohistiocytosis

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

• Updated headings,

• Provided information about physical findings found with condition,

• Updated the “Suggested MER for Evaluation” section,

• Updated the “Suggested Listings for Evaluation” section,

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

• Removed last updated information,

• Removed component identifying information,

• Updated “Alternated Names” section,

• Updated “Description” section,

• Updated “Diagnostic Testing, Physical Findings, and ICD-9-CM Coding” section,

• Updated “Treatment” section, and

• Updated “Progression” section.

 

DI 23022.410 Hunter Syndrome

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

• Updated headings,

• Provided information about physical findings found with condition,

• Updated the “Suggested MER for Evaluation” section,

• Updated the “Suggested Listings for Evaluation” section,

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

• Removed last updated information,

• Removed component identifying information,

• Updated POMS title, and

• Updated “Alternate Names” section.

 

DI 23022.415 Hurler Syndrome

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

• Updated headings,

• Provided information about physical findings found with condition,

• Updated the “Suggested MER for Evaluation” section,

• Updated the “Suggested Listings for Evaluation” section,

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

• Removed last updated information,

• Removed component identifying information, and

  • Updated POMS title.

DI 23022.420 Idiopathic Pulmonary Fibrosis

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

• Updated headings,

• Provided information about physical findings found with condition,

• Updated the “Suggested MER for Evaluation” section,

• Updated the “Suggested Listings for Evaluation” section,

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

• Removed last updated information,

• Removed component identifying information,

• Updated “Alternate Names” section, and

• Updated “Description” section.

 

DI 23022.430 Junctional Epidermolysis Bullosa Lethal Type

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

• Updated headings,

• Provided information about physical findings found with condition,

• Updated the “Suggested MER for Evaluation” section,

• Updated the “Suggested Listings for Evaluation” section,

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

• Removed last updated information,

• Removed component identifying information,

• Updated POMS title,

• Updated “ Alternate Names” section, and

• Updated “Diagnostic Testing, Physical Findings, and ICD-9-CM Coding” section.

 

DI 23022.440 Leigh's Disease

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

• Updated headings,

• Provided information about physical findings found with condition,

• Updated the “Suggested MER for Evaluation” section,

• Updated the “Suggested Listings for Evaluation” section,

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

• Removed last updated information,

• Removed component identifying information,

• Updated “Alternate Names” section,

• Updated “Description” section, and

• Updated “Diagnostic Testing, Physical Findings, and ICD-9-CM Coding” section.

 

DI 23022.460 Mucosal Melanoma

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

• Updated headings,

• Provided information about physical findings found with condition,

• Updated the “Suggested MER for Evaluation” section,

• Updated the “Suggested Listings for Evaluation” section,

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

• Removed last updated information,

• Removed component identifying information,

• Updated POMS title,

• Updated “Alternate Names” section , and

• Updated “Description” section.

 

DI 23022.465 Neonatal Adrenoleukodystrophy

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

• Updated headings,

• Provided information about physical findings found with condition,

• Updated the “Suggested MER for Evaluation” section,

• Updated the “Suggested Listings for Evaluation” section,

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

• Removed last updated information,

• Removed component identifying information,

• Updated “Alternate Names” section,

• Updated “Description” section, and

• Updated “Diagnostic Testing, Physical Findings, and ICD-9-CM Coding” section.

 

DI 23022.470 (Neonatal) Glutaric Acidemia

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

• Updated headings,

• Provided information about physical findings found with condition,

• Updated the “Suggested MER for Evaluation” section,

• Updated the “Suggested Listings for Evaluation” section,

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

• Removed last updated information,

• Removed component identifying information, and

• Updated “Alternate Names” section.

 

DI 23022.475 Niemann-Pick Type C

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

• Updated headings,

• Provided information about physical findings found with condition,

• Updated the “Suggested MER for Evaluation” section,

• Updated the “Suggested Listings for Evaluation” section,

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

• Removed last updated information,

• Removed component identifying information,

• Updated POMS title,

• Updated “Alternate Names” section,

• Updated “Description” section, and

• Updated “Diagnostic Testing, Physical Findings, and ICD-9-CM Coding” section.

 

DI 23022.480 Patau Syndrome (Trisomy 13)

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

• Updated headings,

• Provided information about physical findings found with condition,

• Updated the “Suggested MER for Evaluation” section,

• Updated the “Suggested Listings for Evaluation” section,

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

• Removed last updated information,

• Removed component identifying information,

• Updated “Alternate Names” section,

• Updated “Description” section, and

• Updated “Diagnostic Testing, Physical Findings, and ICD-9-CM Coding” section.

 

DI 23022.485 Primary Progressive Aphasia

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

• Updated headings,

• Provided information about physical findings found with condition,

• Updated the “Suggested MER for Evaluation” section,

• Updated the “Suggested Listings for Evaluation” section,

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

• Removed last updated information,

• Removed component identifying information,

• Updated “Alternate Names” section,

• Updated “Description” section, and

• Updated “Diagnostic Testing, Physical Findings, and ICD-9-CM Coding” section.

 

DI 23022.495 Sanfilippo Syndrome

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

• Updated headings,

• Provided information about physical findings found with condition,

• Updated the “Suggested MER for Evaluation” section,

• Updated the “Suggested Listings for Evaluation” section,

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

• Removed last updated information,

• Removed component identifying information,

• Updated POMS title,

• Updated “Description” section, and

• Updated “Diagnostic Testing, Physical Findings, and ICD-9-CM Coding” section.

 

DI 23022.500 Spinocerebellar Ataxia

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

• Updated headings,

• Provided information about physical findings found with condition,

• Updated the “Suggested MER for Evaluation” section,

• Updated the “Suggested Listings for Evaluation” section,

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

• Removed last updated information,

• Removed component identifying information, and

• Updated “Diagnostic Testing, Physical Findings, and ICD-9-CM Coding” section.

 

DI 23022.510 Tay Sachs Disease, Infantile Type

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

• Updated headings,

• Provided information about physical findings found with condition,

• Updated the “Suggested MER for Evaluation” section,

• Updated the “Suggested Listings for Evaluation” section,

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

• Removed last updated information,

• Removed component identifying information, and

  • Updated “Alternate Names” section.

 

DI 23022.515 Thanatophoric Dysplasia, Type 1

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

• Updated headings,

• Provided information about physical findings found with condition,

• Updated the “Suggested MER for Evaluation” section,

• Updated the “Suggested Listings for Evaluation” section,

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

• Removed last updated information,

• Removed component identifying information,

• Updated “Alternate Names” section, and

• Updated “Diagnostic Testing, Physical Findings, and ICD-9-CM Coding” section.

 

DI 23022.530 Wolman Disease

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

• Updated headings,

• Provided information about physical findings found with condition,

• Updated the “Suggested MER for Evaluation” section,

• Updated the “Suggested Listings for Evaluation” section,

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

• Removed last updated information,

• Removed component identifying information,

• Updated “Alternate Names” section,

• Updated “Description” section, and

• Updated “Diagnostic Testing, Physical Findings, and ICD-9-CM Coding” section.

 

DI 23022.535 Zellweger Syndrome

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

• Updated headings,

• Provided information about physical findings found with condition,

• Updated the “Suggested MER for Evaluation” section,

• Updated the “Suggested Listings for Evaluation” section,

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

• Removed last updated information,

• Removed component identifying information,

• Updated “Alternate Names” section,

• Updated “Description” section, and

• Updated “Diagnostic Testing, Physical Findings, and ICD-9-CM Coding” section.

 

DI 23022.540 Aortic Atresia

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

• Updated headings,

• Provided information about physical findings found with condition,

• Updated the “Suggested MER for Evaluation” section,

• Updated the “Suggested Listings for Evaluation” section,

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

• Removed last updated information,

• Removed component identifying information,

• Updated “Description” section,

• Updated “Diagnostic Testing, Physical Findings, and ICD-9-CM Coding” section, and

• Updated “Treatment” section.

 

DI 23022.545 Eisenmenger Syndrome

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

• Updated headings,

• Provided information about physical findings found with condition,

• Updated the “Suggested MER for Evaluation” section,

• Updated the “Suggested Listings for Evaluation” section,

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

• Removed last updated information,

• Removed component identifying information,

• Updated “Alternate Names” section,

• Updated “Description” section, and

• Updated “Diagnostic Testing, Physical Findings, and ICD-9-CM Coding” section.

 

DI 23022.550 Endomyocardial Fibrosis

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

• Updated headings,

• Provided information about physical findings found with condition,

• Updated the “Suggested MER for Evaluation” section,

• Updated the “Suggested Listings for Evaluation” section,

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

• Removed last updated information,

• Removed component identifying information,

• Updated “Alternate Names” section,

• Updated “Description” section, and

• Updated “Diagnostic Testing, Physical Findings, and ICD-9-CM Coding” section.

 

DI 23022.555 Heart Transplant Graft Failure

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

• Updated headings,

• Provided information about physical findings found with condition,

• Updated the “Suggested MER for Evaluation” section,

• Updated the “Suggested Listings for Evaluation” section,

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

• Removed last updated information,

• Removed component identifying information,

• Updated “Description” section, and

• Updated “Diagnostic Testing, Physical Findings, and ICD-9-CM Coding” section.

 

DI 23022.560 Heart Transplant Wait List 1A/1B

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

• Updated headings,

• Provided information about physical findings found with condition,

• Updated the “Suggested MER for Evaluation” section,

• Updated the “Suggested Listings for Evaluation” section,

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

• Removed last updated information,

• Removed component identifying information, and

• Updated “Diagnostic Testing, Physical Findings, and ICD-9-CM Coding” section.

 

DI 23022.565 Hypoplastic Left Heart Syndrome

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

• Updated headings,

• Provided information about physical findings found with condition,

• Updated the “Suggested MER for Evaluation” section,

• Updated the “Suggested Listings for Evaluation” section,

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

• Removed last updated information,

• Removed component identifying information,

• Updated “Alternate Names” section, and

• Updated “Diagnostic Testing, Physical Findings, and ICD-9-CM Coding” section.

 

DI 23022.575 Mitral Valve Atresia

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

• Updated headings,

• Provided information about physical findings found with condition,

• Updated the “Suggested MER for Evaluation” section,

• Updated the “Suggested Listings for Evaluation” section,

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

• Removed last updated information,

• Removed component identifying information,

• Updated “Alternate Names” section, and

• Updated “Diagnostic Testing, Physical Findings, and ICD-9-CM Coding” section.

 

DI 23022.585 Pulmonary Atresia

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

• Updated headings,

• Provided information about physical findings found with condition,

• Updated the “Suggested MER for Evaluation” section,

• Updated the “Suggested Listings for Evaluation” section,

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

• Removed last updated information,

• Removed component identifying information,

• Updated “Diagnostic Testing, Physical Findings, and ICD-9-CM Coding” section, and

• Updated “Progression” section.

 

DI 23022.590 Single Ventricle

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

• Updated headings,

• Provided information about physical findings found with condition,

• Updated the “Suggested MER for Evaluation” section,

• Updated the “Suggested Listings for Evaluation” section,

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

• Removed last updated information,

• Removed component identifying information,

• Updated “Alternate Names” section, and

• Updated “Diagnostic Testing, Physical Findings, and ICD-9-CM Coding” section.

 

DI 23022.595 Tricuspid Atresia

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

• Updated headings,

• Provided information about physical findings found with condition,

• Updated the “Suggested MER for Evaluation” section,

• Updated the “Suggested Listings for Evaluation” section,

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

• Removed last updated information,

• Removed component identifying information,

• Updated “Alternate Names” section,

• Updated “Description” section, and

• Updated “Diagnostic Testing, Physical Findings, and ICD-9-CM Coding” section.

 

DI 23022.615 Lowe Syndrome

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

• Updated headings,

• Provided information about physical findings found with condition,

• Updated the “Suggested MER for Evaluation” section,

• Updated the “Suggested Listings for Evaluation” section,

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

• Removed last updated information,

• Removed component identifying information,

• Updated “Alternate Names” section,

• Updated “Description” section, and

• Updated “Diagnostic Testing, Physical Findings, and ICD-9-CM Coding” section.

 

DI 23022.635 Paraneoplastic Pemphigus

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

• Updated headings,

• Provided information about physical findings found with condition,

• Updated the “Suggested MER for Evaluation” section,

• Updated the “Suggested Listings for Evaluation” section,

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

• Removed last updated information,

• Removed component identifying information,

• Updated “Description” section, and

• Updated “Diagnostic Testing, Physical Findings, and ICD-9-CM Coding” section.

DI 23022.350 Alstrom Syndrome

COMPASSIONATE ALLOWANCE INFORMATION

ALSTROM SYNDROME

ALTERNATE NAMES

ALMS; ALMS1; Alstrom-Halgren Syndrome; Alstrom syndrome 1; Alström syndrome; Alstrom’s syndrome; AS

DESCRIPTION

Alstrom syndrome is a rare condition that affects many body systems. Alstrom syndrome is characterized by a progressive loss of vision and hearing, a form of heart disease that enlarges and weakens the heart muscle (dilated cardiomyopathy), obesity, type 2 diabetes (the most common form of diabetes), and short stature. This disorder can also cause serious or life-threatening medical problems involving the liver, kidneys, bladder, and lungs. Some individuals with Alstrom syndrome have a skin condition called acanthosis nigricans, which causes the skin in body folds and creases to become thick, dark, and velvety. The signs and symptoms of Alstrom syndrome vary in severity, and not all affected individuals have all of the characteristic features of the disorder. Alstrom syndrome is caused by mutations of the ALMS1 gene (2p13.1).

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

Diagnostic testing: The diagnosis of Alstrom syndrome is made based on the clinical findings (signs and symptoms), medical history, and family history. Making a diagnosis is complicated by the variation in age of symptom onset from one individual to another. Genetic testing is not necessary to make the diagnosis of Alstrom syndrome, although it can be useful to confirm a diagnosis.

Other diagnostic tests include:

  • Vision tests;

  • Hearing tests;

  • Heart function testing;

  • Blood and urine testing for liver dysfunction and renal failure; and

  • Blood sugar levels to diagnose hyperglycemia, thyroid function, and triglyceride levels.

Physical findings: Individuals with Alstrom syndrome may have:

  • Cone-rod dystrophy;

  • Hearing loss;

  • Childhood truncal obesity;

  • Insulin resistance and hyperinsulinemia;

  • Type 2 diabetes;

  • Hypertriglyceridemia;

  • Short stature in adulthood;

  • Cardiomyopathy; and

  • Progressive pulmonary, hepatic, and renal dysfunction.

ICD-9: 759.89

TREATMENT

There is no cure for this condition. There is treatment for the symptoms of diabetes, hearing and visual aids, heart medications, and thyroid hormone replacement.

PROGRESSION

Alstrom syndrome causes serious or life-threatening medical problems involving the liver, kidneys, bladder, and lungs. Many of the signs and symptoms of this condition begin in infancy or early childhood, although some appear later in life. Some children may experience delays in attaining developmental milestones, but intelligence is usually unaffected. Not all affected individuals have all of the characteristic features of the disorder.

Individuals with this condition are likely to develop:

  • Deafness,

  • Blindness,

  • Complications from diabetes,

  • Worsening of kidney and liver function, and

  • Developmental delays.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

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

  • Blood and urine tests;

  • Thyroid function studies;

  • Eye examinations;

  • Hearing examinations; and

  • Genetic testing.

Suggested Listings for Evaluation:

DE T ERMINATION

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 23022.355 Amegakaryocytic Thrombocytopenia

COMPASSIONATE ALLOWANCE INFORMATION

AMEGAKARYOCYTIC THROMBOCYTOPENIA

ALTERNATE NAMES

Inherited Bone Marrow Failure Syndrome; IBMFS; Congenital Amegakaryocytic Thrombocytopenia; CAMT; AAT; Acquired pure megakaryotic aplasia; Thrombocytopenia congenital amegakaryotic

DESCRIPTION

Amegakaryocytic Thrombocytopenia is a rare, inherited bone marrow failure syndrome (IBMFS) in young children where the bone marrow fails to produce platelets or megakaryocytes. This causes the child’s blood not to clot if he or she starts bleeding. Over time, the bone marrow may also cease making red blood cells and neutrophils. Mutation of the gene Amega (MPL) is the cause of the disease. Clinical manifestations including petechiae (tiny purplish, red spots of bleeding into the skin), bruising, and bleeding, usually beginning at birth or within the first year of life.

About half of the people with IBMFS have characteristic physical findings including neurologic and cardiac anomalies. Over time, complete failure of the bone marrow to produce other blood products (aplastic anemia) also occurs in nearly half of the children. The diagnosis of this syndrome is usually made by 1 month of age. Males and females are equally affected. Some people are at risk for developing leukemia (cancer in the blood forming tissue of bone marrow).

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

Diagnostic testing: Definitive diagnostic lab testing includes MPL analysis (genetic testing); bone marrow aspirate, and biopsy specimens showing normal cellularity, with markedly reduced or absent megakaryocytes. Laboratory studies are needed to confirm the diagnosis.

Physical findings: Individuals with this condition may have:

  • Bruising;

  • Bleeding, which can be life threatening; and

  • Petechiae (tiny red dots under the skin that are a result of very small bleeds into the skin).

Children with CAMT can also have:

  • Central nervous system abnormalities;

  • Delays of psychomotor development;

  • Cardiac defects; and

  • Other rare malformations.

ICD-9: 287.33

TREATMENT

Stem cell transplant remains the only curative treatment for this disorder. Only small fractions of people have a suitable sibling transplant donor. Children with this disorder are treated with platelet transfusions.

PROGRESSION

Onset begins within the first month of life. Life-threatening complications include:

  • Thrombocytopenic bleeding;

  • Aplastic anemia; and

  • Malignant myeloid leukemia.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

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

  • Laboratory tests showing results of chromosomal and gene analysis.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

107.06

Disorders of bone marrow failure

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 23022.370 Bilateral Retinoblastoma

 

COMPASSIONATE ALLOWANCE INFORMTION

BILATERAL RETINOBLASTOMA

ALTERNATE NAMES

Malignant Neoplasm, Retina; Glioma Retinal; Rb; RB; Glioma, retinal

DESCRIPTION

Bilateral Retinoblastoma is a disease that results in malignant tumors that form in the tissues of the retinas of both eyes in children under age 6, with most children with this disease diagnosed between the ages of 1-2 years. Retinoblastoma is the most common intraocular malignancy of infancy and childhood; with an incidence of 1/15,000-20,000 live births. Retinoblastoma is bilateral in about 40% of cases. Bilateral and multifocal unilateral forms are usually hereditary in nature and are caused by mutations in the RB1 gene. The tumors can spread to the eye socket through the optic nerve and may spread to the brain, lungs, and bones.

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

Diagnostic testing: The diagnosis of bilateral retinoblastoma is made by examination of the eyes with dilation of the pupils; CT scan or MRI scan of the head to evaluate tumors and possible spread to the brain; and ultrasound of the eyes (head and eye echoencephalogram).

Physical finding s: The most typical finding is a whitening of the pupils, the so-called "cat's eye reflex" (leukocoria). In addition, the eyes may be misaligned so that they appear crossed (strabismus). The eyes may become red and painful and glaucoma may occur because the fluid from the eyes cannot drain properly. Other signs and symptoms may include soreness or swelling of the eyelids; and blindness or poor vision in both eyes.

ICD-9: 190.5

TREATMENT

Treatment options depend upon the size and location of the tumors. Small tumors are treated by laser surgery. Radiation and chemotherapy may be needed if the tumors have spread beyond the eyes.

PROGRESSION

The likelihood of a cure for Bilateral Retinoblastoma is lower than the unilateral type (which may be cured by chemotherapy and radiation or removal of the eye) and depends on how the tumors have spread. If the tumors spread to the brain, the prognosis is almost uniformly fatal.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

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

  • Operative reports;

  • Pathology report;

  • Biopsy reports; and

  • Imaging studies.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

113.12

The treatment for retinoblastoma usually results in a visual impairment. Evaluate any resulting visual impairment using the visual listings.

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 23022.375 Cri du Chat Syndrome

 

COMPASSIONATE ALLOWANCE INFORMATION

CRI DU CHAT SYNDROME

ALTERNATE NAMES

5p- Syndrome; Cat's Cry Syndrome; Cat Cry Syndrome; Le Jeune Syndrome; Chromosome 5p- Syndrome; 5p deletion syndrome; Monosomy 5p; 5p minus syndrome; Chromosome 5p deletion syndrome; CdCS

DESCRIPTION

Cri du Chat syndrome is a hereditary chromosomal condition that results when a piece of chromosome 5 is missing. Infants with this condition often have a high-pitched cry that sounds like that of a kitten or cat cry. The disorder is characterized by intellectual disability and delayed development, low birth weight, and failure to thrive. There are several distinctive physical features present such as small head, low-set ears, wide-set eyes, small jaw and partial webbing or fusing of fingers and toes, weak motor skills and muscle tone. Some children with cri-du-chat syndrome are also born with cardiac defects, scoliosis and cleft palates. Destructive behavior, self-mutilation and aggression are common.

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

Diagnostic testing: The diagnosis of Cri du Chat is generally made in the hospital at birth. Genetic tests can show a partial deletion of chromosome 5p. Florescence In Situ Hybridization (FISH) analysis showing chromosome deletion. A skull x-ray may reveal an abnormal angle to the base of the skull.

Physical findings: The clinical symptoms of this impairment include:

  • A high-pitched cat-like cry;

  • Intellectual and developmental delays;

  • Distinctive facial features;

  • Small head size (microcephaly);

  • Wide-spaced eyes (hypertelorism);

  • Inguinal hernia, separation of the muscles in the belly area (diastasis recti);

  • Extra fold of skin over the inner corner of the eye (epicanthal folds);

  • Problems with the folding of the outer ears; and

  • Low birth weight and weak muscle tone (hypotonia) in infancy.

ICD-9 : 758.31

PROGRESSION

The outcome varies, but intellectual disability is usual. Half of those children affected learn sufficient verbal skills to communicate. The cat-like cry becomes less apparent over time.

TREATMENT

No specific treatment is available for this condition. The intellectual disability must be addressed, and counseling is recommended for the parents/caregivers.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Clinical examination that describes diagnostic features of the impairment;

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

  • X-rays showing skeletal abnormalities; and

  • Results of chromosome testing (karyotyping).

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

110.08 B

This condition involves multiple body systems, and is expressly included in 110.08 B. A description of clinical findings and laboratory findings will be needed to adjudicate this case.

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 23022.380 Degos Disease - Systemic

 

COMPASSIONATE ALLOWANCE INFORMATION

DEGOS DISEASE - SYSTEMIC

ALTERNATE NAMES

Degos-Kohlmeier Disease; Degos Syndrome; Kohlmeier-Degos Disease; Malignant Atrophic Papulosis; MAP; Kohlmeier disease; Papulosis Atrophican Maligna; Degos’s Malignant Atrophic Papulosis; Atrophic Papulosis, malignant

DESCRIPTION

Degos disease is a rare non-inflammatory disease of the blood vessels that is characterized by a narrowing and blockage in small and medium sized arteries, leading to ischemia and tissue infarction in the involved organ systems. Skin lesions are the characteristic feature of Degos disease. Blood vessels that supply blood to the skin, gastrointestinal tract, central nervous system, and organs such as the eyes, kidneys, heart, and liver can also be involved. Immune system dysregulation may be a key driver in Degos disease development.

The disease occurs in two stages. Stage 1, which involves skin lesions that may last for weeks to years and Stage 2, which involves lesions of the intestines and other organs. In the first stage, individuals will notice red lesions that leave scars with white centers. These lesions can result in bowel ischemia, chronic skin lesions, ocular lesions, strokes, spinal lesions, mononeuritis multiplex (inflammation of several separate nerves), epilepsy, headaches, or cognitive disorders. In the second stage, the more lethal multi-organ variant form, individuals begin to complain of abdominal pain, diarrhea, and/or weight loss. The intestinal lesions are known to break through the wall of the bowels (perforation), thus leading to a potentially life threatening complication (sepsis). At Stage 2, the disease is usually fatal within 2 or 3 years. The disorder usually occurs in young adults, mostly affecting men. The cause of this disease is unknown.

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

 

Diagnostic testing: The diagnosis of systemic Degos disease is made by:

  • Physical examination;

  • Identification of characteristic findings (e.g. skin lesions);

  • CT/ MRI scan; and

  • Microscopic examination of affected skin tissue that reveals distinctive changes to the tissue.

Physical findings: Degos disease is characterized by:

  • Erythematous pink or red papules on the skin (skin lesions);

  • Lesions in the gastrointestinal tract when there is gastric involvement; and

  • Lesions with central porcelain-white atrophy and surrounding teleangiectatic rim.

ICD-9 : 447.8

TREATMENT

Treatment options are limited, consisting mainly of antiplatelet drugs, anticoagulants or immunosuppressants. The effect of treatment is limited to case reports.

PROGRESSION

Systemic Degos disease is frequently fatal within 2-3 years from the onset of systemic involvement.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

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

  • Dermatology consultation that evaluates the ability of the individual to adjust to the reduced oxygen carrying capacity of blood;

  • Laboratory tests measuring blood composition; and

  • MRI/CT scans.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

 

 

Equals

14.03

Degos disease is not a vasculitis, it is an occlusive arteriopathy. Therefore, it can not meet listing 14.03. The relative effectiveness of eculizumab, a hematologic medication which blocks complement component 5 (C5) suggests it may be a hematologic/endothelial/clotting disease. Along with the skin, organ and body systems most commonly affected include gastrointestinal, neurologic, cardiac, and pulmonary. Constitutional symptoms or signs often include fatigue, persistent fever, and involuntary weight loss.

114.03

The relative effectiveness of eculizumab, a hematologic medication which blocks complement component 5 (C5) suggests it may be a hematologic/endothelial/clotting disease. Along with the skin, organ and body systems most commonly affected include gastrointestinal, neurologic, cardiac, and pulmonary. Constitutional symptoms or signs often include fatigue, persistent fever, and involuntary weight loss.

* 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 23022.390 Edwards Syndrome (Trisomy 18)

COMPASSIONATE ALLOWANCE INFORMATION

EDWARDS SYNDROME

ALTERNATE NAMES

Trisomy 18; Chromosome 18; Trisomy 18 Complete; Complete Trisomy 18 Syndrome; Trisomy E Syndrome

DESCRIPTION

Edwards syndrome is a genetic disorder in which a person has an extra third copy (trisomy) of genetic material from chromosome 18, instead of the usual two copies. This chromosomal condition causes severe intellectual disability and congenital abnormalities. It severely affects all organ systems of the body. Children born with Edwards syndrome often have intellectual disability and delayed development, congenital heart disease, seizures, and physical malformations. Associated conditions may include heart defects such as ventricular septal defect and malformations of the digestive tract, urinary tract, and genitals. Due to the presence of several life-threatening medical problems, many infants die within their first month. This disorder is a relatively common syndrome affecting approximately 1 out of 3,000 live births. It is three times more common in girls than boys.

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

 

Diagnostic testing : The diagnosis of Edwards syndrome is made by genetic testing of the amniotic fluid; Ultrasounds of the heart and abdomen; and x-rays of the skeletal system.

Physical findings: Individuals with Edwards syndrome are characterized by:

  • Small head size;

  • Small wide-set eyes;

  • Small lower jaw;

  • Clenched hands with second and fifth fingers on top of the others;

  • Other defects of the hands and feet;

  • Low birth-weight;

  • Crossed legs;

  • Webbed neck;

  • Underdeveloped finger nails; and

  • A shortened breastbone.

ICD-9 : 758.2

TREATMENT

Treatment of Edwards syndrome consists of symptomatic and supportive care. Treatment is dependent on the medical condition of the individual and the affected organ defects.

PROGRESSION

Fifty percent of infants with this condition do not survive beyond the first week of life. Some children have survived to teenage years, but with serious medical and developmental problems.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

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

  • Laboratory tests showing results of chorionic villus sampling (CVS).

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 23022.395 Fibrodysplasia Ossificans Progressiva

COMPASSIONATE ALLOWANCE INFORMATION

FIBRODYSPLASIA OSSIFICANS PROGRESSIVA

ALTERNATE NAMES

FOP; Myositis Ossificans Progressiva; Progressive Myositis Ossificans; Progressive Ossifying Myositis; Munchmeyer Disease

DESCRIPTION

Fibrodysplasia Ossificans Progressiva (FOP) is an inherited disorder in which muscle tissue and connective tissue such as tendons, muscles and ligaments are gradually replaced by bone (ossified), forming bone outside the skeleton (extra-skeletal or heterotopic bone) that progressively locks joints in place and makes movement difficult or impossible.

This process generally becomes noticeable in early childhood, starting with the neck and shoulders and proceeding down the body and into the limbs, rendering them permanently unable to bend or move. Any small injury to connective tissue (muscles, ligaments, and tendons) can result in the formation of hard bone around the damaged site. The extra bone that develops is normal, but grows in the wrong place.

Surgical attempts to remove the extra, unwanted bone results in an explosive growth of more bone. Inability to open the mouth may cause difficulty speaking or eating.

Over time, individuals with this disorder may experience malnutrition due to their eating problems. These individuals may also have breathing difficulties because of extra bone formation around the rib cage that restricts expansion of the lungs.

FOP is caused by mutations in the ACVR1 gene related to the “BMP pathway”, which is associated with the formation of the skeleton in the embryo and the repair of the skeleton following birth.

FOP is a very rare genetic disease affecting approximately 1 in 2 million people worldwide.

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

Diagnostic testing : The diagnosis of this impairment is made by physical examination; Evidence of mutation in the ACVR1 gene; and MRI/CT showing evidence of hetertropic bone formation.

Physical findings :

  • Malformations of the big (great) toes;

  • Short thumbs; curved fifth finger;

  • Diminished range of motion (ROM) of the joints, especially the neck, spine, shoulder girdle and arms;

  • Tall narrow vertebral bodies;

  • Fusion of the facet joints between C2 and C7;

  • Decreased oral aperture (opening of the mouth); and

  • Diminished chest expansion.

ICD-9 : 728.11

TREATMENT

Currently there are no known effective treatments. Medication is only helpful to manage symptoms of pain, inflammation, etc. during acute flare-ups. Surgical attempts to remove the extra, unwanted bone may result in growth of more bone.

PROGRESSION

FOP usually begins during early childhood and progresses throughout life. Most children with FOP develop episodic, painful inflammatory soft tissue swellings (or flare-ups) during the first decade of life. Life expectancy is variable and usually related to the extent of calcification and the organ systems affected.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

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

  • MRI/CT of muscles and joints; and

  • Laboratory tests results documenting mutations in the ACVR1 gene.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

101.02 A & 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 23022.405 Hemophagocytic Lymphohistiocytosis

COMPASSIONATE ALLOWANCE INFORMATION

HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS - FAMILIAL TYPE

ALTERNATE NAMES

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

DESCRIPTION

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

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

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

Physical findings: Children with FHLH present with:

  • Prolonged high fever;

  • Splenomegaly (enlarged spleen);

  • Liver abnormalities;

  • Cytopenia;

  • Hypofibrinogenemia or hypertriglyceridemia;

  • Hemophagocytosis;

  • Skin rashes on the scalp and behind the ears;

  • Swollen or hemorrhagic gums;

  • Abdominal pain;

  • Vomiting;

  • Diarrhea;

  • Weight loss;

  • Jaundice;

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

  • Failure to thrive.

ICD-9: 288.4

TREATMENT

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

PROGRESSION

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

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

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

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

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

 

Equals

114.07 A, B, or C

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

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

DI 23022.410 MPS II - Hunter Syndrome

COMPASSIONATE ALLOWANCE INFORMATION

MPS II - HUNTER SYNDROME

ALTERNATE NAMES

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

DESCRIPTION

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

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

Diagnostic testing: Enzyme studies documenting absent or deficient levels of iduronate-2-sulfatase (I2S). Genetic testing for change (mutation) in the iduronate sulfatase gene, and urine testing for heparan sulfate and dermatan sulfate. Pulmonary function testing, echocardiogram, EMG/NCS (nerve conduction studies), CT scan/ MRI may be supportive. Slit lamp examination.

Physical findings:

  • Coarse facial features;

  • Thickened skin;

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

  • Short stature;

  • Enlarged tongue (macroglossia) and vocal cords;

  • Enlarged liver and spleen (hepatosplenomegaly);

  • Retinal degeneration;

  • Contractures of the joints;

  • Leaky heart valves, umbilical or inguinal hernia;

  • Carpal tunnel syndrome;

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

  • Enlarged head (macrocephaly).

ICD-9: 277.5

TREATMENT

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

PROGRESSION

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

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

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

  • Enzyme assay for iduronate sulfatase;

  • Pulmonary function testing;

  • Echocardiogram;

  • EMG/NCS (nerve conduction studies);

  • CT scan/ MRI scan, and

  • Slit lamp examination.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

110.08 B

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

Equals

 

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

DI 23022.415 MPS I - Hurler Syndrome

COMPASSIONATE ALLOWANCE INFORMATION

MPS I - HURLER SYNDROME

ALTERNATE NAMES

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

DESCRIPTION

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

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

 

Diagnostic testing:

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

  • X-rays of the spine showing dysostosis multiplex;

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

  • Echocardiogram; pulmonary function testing;

  • EMG/ NCS nerve conduction studies;

  • CT scan/ MRI may be supportive; and

  • Slit lamp examination.

Physical findings : Individuals with this condition have:

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

  • Short stature;

  • Enlarged tongue (macroglossia) and vocal cords;

  • Clouding of corneas;

  • Joint stiffness;

  • Claw hand;

  • Enlarged liver and spleen;

  • Leaky heart valves/ enlarged heart;

  • Umbilical and inguinal hernia;

  • Carpal tunnel syndrome;

  • Hydrocephalus (buildup of fluid around brain);

  • Macrocephaly (large head), and

  • Cervical spinal stenosis (narrowing of spinal cord).

ICD-9: 277.5

TREATMENT

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

PROGRESSION

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

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

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

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

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

  • Urine testing;

  • Echocardiogram;

  • Pulmonary function testing;

  • EMG/ NCS nerve conduction studies; and

  • Slit lamp examination.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

110.08 B

Equals

 

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

DI 23022.420 Idiopathic Pulmonary Fibrosis

COMPASSIONATE ALLOWANCE INFORMATION

IDIOPATHIC PULMONARY FIBROSIS

ALTERNATE NAMES

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

DESCRIPTION

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

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

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

  • Chest x-ray and HRCT scan;

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

  • Pulse oximetry;

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

  • EKG;

  • TB test to rule out tuberculosis; and

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

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

ICD-9: 516.3

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

PROGRESSION

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

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

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

  • Biopsy reports;

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

  • Echocardiography

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

3.02

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

3.09

3.11

3.14

Equals

3.02

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

3.09

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

DI 23022.430 Junctional Epidermolysis Bullosa Lethal Type

COMPASSIONATE ALLOWANCE INFORMATION

JUNCTIONAL EPIDERMOLYSIS BULLOSA LETHAL TYPE

ALTERNATE NAMES

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

DESCRIPTION

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

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

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

  • Skin biopsy;

  • Blood testing for anemia;

  • Cultures to check for bacterial infection; and

  • Upper endoscopy or upper GI series.

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

  • Skin blistering;

  • Contracture deformities at the fingers, elbows or knees;

  • Swallowing problems if the mouth and esophagus are affected;

  • Fused fingers and toes; and

  • Limited mobility from scarring.

Other findings may include:

  • Anemia;

  • Esophageal narrowing eye problems;

  • Infection in the Blood or tissues muscular dystrophy;

  • Periodontal disease;

  • Failure to thrive; and

  • Squamous cell skin cancer.

ICD-9 : 757.39

TREATMENT

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

PROGRESSION

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

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

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

  • Biopsy reports

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

108.03

Equals

 

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

DI 23022.440 Leigh's Disease

COMPASSIONATE ALLOWANCE INFORMATION

LEIGH’S DISEASE

ALTERNATE NAMES

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

DESCRIPTION

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

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

 

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

  • Progressive neurologic disease with motor and intellectual developmental delay;

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

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

  • The presence of one or more of the following:

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

    • Typical nervous system tissue changes; or

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

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

Central nervous system abnormalities may include:

  • Developmental delay or regression;

  • Nystagmus;

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

  • Optic atrophy;

  • Ataxia;

  • Dysphagia;

  • Retinitis pigmentosa; and

  • Deafness.

Peripheral nervous system abnormalities may include polyneuropathy and myopathy.

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

  • Distinct physical features;

  • Hormone abnormalities resulting in short stature or hypertrichosis;

  • Heart abnormalities (hypertrophic or dilated cardiomyopathy); and

  • Gastrointestinal symptoms, such as diarrhea.

As the disorder progresses, symptoms may also include:

  • Generalized weakness;

  • Lack of muscle tone; and

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

ICD-9: 330.8

TREATMENT

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

PROGRESSION

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

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

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

  • Family history;

  • Muscle biopsy;

  • Genetic testing;

  • Electromyography or nerve conduction tests; and

  • Blood enzyme tests.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

110.08

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

Equals

 

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

 

DI 23022.460 Mucosal Malignant Melanoma

COMPASSIONATE ALLOWANCE INFORMATION

MUCOSAL MALIGNANT MELANOMA

ALTERNATE NAMES

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

DESCRIPTION

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

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

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

 

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

Other supporting lab tests include:

  • X-rays;

  • CT scan;

  • MRI;

  • PET scan; or

  • Other imaging studies.

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

ICD-9: Coded according to site of malignant neoplasm

TREATMENT

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

PROGRESSION

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

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

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

  • Pathology report; and

  • Documentation of mucosal melanoma metastasis.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

13.29 C

Mucosal melanoma meets the criteria in listing 13.29 C.

113.29 C

Mucosal melanoma meets the criteria in listing 113.29 C.

Equals

 

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

DI 23022.465 Neonatal Adrenoleukodystrophy

COMPASSIONATE ALLOWANCE INFORMATION

NEONATAL ADRENOLEUKODYSTROPHY

ALTERNATE NAMES

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

DESCRIPTION

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

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND CODING

 

Diagnostic testing :

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

  • Blood studies may detect adrenal insufficiency.

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

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

  • Hearing tests may be abnormal.

  • Molecular genetic testing for mutations in the PEX genes.

Physical findings: Symptoms of NALD include:

  • Hypotonia;

  • Poor feeding;

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

  • Seizures and liver cysts with hepatic dysfunction; and

  • Bony stippling of the patella and other long bones.

The clinical course of NALD is variable and may include:

  • Developmental delays;

  • Hearing loss;

  • Vision impairment;

  • Liver dysfunction; and

  • Episodes of hemorrhage and intracranial bleeding.

ICD-9: 277.86

TREATMENT

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

PROGRESSION

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

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

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

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

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

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

110.08

Equals

 

 

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

DI 23022.470 (Neonatal) Glutaric Acidemia

COMPASSIONATE ALLOWANCE INFORMATION

GLUTARIC ACIDEMIA – TYPE II

ALTERNATE NAMES

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

DESCRIPTION

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

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

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

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

 

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

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

  • High forehead;

  • Low-set ears;

  • Rocker bottom feet;

  • Genital abnormalities; and

  • Enlarged liver (hepatomegaly).

ICD-9: 277.85

TREATMENT

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

PROGRESSION

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

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Clinical examination that describes diagnostic features of the impairment;

  • Description of physical findings;

  • Genetic testing; and

  • Blood and urine testing.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

110.08 A

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

Equals

 

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

DI 23022.475 Niemann-Pick Disease - Type C

COMPASSIONATE ALLOWANCE INFORMATION

NIEMANN-PICK DISEASE - TYPE C

ALTERNATE NAMES

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

DESCRIPTION

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

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

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

Physical findings : At birth, the infant may have:

  • Jaundice;

  • Feeding problems;

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

  • Inadequate weight gain (failure to thrive);

  • Developmental problems;

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

  • Inability to look up and down;

  • Difficulty in walking and swallowing;

  • Progressive loss of vision and hearing;

  • Seizures;

  • Dementia;

  • Slurred and irregular speech; and

  • Tremors.

ICD-9 : 272.7

TREATMENT

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

PROGRESSION

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

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Clinical examination that describes diagnostic features of the impairment;

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

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

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

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

Suggested Listings for Evaluation:

DETERMINATION LISTING

REMARKS

Meets

110.08

Equals

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

 

DI 23022.480 Patau Syndrome (Trisomy 13)

COMPASSIONATE ALLOWANCE INFORMATION

PATAU SYNDROME

ALTERNATE NAMES

Trisomy 13; Trisomy 13 Syndrome; Complete Trisomy 13 Syndrome; D Trisomy 13 Syndrome; Bartholin-Patau syndrome; Patau’s Syndrome

DESCRIPTION

Patau syndrome is a genetic disorder in which all or a portion of chromosome 13 appears three times (trisomy) rather than twice in cells of the body. The extra material interferes with normal development, leading to severe intellectual disability and physical abnormalities in many parts of the body.

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

Diagnostic testing:

  • Cardiac ultrasound may show arial septal defect, patent ductus arteriosus, and ventricular septal defect;

  • Gastrointestinal x-rays or ultrasound may show rotation of the colon; and

  • MRI or CT scans of the head may reveal a problem with the structure of the brain, where the two sides of the brain are joined (holoprosencephaly).

Physical findings:

  • Single umbilical artery at birth;

  • Abnormal placement of the heart toward the right side of the chest (dextroposition);

  • Arial septal defect;

  • Patent ductus arteriosus;

  • Ventricular septal defect;

  • Brain or spinal cord abnormalities;

  • Very small or poorly developed eyes (microphthalmia);

  • Extra fingers and/or toes (polydactyly);

  • An opening in the lip (a cleft lip) with or without an opening in the roof of the mouth (a cleft palate); and

  • Weak muscle tone (hypotonia);

Many infants with this disorder fail to grow and gain weight at the expected rate (failure to thrive), have severe feeding difficulties, and experience pisodes in which there is temporary cessation of spontaneous breathing (apnea).

ICD-9: 758.1

TREATMENT

Medical management of children with Patau syndrome is planned on a case-by-case basis and depends on the individual circumstances of the infant.

PROGRESSION

Onset is congenital, with all of the physical abnormalities present at birth. The syndrome involves multiple abnormalities, many of which are not compatible with life. Due to the presence of several life-threatening medical problems, many infants with Patau syndrome die within their first days or weeks of life. Only five percent to 10 percent of children with this condition live past their first year. Infants who survive to one year have severe complications including intellectual disability, seizures and failure to thrive.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Clinical examination that describes diagnostic features of the impairment and laboratory studies are needed to confirm the diagnosis.

  • Laboratory tests showing results of genetic chromosome testing MRI or CT scan of the brain.

  • Laboratory tests showing results of genetic testing (chromosomal 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 23022.485 Primary Progressive Aphasia

COMPASSIONATE ALLOWANCE INFORMATION

PRIMARY PROGRESSIVE APHASIA

ALTERNATE NAMES

PPA; Semantic Dementia; Aphasia, Primary Progressive; Primary Progressive Aphasia Syndrome

DESCRIPTION

Primary Progressive Aphasia (PPA) is a rare type of dementia characterized by slow and gradual loss of language (aphasia). It affects the language and the person’s ability to retain general world knowledge (semantic dementia) and eventually progresses to amnesia. PPA is a subdivision of Pick disease. Recent studies have concluded that individuals with PPA have a specific combination of prion gene variants, although this is not the primary cause of the disorder.

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

 

Diagnostic testing :

  • Clinical exam;

  • Speech/language evaluation that examines word retrieval, sentence formulation, and auditory comprehension skills; and

  • MRI or CT scan of the brain demonstrating atrophy of the brain language areas or of the frontal and temporal lobes.

Exam : PPA symptoms vary, depending on which portion of the brain's language area is involved. The condition has three types, which cause different symptoms. The three types of PPA are:

  • Semantic variant;

  • Logopenic variant; and

  • Nonfluent-agrammatic variant.

Symptoms of semantic variant PPA include:

  • Having difficulty comprehending spoken or written language, particularly single words;

  • Having difficulty comprehending word meanings; and

  • Having difficulty naming objects.

Symptoms of logopenic variant PPA include:

  • Having difficulty retrieving words;

  • Frequently pausing in speech while searching for words; and

  • Having difficulty repeating phrases or sentences.

Symptoms of nonfluent-agrammatic variant PPA include:

  • Having difficulty forming words;

  • Being hesitant and halting in speech;

  • Making errors in speech sounds;

  • Having difficulty understanding sentences; and

  • Using grammar incorrectly.

ICD-9: 784.3

TREATMENT

There is currently no effective treatment that can cure or slow the progression of PPA.

PROGRESSION

Symptoms of PPA begin gradually, usually before the age of 65 years, and worsen over time. Individuals with PPA may become mute and eventually lose the ability to understand spoken or written language within 10 years of diagnosis.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Clinical examination that describes diagnostic features of the impairment.

  • Documentation of a clinically appropriate longitudinal medical history, speech-language assessment, neurological findings, and neuroimaging consistent with the diagnosis of PPA.

  • Speech/language assessment can determine the ability to express and comprehend oral and written messages.

    • A valid Total Language standard score that is at least 2 1/2 standard deviations below the mean on a comprehensive language test, such as the Oral and Written Language Scales, or

    • An Aphasia Quotient that is in the “severe” range on an aphasia battery such as the Boston Diagnostic Aphasia Examination or Western Aphasia Battery.

  • If the administration of a comprehensive language test or aphasia battery is not possible or speech-language testing is not available, a descriptive statement may be used. This statement should indicate that the claimant is either unable to follow a simple two-step direction without prompting or visual cues, or to spontaneously produce single words or two-word phrases, or both.

  • Brain imaging (MRI or CT scan) documenting atrophy of fronto-temporal regions is necessary.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

11.04

 

12.02

Equals

11.04 A

 

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

DI 23022.495 MPS III - Sanfilippo Syndrome

COMPASSIONATE ALLOWANCE INFORMATION

MPS III - SANFILIPPO SYNDROME

ALTERNATE NAMES

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

DESCRIPTION

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

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

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

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

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

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

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

 

Diagnostic testing:

  • Clinical examination;

  • Urine tests;

  • Enzyme assays

  • Blood culture;

  • Echocardiogram;

  • Slit lamp eye exam;

  • Skin fibroblast culture; and

  • X-rays of the bones.

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

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

ICD-9 : 277.5

TREATMENT

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

PROGRESSION

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

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Clinical examination that describes diagnostic features of the impairment;

  • Laboratory tests showing results of genetic testing;

  • Enzyme study tests;

  • Urine tests; and

  • MRI or CT scan.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

 

Equals

110.08 B

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

DI 23022.500 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 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

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 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

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.

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.

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 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

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.

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.

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 23022.530 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 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

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.

PROGRESSION

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

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 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

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.

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.

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 PBD’s;

  • 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 23022.540 Aortic Atresia

    

COMPASSIONATE ALLOWANCE INFORMATION

AORTIC ATRESIA

ALTERNATE NAMES

Aortic Valve Atresia; Aortic Valve Stenosis

DESCRIPTION

Aortic Atresia is a rare congenital heart defect in which there is no opening from the left ventricle of the heart into the aorta. This type of obstruction interrupts blood flow from the left ventricle of the heart to the body. Because of this blockage, the only other way for blood to flow to the rest of the body is through another structure in the heart called the ductus ateriosus. Aortic atresia usually occurs in combination with other heart defects, such as hypoplastic left heart syndrome. This combination is the most frequent cause of congestive heart failure and death in the neonatal period (the first 28 days of life).

Infants with aortic valve atresia surviving into adulthood may develop problems with their heart functioning later in life due to worsening of the condition. Over time, the surgical treatments that were used at infancy to repair the aortic heart valve may leave scar tissue behind, increasing the chances of abnormal heart rhythm (arrhythmia) and an area for infection called SBE (subacute bacterial endocarditis).

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

Diagnostic testing:

  • Chest x-ray;

  • Electrocardiogram;

  • Echocardiogram;

  • Cardiac catheterization; and

  • Cardiac magnetic resonance imaging (MRI).

Physical findings: The physical findings associated with aortic atresia include:  

  • Cyanosis (blue-tinged skin);

  • Dyspnea (shortness of breath);

  • Rapidly progressive heart failure with hepatomegaly (enlarged liver); and

  • A gallop rhythm.

ICD-9: 747.22

TREATMENT

The treatment of aortic atresia is based on the severity of the condition. Infants are usually treated with medications to keep the ductus arteriosis open, and staged surgical intervention. Adults should be monitored by a cardiologist to assess the need for medication, surgery, and for heart infections (endocarditis) throughout their lifetime.

PROGRESSION

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

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

  • Cardiology consultation reports;

  • Imaging studies of the heart; and

  • Blood laboratory testing including hematocrit, arterial blood gases, or arterial O2 saturation.

Suggested Listings for Evaluation:
DETERMINATION

LISTING

REMARKS
Meets 4.06

104.06 A, B, C, or D

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

DI 23022.545 Eisenmenger Syndrome

COMPASSIONATE ALLOWANCE INFORMATION

EISENMENGER SYNDROME

ALTERNATE NAMES

Eisenmenger Complex; Eisenmenger Disease; Eisenmenger Reaction; Eisenmenger Physiology; Congenital heart defect – Eisenmenger; Cyanotic Heart Disease –Eisenmenger; Birth Defect heart – Eisenmenger; ES

DESCRIPTION

Eisenmenger syndrome is a rare progressive heart condition that results from uncorrected congenital (present at birth) heart disease. Babies born with this condition have abnormal communication between the normal pumping chambers of the heart. This communication allows blood that has already received oxygen from the lungs to flow back through the lungs, instead of being circulated to the rest of the body. This abnormal blood flow through the lungs, results in higher pressure within the pulmonary circulation damaging these vessels and causing pulmonary hypertension. As this condition worsens and the pressure increases, the backed up oxygen poor blood is then circulated to the rest of the body. Eisenmenger syndrome usually develops before a child reaches puberty, but may develop in adolescence and early adulthood.

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

Diagnostic testing: Diagnostic testing for Eisenmenger syndrome includes:

  • Complete blood count (CBC);

  • Chest x-ray;

  • MRI scan of the heart;

  • Cardiac catheterization;

  • Electrocardiogram; and

  • Echocardiogram.

Physical findings:

  • Abnormal heart rhythm (arrhythmia);

  • Bluish lips, fingers, toes, and skin (cyanosis);

  • Heart murmurs (extra sounds when listening to the heart);

  • Chest pain;

  • Episodes of coughing up blood;

  • Dizziness;

  • Fainting;

  • Fatigue;

  • Shortness of breath;

  • Stroke; and

  • Enlarged fingers and toes (clubbing).

ICD-9: 745.4

TREATMENT

Treatment is aimed at controlling the child’s symptoms, improving quality of life, and the prevention of serious complications.

PROGRESSION

Generally, the presence of Eisenmenger syndrome signals inoperability of the underlying congenital problem. Some children may benefit from heart and lung transplantation or lung transplant.

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

  • Laboratory studies are needed to confirm the diagnosis.

Suggested Listings for Evaluation:
DETERMINATION

LISTING

REMARKS
Meets 4.06

104.06

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

   

DI 23022.550 Endomyocardial Fibrosis

COMPASSIONATE ALLOWANCE INFORMATION

ENDOMYOCARDIAL FIBROSIS

ALTERNATE NAMES

EMF; Davies Disease; Fibroelastic Endocarditis, Loeffler Endomyocardial Fibrosis with Eosinophilia; Loeffler Fibroplastic Parietal Endocarditis; Loeffler’s Disease

DESCRIPTION

Endomyocardial Fibrosis (EMF) is a rare progressive type of heart disease of unknown origin (idiopathic). It is illustrated by progressive fibrosis (the development of excess fibrous connective tissue) of the lining of one or both lower heart chambers. This results in constriction of the heart cavity and can involve the heart valves and other structures. The overall prognosis is poor and depends on the extent and distribution of disease within the various heart chambers and valves of the heart. EMF is an idiopathic disorder of the tropical and subtropical regions of the world characterized by the development of restrictive cardiomyopathy. Women and children are more commonly affected than men.

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

Diagnostic testing:

  • Clinical examination describing physical findings;

  • Complete blood count showing anemia and eosinophilia;

  • Chest x-ray showing cardiomegaly;

  • Imaging studies showing enlargement of the atria;

  • Echocardiography;

  • Angiography showing distortion of the heart chambers;

  • Electron beam computed tomography; and

  • Cardiovascular magnetic resonance imaging (MRI) showing obliterative changes in the ventricles, atrial dilation, and regurgitant antrioventricular valves.

 Physical findings: Signs of this disease include:

  • Fibrotic heart lesions;

  • Calcification;

  • Restricted ventricle; and

  • Mitral regurgitation.

ICD-9: 288.3

TREATMENT

There is no definitive cure for this condition. Palliative treatment aimed at controlling symptoms, utilizing diuretics, digoxin, beta-blockers, endocardiectomy, cardiopulmonary bypass, and immunosuppressive therapy.

PROGRESSION

Most people have extensive disease at the time of diagnosis. The disease is usually fatal within one to three years after onset of symptoms. Prognosis for this condition is poor with high incidences of sudden cardiac death from fatal arrhythmias or from progressive cardiac failure.

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

  • Complete blood count (CBC);

  • Electrocardiogram (ECG);

  • Chest X-ray (CXR); or

  • Cardiac catheterization; and cardiovascular magnetic resonance imaging (MRI).

Suggested Listings for Evaluation:
DETERMINATION

LISTING

REMARKS
Meets 4.02
4.05
Equals
* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.555 Heart Transplant Graft Failure

COMPASSIONATE ALLOWANCE INFORMATION

HEART TRANSPLANT GRAFT FAILURE

ALTERNATE NAMES

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

DESCRIPTION

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

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

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

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

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

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

Physical findings: Symptoms of transplant failure include:

  • Heart failure with generalized edema (swelling);

  • General discomfort or ill feeling;

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

  • Fever.      

ICD-9: 996.83

TREATMENT

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

PROGRESSION

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

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

  • Cardiology consultation reports;

  • Imaging studies of the heart; and

  • Blood laboratory testing

Suggested Listings for Evaluation:
DETERMINATION

LISTING

REMARKS
Meets 4.09
104.09
Equals
* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

     

DI 23022.560 Heart Transplant Wait List 1A/1B

COMPASSIONATE ALLOWANCE INFORMATION

HEART TRANSPLANT WAIT LIST 1A/1B

ALTERNATE NAMES

Cardiac Transplant; Transplant-Heart

DESCRIPTION

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

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

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

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

Diagnostic testing: Medical report of physical findings including:

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

  • Chest x-ray;

  • Electrocardiogram;

  • Echocardiogram;

  • Cardiac catherization; and

  • Cardiac magnetic resonance imaging (MRI).

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

  • Dyspnea (shortness of breath);

  • Chronic cough or wheezing;

  • Edema;

  • Nausea or lack of appetite;

  • A high heart rate; and

  • Confusion or impaired thinking.   

ICD-9: 428.0

TREATMENT

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

PROGRESSION

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

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

  • Operative reports;

  • Cardiology consultation reports;

  • X-ray showing heart failure; and

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

Suggested Listings for Evaluation:
DETERMINATION

LISTING

REMARKS
Meets 4.02
104.02 A, B, or C
Equals
* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.565 Hypoplastic Left Heart Syndrome

COMPASSIONATE ALLOWANCE INFORMATION

HYPOPLASTIC LEFT HEART SYNDROME

ALTERNATE NAMES

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

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

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

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

Testing may include:

  • Cardiac catheterization;

  • Electrocardiogram (ECG);

  • Echocardiogram; and

  • Other imaging studies as appropriate.

Physical findings: Symptoms of HLHS may include:

  • Bluish (cyanosis) or poor skin color;

  • Cold hands and feet (extremities);

  • Lethargy;

  • Poor pulse;

  • Poor suckling and feeding;

  • Pounding heart;

  • Rapid breathing; and

  • Shortness of breath.        

ICD-9: 746.7

TREATMENT

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

PROGRESSION

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

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

  • Operative reports;

  • Cardiology consultation report; and

  • Imaging studies.

Suggested Listings for Evaluation:
DETERMINATION

LISTING

REMARKS
Meets 4.06
104.06
Equals
* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.575 Mitral Valve Atresia

COMPASSIONATE ALLOWANCE INFORMATION

MITRAL VALVE ATRESIA

ALTERNATE NAMES Mitral Atresia; MA; Mitral Regurgitation; Mitral Stenosis; Mitral Valve Disease; Mitral Valve Prolapse

DESCRIPTION

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

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

Diagnostic testing:

  • Chest x-ray;

  • Electrocardiogram;

  • Echocardiogram;

  • Cardiac catheterization; and

  • Cardiac magnetic resonance imaging (MRI).

Physical findings:

Infants with mitral valve atresia have the following signs:

  • Difficult or rapid breathing;

  • Shortness of breath;

  • Cool and clammy skin;

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

  • Difficulties feeding.   

ICD-9: 746.89

TREATMENT

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

PROGRESSION

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

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

  • Operative reports;

  • Cardiology consultation reports; and

  • Electrocardiogram.

Suggested Listings for Evaluation:
DETERMINATION

LISTING

REMARKS
Meets

4.06

104.06

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

     

DI 23022.585 Pulmonary Atresia

 

COMPASSIONATE ALLOWANCE INFORMATION

PULMONARY ATRESIA

ALTERNATE NAMES

Pulmonary valve atresia with intact ventricular septum; PA-IVS; Pulmonary valve atresia with ventricular septal defect; PA-VSD; Pulmonary atresia – intact ventricular septum; PA/IVS; Congenital heart disease – pulmonary atresia; Cyanotic heart disease – pulmonary atresia; Valve – disorder pulmonary atresia; Congenital Pulmonary Atresia

DESCRIPTION

Pulmonary atresia is a rare congenital heart disease in which the pulmonary valve does not form properly. The pulmonary valve is an opening on the right side of the heart that regulates blood flow from the right ventricle (right side pumping chamber) to the lungs. Because of this defect, blood from the right side of the heart cannot go to the lungs to pick up oxygen.

Pulmonary atresia may occur with or without a hole in the wall (septum) that separates the right ventricle and the left ventricle. The hole(s) in this wall is called a ventricular septal defect (VSD). If the infant does not have a VSD, the condition is called pulmonary atresia with intact ventricular septum (PA-IVS).

Infants born with this condition also tend to have multiple other cardiac conditions, such as poorly developed tricuspid valves, underdeveloped (hypoplastic) right ventricle, and abnormal blood vessels leading into the heart. Surgery is necessary shortly after birth to form a shunt from the systemic circulation to the pulmonary circulation in order to oxygenate the blood.

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

Diagnostic testing:

  • Imaging studies;

  • Echocardiogram;

  • Electrocardiogram;

  • Heart catheterization; and

  • Pulse oximetry

Physical findings:

The physical findings for this condition include:

  • Bluish colored skin (cyanosis);

  • Fast breathing;

  • Fatigue;

  • Poor feeding during nursing;

  • Sweating during feeding; and

  • Shortness of breath.

 ICD-9: 746.01

TREATMENT

There are varying responses to treatment based on the severity of the defect. Infants are given medication (i.e. Prostaglandin) to help keep the blood vessel open between the pulmonary artery and the aorta (patent ductus arteriosis or PDA) until the initial shunt surgery can occur. Later, multi-staged surgeries to repair the vessel, open-heart surgery to repair or replace a pulmonary valve, reconstruction of the heart chambers, and heart transplant have been used to treat patients with this defect. Infants surviving into adulthood should be monitored by a cardiologist specializing in the care of adults with congenital heart disease to assess medication needs, surgery, and infection throughout their lifetime.

PROGRESSION

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

Infants surviving into childhood and adults may develop problems with their heart functioning later in life due to congestive heart failure, angina, arrhythmias, cyanosis, and sudden death.

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

  • Operative reports;

  • Cardiology consultation reports;

  • Imaging studies; and

  • Electrocardiograms.

Suggested Listings for Evaluation:
DETERMINATION LISTING REMARKS
Meets 4.06

104.06

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

    

DI 23022.590 Single Ventricle

COMPASSIONATE ALLOWANCE INFORMATION

SINGLE VENTRICLE

ALTERNATE NAMES

Common Ventricle; Common-Inlet Left Ventricle; Double-Inlet Left Ventricle; Double-Inlet Ventricle; Single Ventricle Congenital Heart Defect; DILV; Univentricular Heart; Univentricular heart of the left ventricular type; Congenital heart defect – DILV; Cyanotic heart defect – DILV; Birth defect – DILV

DESCRIPTION

Single Ventricle defect is a rare congenital heart defect in which a child is born with only one ventricle that is capable of pumping blood; it may also be associated with other congenital heart defects such as transposition of the great arteries and aortic obstruction. Staged surgery is usually started in the first week of life. Subsequent surgeries maybe required. As the person with a single ventricle ages, potential health problems that develop include complaints of heart rhythm disturbances such as faster than normal heart (tachycardia), atrial flutter, slow heart rate (bradycardia), congestive heart failure, liver and biliary dysfunction, and fluid retention in the abdomen and lower extremities. These individuals are of greater risk for weakening and failing heart muscle, and for developing blood clots. They also have greatly diminished exercise tolerance, and do not grow well.

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

Diagnostic testing:

  • Imaging studies;

  • Electrocardiogram (ECG);

  • Echocardiogram (ultrasound of the heart); and

  • Cardiac catheterization.

Physical findings: Physical findings associated with a single ventricle include:

  • Features of cyanosis (blue tint to skin and nail beds);

  • Heart rhythm problems;

  • Fluid retention;

  • Blood clots; and

  • Weakening of the heart muscle.

ICD-9: 746.9

TREATMENT

The surgical treatment of single ventricle is based on the severity of the condition. Infants are usually treated with staged surgical intervention beginning in the first week of life. The first procedure is called a shunt. The shunt helps to increase blood flow to the lungs. Subsequent surgeries may be warranted to adjust blood flow to the lungs and to create connections between the veins and the lung arteries. Blood clotting may be a feature of this disease and may require monitoring and anticoagulation therapy. Other health problems are common and require life-long monitoring by a cardiologist trained in the care of congenital heart disease.

PROGRESSION

A diagnosis of a single ventricle defect is usually made shortly after birth. Most children with a single ventricle who have survived to adulthood have had at least one operation to repair the ventricle. Response to surgery varies depending on many factors, including the specific defect and the age at which the child undergoes surgery.

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

  • Operative reports;

  • Cardiology consultation reports;

  • Imaging testing (MRI and X-ray); and

  • Blood study coagulation reports can be used to assess blood clots.

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 23022.595 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 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

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 23022.615 Lowe Syndrome

COMPASSIONATE ALLOWANCE INFORMATION

LOWE SYNDROME

ALTERNATE NAMES

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

DESCRIPTION

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

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

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

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

Diagnostic testing:

  • Molecular genetic testing;

  • Fibroblast; and

  • Blood testing.

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

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

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

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

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

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

  • Intellectual disability;

  • Seizures;

  • Behavior problems;

  • Glaucoma;

  • Bone weakness (neonatal hypotonia); and

  • In male children, undescended testicles.

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

ICD-9: 270.8

TREATMENT

Currently there is no cure for LS. Treatment includes cataract extraction, glaucoma control, and correction of renal disease. Physical, occupational, and vision therapies, and orientation and mobility services to improve adaptive functioning. School age children require individualized and flexible instructional curricula.

PROGRESSION

People with LS have delayed development and intellectual ability ranges from normal to severely impaired. Renal dysfunction, hypotonia, increased susceptibility to infectious disease; respiratory illness, seizures, and sudden death (usually while sleeping) are the most frequent causes of death during the first years of life in children with LS.
SUGGESTED PROGRAMMATIC ASSESSMENT*
Suggested MER for Evaluation:
  • Clinical examination that describes diagnostic features of the impairment and laboratory studies are needed to confirm the diagnosis.

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

Suggested Listings for Evaluation:
DETERMINATION

LISTING

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

 

DI 23022.635 Paraneoplastic Pemphigus

COMPASSIONATE ALLOWANCE INFORMATION

PARANEOPLASTIC PEMPHIGUS

ALTERNATE NAMES

PNP; Paraneoplastic Autoimmune Multi-organ Syndrome

DESCRIPTION

Paraneoplastic Pemphigus (PNP) is a rare disease that demonstrates many of the clinical and laboratory findings of pemphigus vulgaris. It occurs in individuals who have concurrent cancers such as non-Hodgkin’s lymphoma, chronic lymphocytic leukemia, and Castleman disease. The binding of antibodies to the surface of the cells of the outer layer of skin (epidermis) causes pemphigus. When the disease involves the airways, it can cause fatal respiratory disease.

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

Diagnostic testing: There is no single test to confirm a diagnosis of PNP. Because PNP is a rare disease of the skin, a dermatologist is consulted to diagnose and treat this disease. The dermatologist will document the appearance and location of the blisters. Direct immunofluorescence (on skin or mucosal biopsies) and indirect immunofluorescence (on blood) are done to identify the antibodies and the type of pemphigus causing the skin blisters. While a tumor is essential in the diagnosis, people with tumors other than lymphoproliferative neoplasm can develop paraneoplastic pemphigus. These include thymoma, sarcoma, and lung carcinoma.

Physical findings: PNP is characterized by severe ulceration (blistering) of the mouth, lips, skin, and may involve the esophagus, conjunctiva and other mucous membranes.

ICD-9: 694.4

TREATMENT

The primary goals of treatment in PNP are to treat malignancy, to decrease blister formation and to promote healing of lesions. Immunosuppressive therapies control the disease. Prescribed corticosteroid medication like prednisone and immunosuppressive drugs like azathioprine treat the blistering. Complete removal of the tumor may improve the skin disease, but damage to the lungs may be irreversible. The major causes of death for people with PNP are respiratory failure and infections.

PROGRESSION

Men and women are equally affected by PNP. Research suggests a genetic predisposition for the disease. PNP can occur in adults and children ranging in age from 7 to 76 years of age. The average age of onset in adults is between 50-60 years of age. In children, paraneoplastic pemphigus is often the presenting sign of Castleman disease, and an increased incidence of bronchiolitis obliterans is evident. PNP is often fatal.

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

  • Dermatology and oncology consultation reports documenting disease progression and response to treatment; and

  • Laboratory testing reports documenting paraneoplastic pemphigus serum antibody screen, and results of biopsies are needed to confirm the diagnosis.

Suggested Listings for Evaluation:
DETERMINATION LISTING

REMARKS

Meets 8.03

108.03

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

 


DI 23022 TN 19 - Processing Quick Disability Determination (QDD) and Compassionate Allowance (CAL) in the Disability Determination Services (DDS) - 12/03/2018