Program Operations Manual System (POMS)
TN 35 (08-20)
DI 23022.240 Niemann-Pick Disease (NPD) - Type A
COMPASSIONATE ALLOWANCES INFORMATION
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NIEMANN-PICK DISEASE (NPD) - Type A
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ALTERNATE NAMES
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Acute Neuronopathic form-type A-classic infantile form; Niemann Disease; Sphingomyelin
Lipidosis; Sphingomyelinase Deficiency
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DESCRIPTION
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Niemann-Pick Disease (NPD) refers to a group of inherited metabolic disorders known as the leukodystrophies
or lipid storage diseases in which harmful quantities of a fatty substance (lipids)
accumulate in the spleen, liver, lungs, bone marrow, and the brain. NPD Type A, neurodegenerative
form, occurs in infants. It is characterized by jaundice, an enlarged liver; and profound
brain damage. In NPD Type A, insufficient activity of an enzyme called sphingomyelinase
causes the build up of toxic amounts of sphingomyelin, a fatty substance present in
every cell of the body.
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DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND
ICD-9-CM/ICD-10-CM
CODING
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Diagnostic testing: NPD Type A is diagnosed by measuring the amount of acid sphingomyelinase (ASM) in
white blood cells. The test can be done using a blood or bone marrow sample. Sphingomyelinase
assays (analysis) can also be used. DNA tests can be done to diagnose carriers. Prenatal
testing is available when a mutation is known to exist in the family.
Physical findings: Symptoms may include:
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Lack of muscle coordination;
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Increased sensitivity to touch;
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Feeding and swallowing difficulties;
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An enlarged liver and spleen.
There may be clouding of the cornea and a characteristic cherry-red halo develops
around the center of the retina.
ICD-9: 272.7, 330.2
ICD-10: E75.240
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PROGRESSION
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Infants with NPD - Type A generally die by age 2 or 3. |
TREATMENT
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There is currently no effective treatment for persons with NPD Type A. Medicines are
available to control or relieve many symptoms, such as cataplexy and seizures.
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SUGGESTED
PROGRAMMATIC ASSESSMENT* |
Suggested MER for Evaluation:
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ASM activity level in blood or bone marrow white blood cells;
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Physical findings of hepatosplenomegaly (enlarged liver and spleen); and
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Evidence of neurodevelopmental regression and progressive delay.
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Suggested Listings for
Evaluation: |
DETERMINATION |
LISTING
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REMARKS |
Meets |
110.08 B |
Catastrophic congenital disorder |
Equals |
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* 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.
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