Program Operations Manual System (POMS)
TN 54 (09-22)
DI 23022.180 Gaucher Disease (GD) - Type 2
COMPASSIONATE ALLOWANCES INFORMATION
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GAUCHER DISEASE (GD) - Type 2
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ALTERNATE NAMES
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Gaucher Disease-Type 2; GD2; Gaucher Disease, Infantile Cerebral; Gaucher Disease,
Acute Neuronopathic Type; Disease-Type 2; GD2; Gaucher Disease, Infantile Cerebral;
Gaucher Disease, Acute Neuronopathic Type; Gaucher Syndrome Type 2
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DESCRIPTION
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Gaucher Disease (GD) is an inherited metabolic disorder in which harmful quantities of a fatty substance
called glucocerebroside accumulate in the spleen, liver, lungs, bone marrow, and sometimes
in the brain. In GD Type 2, liver and spleen enlargement are apparent by 3 months
of age. Children have extensive and progressive brain damage and usually die by 2
years of age. All individuals with GD exhibit a deficiency of an enzyme called glucocerebrosidase
that is involved in the breakdown and recycling of glucocerebroside. The buildup of
this fatty material within cells prevents the cells and organs from functioning properly.
GD is one of several lipid storage diseases.
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DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING
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Diagnostic testing: The diagnosis of GD relies on demonstration of deficient enzyme activity in peripheral
blood leukocytes or other nucleated cells. Identification of two disease-causing alleles
in GBA, the only gene known to be associated with GD, provides additional confirmation
of the diagnosis but not in lieu of biochemical testing. Molecular genetic testing
using sequence analysis identifies mutations in the majority of affected individuals.
Blood chemistry testing demonstrating a deficit in the enzymatic activity of glucocerebrosidase
is definitive genetic testing for mutations in the GBA gene.
Physical findings: Individuals with this impairment may have:
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Delayed growth and physical development;
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Poor ability to suck and swallow;
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Enlarged liver and spleen;
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Respiratory difficulties; and
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ICD-9: 272.7
ICD-10: E75.22
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PROGRESSION
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The prognosis for children with GD Type 2 with onset before age two years is limited
psychomotor development and a rapidly progressive course with death by age two to
four years.
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TREATMENT
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There is no effective treatment for the severe brain damage that may occur in children
with GD Type 2.
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SUGGESTED PROGRAMMATIC ASSESSMENT*
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Suggested MER for Evaluation:
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Enzyme assay level of glucocerebrosidase activity of less than 15%, physical findings
of hepatosplenomegaly, and evidence of progressive neurodevelopmental delay;
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Clinical history and examination that describes the diagnostic features of the impairment;
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Results of blood chemistry testing; and
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Genetic testing for mutations in the GBA gene.
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Suggested Listings for Evaluation:
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DETERMINATION
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LISTING
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REMARKS
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Meets
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110.08 B
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Catastrophic congenital abnormalities or disease.
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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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