E75.240
Niemann-Pick disease type A
Clinical Classification Guidelines
Inclusion Terms
- Acid sphingomyelinase deficiency type A (ASMD type A)
- Infantile neurovisceral acid sphingomyelinase deficiency
Medical Intelligence & Overview
Niemann-Pick disease type A is a rare, inherited disorder classified under ICD-10 code E75.240. It is a severe form of a condition called acid sphingomyelinase deficiency. This disease typically affects infants and young children, leading to the progressive deterioration of vital organs like the liver, spleen, and brain, which can result in serious health issues and early death. Often referred to as infantile neurovisceral acid sphingomyelinase deficiency, this condition is characterized by a deficiency in an enzyme that helps break down certain fats in the body.
Causes & Symptoms
Clinical Causes: Genetic mutations inherited from parents Deficiency in the enzyme acid sphingomyelinase, leading to the buildup of sphingomyelin in cells Autosomal recessive inheritance pattern, meaning both parents must carry the defective gene
Key Symptoms: Enlarged liver and spleen (hepatosplenomegaly) Poor feeding and failure to thrive in infants Progressive neurological decline, including loss of motor skills Cherry-red spots on the eyes Muscle weakness and severe developmental delays Frequent infections due to weakened immune system Feeding difficulties and vomiting Respiratory problems as the disease progresses
Diagnostic & Treatment
Diagnosis Path: Diagnosis involves a combination of clinical evaluation and specialized tests, including enzyme activity measurement, genetic testing, and tissue analysis. These tests assess levels of acid sphingomyelinase and detect genetic mutations responsible for the disease. Imaging studies may reveal organ enlargement, and neurological assessments help evaluate brain involvement.
Treatment Protocols: Currently, there is no cure for Niemann-Pick disease type A. Management focuses on supportive care to improve quality of life. This may include nutritional support, physical therapy, and treatment of symptoms such as infections or respiratory issues. Researchers are exploring enzyme replacement therapies and other novel treatments, but these are not widely available yet. Early diagnosis and intervention are essential for managing complications effectively.
Clinical Advice & FAQs
Billing Guidance
Is E75.240 a billable ICD-10 code?
Yes, E75.240 is a specific, billable code that can be used to indicate a diagnosis for reimbursement purposes.
Documentation
How do I report E75.240?
Clinical documentation must specify the nature of Niemann-Pick disease type A and any associated comorbidities for accurate reporting.
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