E75.24
Niemann-Pick disease
Clinical Classification Guidelines
Inclusion Terms
- Acid sphingomyelinase deficiency (ASMD)
Medical Intelligence & Overview
Niemann-Pick disease is a rare genetic disorder that affects the body's ability to process certain fats. Specifically, it involves the deficiency of an enzyme called acid sphingomyelinase, leading to the accumulation of sphingomyelin in various organs. This buildup can cause progressive damage to organs such as the liver, spleen, lungs, and brain. The condition is inherited in an autosomal recessive pattern, meaning both parents must carry the gene for a child to be affected. Symptoms and severity can vary widely, depending on the type of Niemann-Pick disease.
Causes & Symptoms
Clinical Causes: Genetic mutations in the SMPD1 gene, which codes for acid sphingomyelinase. Inheritance from carriers who have one copy of the mutated gene. Absence of environmental or lifestyle factors as primary causes.
Key Symptoms: Enlarged liver and spleen (hepatosplenomegaly). Progressive neurological decline, including coordination issues and movement difficulties. Hepatosplenomegaly (enlargement of liver and spleen). Difficulty with feeding and growth issues in infants. Respiratory problems, such as frequent infections or breathing difficulties. Skin abnormalities or yellowing (jaundice) in some cases. In advanced stages, significant cognitive and motor impairments.
Diagnostic & Treatment
Diagnosis Path: Diagnosing Niemann-Pick disease involves a combination of clinical evaluation and laboratory testing. Key diagnostic steps include:
Treatment Protocols: Currently, there is no cure for Niemann-Pick disease. Treatment approaches focus on managing symptoms and preventing complications:
Clinical Advice & FAQs
Billing Guidance
Is E75.24 a billable ICD-10 code?
Yes, E75.24 is a specific, billable code that can be used to indicate a diagnosis for reimbursement purposes.
Documentation
How do I report E75.24?
Clinical documentation must specify the nature of Niemann-Pick disease and any associated comorbidities for accurate reporting.
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