E75.242
Niemann-Pick disease type C
Clinical Classification Guidelines
Medical Intelligence & Overview
Niemann-Pick Disease Type C (NPC) is a rare genetic disorder characterized by the body's inability to properly transport cholesterol and other fats within cells. This buildup of fats leads to progressive neurological deterioration and other systemic issues. NPC affects individuals differently, with symptoms appearing at various ages and progressing at different rates. The disease is inherited in an autosomal recessive manner, meaning both parents must pass on the defective gene for a child to be affected.
Causes & Symptoms
Clinical Causes: Mutations in the NPC1 gene (most cases) Mutations in the NPC2 gene (less common) Inheritance pattern: autosomal recessive
Key Symptoms: Difficulty coordinating movements (ataxia) Problems with speech and swallowing Liver and spleen enlargement (hepatosplenomegaly) Vertical gaze palsy (difficulty moving the eyes up and down) Progressive cognitive decline Vertical gaze abnormalities Seizures Claw-shaped hands or feet Respiratory issues Skin or eye changes (e.g., foam cells in the eye)
Diagnostic & Treatment
Diagnosis Path: Diagnosis of Niemann-Pick Disease Type C involves a combination of clinical evaluation, detailed family history, and laboratory testing. Key diagnostic tools include:
Treatment Protocols: There is currently no cure for Niemann-Pick Disease Type C. Treatment focuses on managing symptoms and improving quality of life through:
Clinical Advice & FAQs
Billing Guidance
Is E75.242 a billable ICD-10 code?
Yes, E75.242 is a specific, billable code that can be used to indicate a diagnosis for reimbursement purposes.
Documentation
How do I report E75.242?
Clinical documentation must specify the nature of Niemann-Pick disease type C and any associated comorbidities for accurate reporting.
Cite this Clinical Reference