E74.02
Pompe disease
Clinical Classification Guidelines
Inclusion Terms
- Cardiac glycogenosis
- Type II glycogen storage disease
Medical Intelligence & Overview
Pompe disease, also known as acid alpha-glucosidase deficiency, is a rare genetic disorder characterized by the buildup of glycogen in the body's cells. This accumulation primarily affects the muscles, including the heart, leading to progressive muscle weakness and potential heart issues. Classified as a type of glycogen storage disease, Pompe disease can manifest in different forms, from infantile to adult-onset, depending on the severity and age at which symptoms develop. Its designation as cardiac glycogenosis highlights its impact on heart muscle health, making early diagnosis and management crucial.
Causes & Symptoms
Clinical Causes: Inherited genetic mutation in the GAA gene Autosomal recessive pattern of inheritance Deficiency of the enzyme acid alpha-glucosidase (GAA) which is necessary to break down glycogen in lysosomes Mutation results in the enzyme's reduced activity, leading to glycogen accumulation
Key Symptoms: Muscle weakness, particularly in the hips, legs, and abdomen Enlarged heart (cardiomegaly) Heart-related problems such as cardiomyopathy Frequent respiratory infections Delayed motor milestones in infants Difficulty swallowing or feeding in severe cases Progressive muscle wasting Shortness of breath Fatigue
Diagnostic & Treatment
Diagnosis Path: Clinical evaluation to assess muscle strength and heart function Blood tests to measure enzyme activity of acid alpha-glucosidase (GAA) Urinary tests for abnormal glycogen derivatives Genetic testing to identify mutations in the GAA gene Muscle biopsy to observe glycogen accumulation within muscle cells Imaging studies such as echocardiograms to evaluate heart health
Treatment Protocols: Enzyme replacement therapy (ERT) with recombinant GAA to help reduce glycogen buildup Supportive care such as physical therapy to maintain muscle strength Medications for cardiac issues like cardiomyopathy Respiratory therapy, including ventilation support if breathing is affected Monitoring and managing complications related to muscle weakness and heart problems Nutritional support to ensure adequate caloric intake and prevent wasting
Clinical Advice & FAQs
Billing Guidance
Is E74.02 a billable ICD-10 code?
Yes, E74.02 is a specific, billable code that can be used to indicate a diagnosis for reimbursement purposes.
Documentation
How do I report E74.02?
Clinical documentation must specify the nature of Pompe disease and any associated comorbidities for accurate reporting.
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