Pompe disease
ICD-10 E74.02 is a billable code used to indicate a diagnosis of pompe disease.
Pompe disease, also known as glycogen storage disease type II, is a rare genetic disorder caused by the deficiency of the enzyme acid alpha-glucosidase (GAA). This enzyme is crucial for the breakdown of glycogen, a stored form of glucose, into glucose that the body can use for energy. In individuals with Pompe disease, the lack of GAA leads to the accumulation of glycogen in various tissues, particularly in muscle cells, which can result in progressive muscle weakness and respiratory issues. The disease can present in two forms: infantile-onset Pompe disease, which manifests within the first few months of life and is characterized by severe hypotonia, cardiomyopathy, and early death if untreated; and late-onset Pompe disease, which typically appears in childhood or adulthood and progresses more slowly, primarily affecting skeletal muscles and leading to mobility issues. Diagnosis is confirmed through enzyme assays and genetic testing. Treatment options include enzyme replacement therapy (ERT) and supportive care, which can significantly improve quality of life and prolong survival.
Detailed family history and genetic testing results.
Patients undergoing genetic counseling or testing for Pompe disease.
Ensure clarity in genetic test results and implications for family members.
Comprehensive neurological assessments and muscle function evaluations.
Patients presenting with muscle weakness or respiratory issues.
Document progression of symptoms and response to treatment.
Used when confirming a diagnosis of Pompe disease.
Document the reason for testing and results.
Genetic counseling may be required for family members.
Pompe disease is primarily caused by a deficiency of the enzyme acid alpha-glucosidase due to mutations in the GAA gene.
Diagnosis is made through enzyme assays that measure GAA activity and genetic testing to identify mutations in the GAA gene.
Treatment options include enzyme replacement therapy, supportive care, and management of symptoms to improve quality of life.
