The clinical diagnosis of Pompe disease is traditionally confirmed by the virtual absence (in IOPD) or markedly reduced (in LOPD) GAA activity in tissues such as cultured fibroblasts from skin biopsy, muscle biopsy, purified lymphocytes, mononuclear cells, and lymphoid cell lines. Measurement of GAA activity in skin fibroblasts is the current gold standard to make a definitive diagnosis of Pompe disease.
Muscle tissue biopsy, which is more invasive, allows muscle GAA activity and glycogen content to be assayed directly and rapidly and can also be used for histologic studies to assess the location and amount of glycogen accumulation in the tissue. In LOPD, the site of muscle biopsy can affect results. In IOPD, there is anesthesia risk if an open biopsy is done. These risks should be carefully considered for each patient.
Pulmonary function testing can identify respiratory compromise in both phenotypes of Pompe disease but are not used to confirm diagnosis.
Chest radiograph, which will show cardiomegaly and ECG, which will show short PR interval and tall QRS complexes, is a valuable screening test in the diagnostic algorithm for IOPD. An echocardiogram is a valuable next step.
Learn more about the laboratory studies for Pompe disease.
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Cite this: Ranjodh Gill. Fast Five Quiz: Presentation and Diagnosis of Pompe Disease - Medscape - Mar 17, 2023.