Complicated aortic involvement in late-onset Pompe disease. Should we treat it?
DOI:
https://doi.org/10.32818/reccmi.a9n3a13Keywords:
glycogen storage disease type II, cardiovascular abnormalities, enzyme replacement therapyAbstract
Late-onset Pompe disease (LOPD) is a rare disorder characterized by glycogen accumulation in muscle tissue. We
present the case of a patient with aortic vascular involvement, manifested as an aortic ulcer and intramural hematoma.
Genetic testing confirmed mutations in the GAA (acid alpha-glucosidase) gene, and the patient was
diagnosed with LOPD. A conservative management approach was chosen, with strict blood pressure control. After
12 months, the patient’s condition remained stable without the need for enzyme replacement therapy. This case
highlights the importance of considering vascular complications in LOPD.
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