Resumo

SOUSA, Débora; GONCALVES, Bebiana  e  HORTA, Alexandra Bayão. Fabry Disease: New Diagnosis of a Family. Medicina Interna [online]. 2021, vol.28, n.1, pp.28-31.  Epub 15-Mar-2021. ISSN 0872-671X.  https://doi.org/10.24950/cc/268/20/1/2021.

Fabry’s disease is a rare inherited disease, linked to the X chromosome, that results from a deficiency of alfa‐galactosidase A activity. We report the case of a 59-year-old -man admitted in the emergency department after a fall herald by chest pain. Cardiac ultrasound showed exuberant left ventricle hypertrophy and complementary study with cardiac magnetic resonance showed intramyocardial fibrosis. The rest of the study also showed a proteinuria of 2.15 g/24 hours. Past medical history highlighted an ischemic stroke at 50 years-old and vasospastic angina at 52 years-old. He also reported many years of symptoms compatible with acroparesthesias and had angiokeratomas since childhood. Suspecting Fabry’s disease, we measured the blood levels of alpha-galactosidase A, which showed a severe reduction in enzyme activity, confirming the diagnosis. Genetic study showed the p.G35E mutation in the alpha-galactosidase gene in our patient, his three daughters and one grandchild.

Palavras-chave : alpha-Galactosidase; Fabry Disease; Rare diseases.

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