Doença de Fabry: diagnóstico inaugural de uma família

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.