Fabry Disease: New Diagnosis of a Family

• Autor(a) principal: Sousa,Débora
• Data de Publicação: 2021
• Outros Autores: Gonçalves,Bebiana, Horta,Alexandra Bayão
• Tipo de documento: Relatório
• Idioma: eng
• Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
• Texto Completo: http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-671X2021000100028
• topic: alpha-Galactosidase; Fabry Disease; Rare diseases

Abstract: 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.