Fabry Disease: New Diagnosis of a Family
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.
| Auteurs principaux: | , , |
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| Format: | Digital revista |
| Langue: | English |
| Publié: |
Sociedade Portuguesa de Medicina Interna
2021
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| Accès en ligne: | http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-671X2021000100028 |
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