Detection of Fabry disease in patients with premature cardiovascular disease

Aim: Fabry disease (FD) is an X-linked hereditary disorder due to mutations in alpha-galactosidase A ( α-Gal A) that leads to an accumulation of globotriaosylceramide (Gb3) in lysosomes. FD real incidence is unknown and varies between 1/40000 men with the classic phenotype and 1/3000 newborn is screening programmes. It is a multisystemic disease and the cardiovascular damage is a frequent cause of p remature death. The most of the deaths are due to stroke or hypertrophic miocardiopathy but, atherosclerotic lesions have been well described.

Source: Atherosclerosis - August 1, 2018 Category: Cardiology Authors: M. Fanlo, M.A. Rodr íguez, B. Candas, H. Lafuente, X. Corbella, E. Corbella, A. Padro, X. Pinto Source Type: research