Fabry’s disease

Abstract

Fabry disease (FD) is an X-linked lysosomal storage disorder caused by reduced or absent activity of the hydrolase α-galac-tosidase A (αGAL) enzyme due to mutations in the gene encoding the αGAL protein. Patients with FD are not able to cata-bolize glycosphingolipids, especially globotriaosylceramide and the lyso-globotriaosylceramide which therefore accumulates in cells throughout the body, mainly in the heart, blood vessels, central nervous system, peripheral nerves, kidneys and skin. In some patients, FD involvement is limited to the heart. Cardiac involvement in FD may be expressed as progressive left ventricular hypertrophy, coronary artery disease, fibrosis, atrioventricular conduction disturbances, arrhythmias, and valvular involvement, which can lead to death from heart failure and sudden cardiac death. Therefore, it is important for us cardiologists to be involved in the detection of patients with FD because cardiovascular complications represent the main cause of FD-re-lated morbidity and mortality. One of the main contributions that cardiologists can provide is to complete family screening to detect signs of early cardiac involvement in young patients, who will benefit the most from specific therapies for FD before irreversible organ damage occurs.