Fabry disease and Stroke

Abstract

Fabry Disease (FD) is a genetic pathology related to the X chromosome (manifested predominantly in men and women carriers), caused by deficit of enzyme α-galactosidase A (also known as ceramide trihexoside) that catalyzes the hydrolytic cleavage of the terminal molecule of galactose from Gb3 (globotriaosylceramide). FD presents phenotypically as inadequate metabolism of glycosphingolipids, which affects cell membranes leading to multisystemic clinical manifestations. In addition to stroke, that mainly affects young patients, other frequent complications are renal, cardiac and dermatological. Due to its low prevalence, chronic and non-specific evolution, with manifestations in young adult life, it is difficult to identify it. Its diagnostic confirmation requires measurement of the activity of the enzyme α-galactosidase A, accumulation of globotriaosylceramide (Gb3), and/or genetic determination by mutation of the GLA gene (gene for galactosidase Xq22.1). At the moment, there is no curative treatment for FD, but there is symptomatic treatment and treatment for the sequelae it generates at the systemic level. The objective of this review is to offer a general overview of the epidemiologic, fisiopathologic and clinic aspects of the FD, with special interest in its expression as stroke, in order to suspect it as a differential diagnosis at the time of its valuation.