An overview of Fabry Disease: literature review

Abstract

Objective: To analyze the characteristics of Fabry Disease (FD). Bibliographic Review: FD is an X-linked lysosomal storage disease caused by mutations in the GLA gene responsible for encoding the lysosomal enzyme alpha-galactosidase A(α-GAL). The resulting accumulation of globotriaosylceramide (Gb-3) leads to multisystem diseases, including progressive chronic kidney disease, hypertrophic cardiomyopathy, stroke, angiokeratomas, and corneal whorls. The cause of the disease is a variety of mutations in the GLA gene. The incidence of FD in the general population is estimated to be 1:117,000, but genetic tests on examinations of recent newborns suggest that the prevalence may be as high as 1:1,400. Final considerations: Fabry Disease is an X-linked lysosomal storage disorder caused by mutations in the GLA gene, which leads to a wide range of clinical manifestations. Her current therapy is Enzyme Replacement Therapy (ERT) (alpha agalsidase and beta agalsidase) and the companion Migalastat, an oral pharmacological chaperone. In this context, due to X-linked inheritance, family history is important and genetic counseling is recommended for all families with a member who has FD.