Rare presentation and wide intrafamilial variability of Fabry disease: A case report and review of the literature

Fabry disease (FD) is an X-linked genetic disease caused by mutations in the GLA gene, which encodes α-galactosidase A, leading to an intralysosomal accumulation of globotriaosilceramide (Gb3) in a wide variety of cells. Thus, FD usually presents with multiorgan damage: cardiac (hypertrophic cardiomyopathy), renal (chronic kidney disease, proteinuria), neurological (stroke, acroparesthesia), cutaneous (angiokeratoma), and ophthalmic (cornea verticillate) (1). Although FD is X-linked, women with specific mutations are not only carriers, as it was previously expected, but most of them develop manifestations somewhat later in life than men (2, 3), due to a mosaic inactivation of the X chromosome. It is of the utmost importance to follow the FD diagnosis with a complete family screening, which can lead to timely diagnosis in other family members.