Fabry’s Disease

Abstract

Fabry’s disease, also called angiokeratoma corporis diffusum universale, is an X-linked recessive condition of males. It is due to an inborn error of glycolipid metabolism due to a deficiency of the enzyme α-galactosidase and where ceramide trihexose is stored in tissues. Typically, these patients have cutaneous angiokeratomas and whorl-like corneal dystrophy. Painful febrile episodes, renal failure, and cardiovascular disease develop. The accumulation of the ceramide trihexose in tissues creates the clinical picture. In addition to the corneal whorls, there are associated anterior and posterior capsular lens changes, conjunctival vascular changes, and a tortuosity of the retinal vasculature.