A Review of Fabry Disease

Brandon Chan; David N. Adam, MD, FRCPC, DABD


Skin Therapy Letter. 2018;23(2):4-6. 

In This Article

Abstract and Introduction


Fabry disease (FD) is an X-linked lysosomal storage disease. A lack of alpha-galactosidase activity results in the accumulation of globotriaosylceramide in cells of various systems, leading to multi-systemic effects. The cutaneous hallmark of FD is a specific distribution of angiokeratoma. Other common symptoms include cornea verticillata, acroparesthesia, and sweating abnormalities. FD-specific symptoms, history, as well as examination of angiokeratoma can assist in the differential diagnosis. Enzyme replacement therapy is the current mainstay of treatment.


Fabry disease (FD) is an X-linked lysosomal storage disease, affecting glycosphingolipid metabolism. The cause of FD is a variety of mutations in the GLA gene on the X chromosome (Xq22.1), resulting in a deficiency of the lysosomal enzyme alpha-galactosidase A (AGAL). This leads to the progressive accumulation of globotriaosylceramide (GL3) in cells throughout the body, causing multi-systemic effects.[1] The incidence of FD in the general population is estimated to be 1:117,000.[2]