A Review of Fabry Disease

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


Skin Therapy Letter. 2018;23(2):4-6. 

In This Article


FD is a multisystem X-linked lysosomal storage disease. The most common cutaneous manifestation is diffuse angiokeratomas. Family history of FD and common symptoms, including cornea verticillata, neuropathic pain, and sweating abnormalities, can be used to confirm an FD diagnosis. ERT has shown to be an effective form of treatment to alleviate cardiac, renal, and cutaneous effects of FD. Overall, dermatologists should always consider FD as a potential diagnosis in the presence of angiokeratomas, and ERT administered promptly upon confirmation of FD as the causative disease.