2. Academic Validation
  3. A Review of Fabry Disease

A Review of Fabry Disease

  • Skin Therapy Lett. 2018 Mar;23(2):4-6.
B Chan 1,  D N Adam 2
Affiliations

Affiliations

  • 1 McMaster University, Hamilton, ON, Canada.
  • 2 Baywood Dermatology, Ajax, ON, Canada; CCA Medical Research, Ajax, ON, Canada; St. Michael's Hospital, Toronto, ON, Canada; Division of Dermatology, Department of Medicine, University of Toronto, Toronto, ON, Canada; Probity Medical Research, Waterloo, ON, Canada.
PMID: 29562089
Abstract

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.

Keywords

enzyme replacement therapy; Fabry disease; alpha-galactosidase A; symptoms; treatment.

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