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Skin Therapy Lett. 2018 Mar;23(2):4-6.

A Review of Fabry Disease.

Author information

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.

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

PMID:
29562089
[Indexed for MEDLINE]
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Conflict of interest statement

BC has no conflicts to disclose. DNA has been an advisory board member, investigator, speaker, consultant, or received honoraria from AbbVie, Actelion, Amgen, Boehringer, Celgene, Coherus, Dermira, Eli Lilly, Galderma, Incyte, Janssen, Leo, Novartis, Pfizer, Regeneron, Sanofi Genzyme, UCB, and Valeant.

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