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Understanding the
Complexities of Fabry Disease

Fabry disease is a progressive, multisystemic, X-linked lysosomal disorder caused by mutations in the galactosidase alpha gene (GLA).1,2 Fabry disease has a wide spectrum of symptoms that may present differently in each affected individual, and can be a significant burden regardless of presentation.1,2

INTERACTIVE ORGAN MAP

Learn About the Effects
of Fabry Disease

See how Fabry disease can affect
the various organ systems.

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GENOTYPES AND PHENOTYPES

See Patient Case Examples

Learn how Fabry disease can be
experienced differently by each individual.

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FabryFacts.com is committed to providing information and resources about Fabry disease to support healthcare professionals in diagnosing and caring for patients with Fabry disease.

References:

  1. Desnick RJ, Brady R, Barranger J, et al. Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy. Ann Intern Med. 2003;138(4):338-346.
  2. Mehta A, Beck M, Eyskens F, et al. Fabry disease: a review of current management strategies. QJM. 2010;103(9):641-659.
  3. Wanner C, Arad M, Baron R, et al. European expert consensus statement on therapeutic goals in Fabry disease. Mol Genet Metab. 2018;124(3):189-203.
  4. Mehta A, Clarke JT, Giugliani R, et al. Natural course of Fabry disease: changing pattern of causes of death in FOS - Fabry Outcome Survey. J Med Genet. 2009;46(8):548-552.