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Signs and Symptoms of Fabry Disease

Fabry disease manifests variably

Fabry disease is a progressive, multisystemic disease1 with serious symptoms and patterns of presentation.2 These include2:

  • Cardiac disease, such as left ventricular hypertrophy, valvular disease, and rhythm disturbances
  • Cerebrovascular symptoms, including dizziness or vertigo, transient ischemic attacks, and stroke
  • Renal disease, typically requiring dialysis or transplantation after prolonged disease

Other early signs of Fabry disease include3:

Neurological symptoms

  • Pain3
  • Acroparesthesia (abnormal tingling or burning sensation in the extremities)3
  • Episodic “Fabry crises” of acute pain (often in hands and feet, accompanied by fever that may last hours to days)2,3

Dermatological conditions

  • Angiokeratomas (reddish-purple, non-blanching maculopapular lesions)2,3

Gastrointestinal symptoms

  • Abdominal pain1,2,4
  • Bloating4
  • Diarrhea1,2,4
  • Constipation1
  • Early satiety4

Other signs and symptoms

  • Hypohidrosis (too little sweat, affecting regulation of body temperature)2,3
  • Heat and/or cold intolerance2
  • Exercise intolerance2
  • Corneal verticillata (whorls in the cornea)2,3
As Fabry disease progresses, major organ system dysfunction may worsen.
This may lead to a shortened lifespan and death, most often from cardiovascular complications, cerebrovascular complications, or renal failure.1,5
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References:

  1. Mehta A, Beck M, Eyskens F, et al. Fabry disease: a review of current management strategies. QJM. 2010;103(9):641-659.
  2. 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.
  3. Germain DP. Fabry disease. Orphanet J Rare Dis. 2010;5:30.
  4. Keshav S. Gastrointestinal manifestations of Fabry disease. In: Mehta A, Beck M, Sunder-Plassmann G, eds. Fabry Disease: Perspectives From 5 Years of FOS. Oxford, England: Oxford PharmaGenesis; 2006: Chapter 28. NCBI website. http://www.ncbi.nlm.nih.gov/books/NBK11570. Accessed August 26, 2019.
  5. Mehta A, Clarke JT, Giugliani R, et al. Natural course of Fabry disease: changing pattern of cause of death in FOS – Fabry Outcome Survey.
    J Med Genet. 2009;46(8):548-552.