Stephen J. Schueler, M.D.

Overview Symptoms Treatment Underlying Cause Genetics

Fabry's Disease Overview

What is Fabry's disease?
A male with Fabry's disease has an inherited disorder that damages blood vessels. The illness is due to the lack of an enzyme that breaks down a toxic chemical inside blood vessel cells. Fabry's disease results in cataracts, dry skin, skin lesions and extremity pain during childhood.

What are the symptoms of Fabry's disease?
Symptoms of Fabry's disease during childhood include vision impairment, cataracts, decreased sweating, limb pain, arm pain, leg pain and rash.

How does the doctor treat Fabry's disease?
Treatment for Fabry's disease includes medications for pain and medications that block the deposition of toxic chemical in the blood vessels.

Continue to Fabry's Disease Symptoms

Last Updated: Apr 23, 2010 References
Authors: Stephen J. Schueler, MD; John H. Beckett, MD; D. Scott Gettings, MD
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PubMed Fabry's Disease References
  1. Lacomis D, Roeske-Anderson L, Mathie L. Neuropathy and Fabry's disease. Muscle Nerve. 2005 Jan;31(1):102-7. [15389653]
  2. Mignani R, Cagnoli L. Enzyme replacement therapy in Fabry's disease: recent advances and clinical applications. J Nephrol. 2004 May-Jun;17(3):354-63. [15365954]
  3. Pleasure D. New treatments for denervating diseases. J Child Neurol. 2005 Mar;20(3):258-62. [15832625]
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