(Alpha-Galactosidase A Deficiency; Anderson-Fabry Disease; Angiokeratoma Corporis Diffusum; Angiokeratoma Diffuse; Ceramide Trihexosidase Deficiency; GLA Deficiency; Glycolipid Lipidosis; Hereditary Dystopic Lipidosis)
- Having family members with the disease
- Having a family history of kidney failure
- Pain and burning sensations in the hands and feet—often worse during exercise, fatigue, or fever
- Spotted, dark reddish-purple skin lesions between the belly button and the knees
- Decreased sweating
- Vision problems
- Hearing loss
- Delayed puberty or delayed growth
- Severe kidney problems
- Early stroke or heart attack
- High blood pressure
- Heart failure, left ventricular hypertrophy
- Mitral valve prolapse or insufficiency
- Frequent bowel movements after eating
- Joint or back pain
- Ringing in the ears or vertigo
- Chronic bronchitis or shortness of breath
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- Pain medications—may be over-the-counter or prescription medications
- Medications to treat stomach hyperactivity
- Blood thinners and medication to manage arrhythmias and other heart disorders
- Angiotensin-converting enzyme (ACE) inhibitor and/or an angiotensin receptor blocker—to stabilize kidney function
- Hemodialysis—if the kidneys are not able to function fully
- Kidney transplantation—if kidney failure has occurred
Fabry Support and Information Group (FSIG) http://www.fabry.org
National Institute of Neurological Disorders and Stroke http://www.ninds.nih.gov
Canadian Fabry Association http://www.fabrycanada.com
Health Canada http://www.hc-sc.gc.ca
Fabry disease. EBSCO DynaMed website. Available at: http://www.ebscohost.com/dynamed. Updated July 10, 2014. Accessed July 13, 2014.
Martins AM, D’Almeida V, Kyosen SO, et al. Guidelines to diagnosis and monitoring of Fabry disease and review of treatment experiences. J Pediatrics. 2009;155(4 Suppl):S19-S31.
NINDS Fabry disease information page. National Institute of Neurological Disorders and Stroke website. Available at: http://www.ninds.nih.gov/disorders/fabrys/fabrys.htm. Updated October 6, 2011. Accessed August 14, 2013.
12/20/2007 DynaMed's Systematic Literature Surveillance http://www.ebscohost.com/dynamed: 2007 safety alerts for drugs, biologics, medical devices, and dietary supplements: Carbamazepine (marketed as Carbatrol, Equetro, Tegretol and generics). Medwatch. US Food and Drug Administration website. Available at: http://www.fda.gov/medwatch/safety/2007/safety07.htm#carbamazepine.
7/13/2014 DynaMed's Systematic Literature Surveillance http://www.ebscohost.com/dynamed. Laney DA, Bennett RL, et al. Fabry disease practice guidelines: recommendations of the National Society of Genetic Counselors. J Genet Couns. 2013 Oct;22(5):555-564.
- Reviewer: Michael Woods, MD
- Review Date: 07/2014 -
- Update Date: 07/13/2014 -
This content is reviewed regularly and is updated when new and relevant evidence is made available. This information is neither intended nor implied to be a substitute for professional medical advice. Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with questions regarding a medical condition.
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