Fabry disease is a metabolic disorder
that is part of a group known as lysosomal storage diseases.
build up in the blood and blood vessels. The buildup slows or blocks blood flow to the organs. It can cause problems in the skin, kidneys, heart, and nervous system.
is caused by low levels of an enzyme called alpha galactosidase-A. This enzyme is needed to break down fatty substances.
The specific genes that create the enzymes are faulty. The faulty gene is inherited from the parents.
Males who inherit the defective gene will have the disease. Females who have a single copy of the gene are called carriers. Most will not develop any symptoms, but they can pass the gene to their offspring. However, some women do have symptoms. On occasion, women may be as severely affected as men.
Factors that may increase your chance of Fabry disease include: Having family members with the diseaseHaving a family history of kidney failure
Symptoms may begin in childhood or early adulthood. Common symptoms include: Pain and burning sensations in the hands and feet—often worse during exercise, fatigue, or feverSpotted, dark reddish-purple skin lesions between the belly button and the kneesDecreased sweating
Vision problems Hearing lossDelayed puberty or delayed growth
As adults, males may have the following complications due to blood vessel blockage: Severe kidney problems
heart attackHigh blood pressureHeart failure, left ventricular hypertrophyMitral valve prolapse
Frequent bowel movements after eatingDiarrheaJoint or back painRinging in the ears
or shortness of breath
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You will be asked about your symptoms and medical history. A physical exam will be done. Diagnosis is usually made based on the symptoms listed above. A test to measure the
enzyme or DNA test can confirm Fabry disease.
There is no cure for Fabry disease. There is a medication to treat the condition. The medication works as an enzyme replacement. It is given through an IV at regular intervals.
Treatment may also involve other medications to reduce symptoms such as: Pain medications—may be over-the-counter or prescriptionMedications to treat stomach hyperactivityBlood thinners and medication to manage arrhythmias and other heart disorders
The kidneys may be damaged from blood flow problems. They may require: Angiotensin-converting enzyme (ACE) inhibitors and/or an angiotensin receptor blockers (ARBs)—to stabilize kidney functionHemodialysis—if the kidneys are not able to function fullyKidney transplantation—if kidney failure has occurred
There is no known way to prevent Fabry disease. Consider genetic counseling if you have Fabry disease or have a family history of the disorder. The counselor can show you the risk of passing the condition on to your child.
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:
Updated October 6, 2011. Accessed August 14, 2013.
7/13/2014 DynaMed's Systematic Literature Surveillance
http://www.ebscohost.com/dynamed. Laney DA, Bennett RL, Clarke V, et al. Fabry disease practice guidelines: recommendations of the National Society of Genetic Counselors. J Genet Couns. 2013;22(5):555-564.
Last reviewed June 2015 by Michael Woods, MD
Please be aware that this information is provided to supplement the care provided by your physician. It is neither intended nor implied to be a substitute for professional medical advice. CALL YOUR HEALTHCARE PROVIDER IMMEDIATELY IF YOU THINK YOU MAY HAVE A MEDICAL EMERGENCY. Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with any questions you may have regarding a medical condition.
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