Fabry Disease

Definition

Fabry disease is a metabolic disorder that is part of a group known as lysosomal storage diseases. It causes fatty substances to 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.

Causes

Fabry disease is caused by low levels of an enzyme called alpha galactosidase-A due to a problem in the genes. 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.

Risk Factors

A factor that may increase your risk of Fabry is having family members with the disease.

Symptoms

Symptoms may begin in childhood or early adulthood. Common symptoms include:

  • Pain and burning sensations in the hands and feet—often provoked by exercise, fatigue, or fever
  • Spotted, dark red skin lesions generally found between the belly button and the knees
  • Inability to sweat
  • Changes in the eyes—clouding of the lens of the eye or cataracts
  • Hearing loss
  • Delayed puberty or delayed growth
Cataracts
Cataracts
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As adults, males may have the following complications due to blood vessel blockage:

Stroke
Stroke
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Diagnosis

Your doctor will ask 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 alpha galactosidase-A enzyme or DNA test can confirm Fabry disease.

Treatment

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 prescription medications
  • Medications to treat stomach hyperactivity
  • Blood 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) 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

Prevention

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.

Revision Information

  • 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: https://dynamed.ebscohost.com/about/about-us. Updated May 7, 2013. Accessed August 14, 2013.

  • 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 https://dynamed.ebscohost.com/about/about-us: 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.