Fabry Disease

(Alpha-Galactosidase A Deficiency; Anderson-Fabry Disease; Angiokeratoma Corporis Diffusum; Angiokeratoma Diffuse; Ceramide Trihexosidase Deficiency; GLA Deficiency; Glycolipid Lipidosis; Hereditary Dystopic Lipidosis)

Definition

Fabry disease is a health problem that causes fatty materials to build up in the blood and blood vessels. The buildup slows or blocks blood flow to organs.

Causes    TOP

Fabry disease is caused by changes in a gene. The faulty gene passed on by the mother.

Males with the faulty gene will have the disease. Females who have a single copy of the gene are called carriers. Most will not have any symptoms, but they can pass the gene to their children. Some women may be as affected as men.

Risk Factors    TOP

You are at risk if you or someone in your family has this disease.

Symptoms    TOP

Symptoms may start when you are a child or young adult. Common ones are:

  • Pain and burning feeling in the hands and feet—often worse with exercise, lack of energy, or fever
  • Spotted, dark reddish-purple skin wounds between the belly button and the knees
  • Sweating more or less
  • Problems seeing
  • Delayed growth
  • Ringing in the ears
  • A feeling of spinning when you are not moving

As adults, men may have:

  • Kidney problems
  • Heart problems
  • Frequent stools, diarrhea
  • Problems breathing

Stroke

Stroke
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Diagnosis    TOP

You will be asked about your symptoms and health history. A physical exam will be done. Diagnosis is usually made based on symptoms. Your blood may be tested. This can confirm the disease.

Treatment    TOP

There is no cure for Fabry disease.

You may be given medicine to:

  • Replace enzymes
  • Treat pain
  • Thin your blood
  • Manage heart problems

The kidneys may be harmed from blood flow problems. They may need:

  • Angiotensin-converting enzyme (ACE) inhibitors and/or an angiotensin receptor blockers (ARBs)—to stabilize kidney function
  • Hemodialysis —if they aren't working properly
  • Kidney transplantation —if kidney failure has happened

Prevention    TOP

There is no known way to prevent Fabry disease.

Consider counseling if you or someone in your family has Fabry disease. The counselor can show you the risk of passing it on to your child.

RESOURCES:

Fabry Support and Information Group
http://www.fabry.org
National Institute of Neurological Disorders and Stroke
http://www.ninds.nih.gov

CANADIAN RESOURCES:

Canadian Fabry Association
http://www.fabrycanada.com

References:

Fabry disease. EBSCO DynaMed Plus website. Available at: http://www.dynamed.com/topics/dmp~AN~T114633/Fabry-disease . Updated March 9, 2017. Accessed July 2, 2018.
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: https://www.ninds.nih.gov/disorders/all-disorders/fabry-disease-information-page. Accessed July 2, 2018.
7/13/2014 DynaMed Plus Systematic Literature Surveillance http://www.dynamed.com/topics/dmp~AN~T114633/Fabry-disease . 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 May 2018 by Kari Kassir, MD
Last Updated: 7/2/2018

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