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

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

The risk of this problem is higher in people who have family members who have it.

Symptoms

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

  • Pain and burning feeling in the hands and feet
  • Spotted, dark reddish-purple skin wounds between the belly button and the knees
  • Sweating more or less
  • Problems seeing
  • Slowed growth
  • Ringing in the ears
  • A feeling of spinning when a person is not moving

As adults, men may have:

  • Swelling in the legs and feet
  • Irregular heartbeat
  • Frequent stools, diarrhea
  • Problems breathing

Stroke
Stroke

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Diagnosis

The doctor will ask about your symptoms and health history. A physical exam will be done. This is often enough to make the diagnosis.

Your blood may be tested. This can confirm the disease.

Treatment

There is no cure. The goal is to manage symptoms.

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 to help the kidneys filter wastes and water from the blood
  • Kidney transplantation to replace a kidney that has failed

Prevention

There is no known way to prevent Fabry disease.

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

Health Canada
https://www.canada.ca

REFERENCES:

Fabry disease. EBSCO DynaMed website. Available at: https://www.dynamed.com/condition/fabry-disease. Accessed November 4, 2020.

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 November 4, 2020.

Nagueh SF. Anderson-Fabry disease and other lysosomal storage disorders. Circulation. 2014 Sep 23;130(13):1081-1090.

Last reviewed September 2020 by EBSCO Medical Review Board Kari Kassir, MD  Last Updated: 11/4/2020