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. 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

Factors that may increase your chance of Fabry disease include:

• Having family members with the disease
• Having a family history of kidney failure

Symptoms

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 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

As adults, males may have the following complications due to blood vessel blockage:

• 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
• Diarrhea
• Joint or back pain
• Ringing in the ears or vertigo
• Chronic bronchitis or shortness of breath
• Osteoporosis

Diagnosis

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 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 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) inhibitors and/or an angiotensin receptor blockers (ARBs)—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.

National Institute of Neurological Disorders and Stroke http://www.ninds.nih.gov

Health Canada http://www.hc-sc.gc.ca

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.

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.