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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 an inherited genetic disorder caused by a defective gene. The disease causes fatty deposits in several organs of the body.

Males who inherit the defective gene will express the disease. Females who have a single copy of the gene are called "carriers," and most are asymptomatic (do not have symptoms). However, some women do have symptoms, and the severity of these symptoms can vary widely. On occasion women may be as severely affected as men.

Causes:
Fabry disease is caused by a deficiency of the enzyme alpha galactosidase-A, or GALA. GALA usually works to clear fatty substances called glycosphingolipids from the body. However, in Fabry disease, the absence of GALA causes this fatty substance to accumulate in the blood and blood vessel walls. This leads to constriction of blood flow through the vessels. Eventually, the decreased blood flow leads to problems of the skin, kidneys, heart, and nervous system.

Risk Factors:
A risk factor is something that increases your chance of getting a disease or condition. The primary risk factor for Fabry disease is having family members with the disease or who are carriers of the disease.

Symptoms:
Symptoms of Fabry disease may begin in childhood or early adulthood. Common symptoms include:
  • Pain and burning sensations in the hands and feet, often provoked by exercise and hot weather
  • Spotted dark red skin rash that occurs from the belly button to the knees
  • Inability to sweat
  • Changes in the eye that do not affect vision

As adults, males may experience the following Symptoms:

  • Kidney problems, often requiring dialysis or transplant
  • Risk of early stroke or heart attack
  • Mitral valve prolapse or other heart problems
  • Frequent bowel movements after eating
  • Joint or back pain
  • Ringing in the ears (tinnitus) or dizziness (vertigo)
Diagnosis:
Your doctor will ask about your symptoms and medical history, and perform a physical exam. Diagnosis is usually made on the basis of the symptoms listed above. A test to measure the enzyme GALA, or DNA analysis can confirm Fabry disease.

Treatment:
There is no cure for Fabry disease. But, in 2003 the US Food and Drug Administration approved the use a “Fabrazyme,” an enzyme replacement therapy as treatment for Fabry disease. While the long-term effects and risks of this treatment are not yet known, treatment is currently recommended for all adults with Fabry disease and for all adult women who are known carriers. Preliminary pediatric data is somewhat encouraging, but enzyme replacement in children is still an experimental procedure.

Currently, medications or procedures are used to treat symptoms of Fabry disease.

To Treat Pain
  • Carbamazepine (Tegretol)
  • Phenytoin (Dilantin)
To Treat Stomach Hyperactivity
  • Lipisorb
  • Metoclopramide (Reglan)
To Treat Certain Heart Disorders

Anticoagulants

To Treat Kidney Disease
  • Hemodialysis
  • Kidney transplantation
Prevention:
There is no known way to prevent Fabry disease. If you have Fabry disease or have a family history of the disorder, you can talk to a genetic counselor when deciding to have children.
 
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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