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 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:
Stroke
Stroke
Copyright © Nucleus Medical Media, Inc.

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