April 28, 2017
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Fabry's Disease (cont.)

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What are the symptoms of Fabry disease?

Symptoms of Fabry disease include:

  • Episodes of pain and burning sensations in the hands and feet (acroparesthesias) that can be triggered by exercise, stress, fatigue, fever, or changes in weather
  • Small, dark red spots on the skin (angiokeratomas), mostly in clusters from the belly button to the knees
  • Decreased ability to sweat
  • Cloudiness of the front part of the eye
  • Problems with the gastrointestinal system
  • Ringing in the ears (tinnitus)
  • Hearing loss
  • Mitral valve prolapse
  • Abdominal discomfort
  • Frequent bowel movements after eating
  • Joint pain
  • Back pain in the kidney area

Complications of Fabry disease include kidney damage, heart disease and heart attack, and strokes.

What causes Fabry disease?

Fabry disease is a genetic disorder. A genetic disorder is caused by a mutation, or change, in a part of a person's DNA. In Fabry disease the defective gene is on the X-chromosome, which is one of two sex chromosomes.  Sex chromosomes determine a person's gender at birth. Everyone inherits one sex chromosome from each parent. Mothers pass on only X chromosomes while fathers can pass on either an X or a Y chromosome. The chromosome passed on by the father then determines the sex of the offspring: females have two X chromosomes (XX), and males have one X chromosome and one Y chromosome (XY). Fabry disease affects mostly males, who receive one X chromosome with the abnormal gene. Females with Fabry disease also receive one X chromosome with the defective gene, however, since females have two X chromosomes, the normal X chromosome can offer some protection against developing the disorder.

Fabry disease is caused by a genetic mutation resulting in a deficiency of an enzyme called alpha-galactosidase A (a-Gal A). The genetic defect causes the body to not make enough of this enzyme leading to a buildup of a type of fat called globotriaosylceramide (Gb3, or GL-3) in the body cause the symptoms of Fabry disease.

Medically Reviewed by a Doctor on 6/30/2016

Source: MedicineNet.com

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