Fabry Disease

  • Medical Author:
    John P. Cunha, DO, FACOEP

    John P. Cunha, DO, is a U.S. board-certified Emergency Medicine Physician. Dr. Cunha's educational background includes a BS in Biology from Rutgers, the State University of New Jersey, and a DO from the Kansas City University of Medicine and Biosciences in Kansas City, MO. He completed residency training in Emergency Medicine at Newark Beth Israel Medical Center in Newark, New Jersey.

  • Medical Editor: William C. Shiel Jr., MD, FACP, FACR
    William C. Shiel Jr., MD, FACP, FACR

    William C. Shiel Jr., MD, FACP, FACR

    Dr. Shiel received a Bachelor of Science degree with honors from the University of Notre Dame. There he was involved in research in radiation biology and received the Huisking Scholarship. After graduating from St. Louis University School of Medicine, he completed his Internal Medicine residency and Rheumatology fellowship at the University of California, Irvine. He is board-certified in Internal Medicine and Rheumatology.

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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

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