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- Patient Comments: Fabry Disease - Symptoms
- Patient Comments: Fabry Disease - Treatment
- Fabry disease definition and facts
- What is Fabry disease?
- What are the symptoms of Fabry disease?
- What causes Fabry disease?
- How is Fabry disease inherited?
- What is the prevalence or incidence of Fabry disease?
- Which specialties of doctors treat Fabry disease?
- Is there a test to diagnose Fabry disease?
- What is the treatment for Fabry disease?
- What is the life expectancy for a person with Fabry disease?
- What other names are Fabry disease called?
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.