Fabry Disease
Fabry disease (pronounced "fab-ray") affects about 1 in 40,000
people of all ethnic backgrounds. Fabry disease is caused by an absence
or shortage of the enzyme alpha-galactosidase A ("al-fuh guh-lack-toe-sy-daze
A"), which normally breaks down certain fats, particularly one
called GL-3 (globotriaosylceramide). This chemical breakdown happens
inside of the lysosomes of the body's cells. If the alpha-galactosidase
A enzyme is absent or in short supply, the substance GL-3 can not be
broken down. Instead, GL-3 builds up in the lysosomes in the walls of
blood vessels inside of the kidney, heart, brain, eyes, and other organs.
The build-up of GL-3 results in Fabry disease. Symptoms include pain
in the hands or feet, clusters of reddish-purple marks on the skin (angiokeratomas),
digestive problems, and later in the disease, stroke, heart disease,
and kidney failure. The symptoms of Fabry disease vary from person to
person and may be mild or severe. Symptoms often appear in childhood
and adolescence; however, most people with Fabry disease are not correctly
diagnosed until adulthood, when life-threatening complications develop.
Lifespan in people with Fabry disease is generally shorter than normal;
about half (50%) of all affected people live past age 50.
- Burning pain in the hands and/or feet
- Absence of/decrease in sweating
- Angiokeratomas (reddish-purple marks on skin)
- Hearing loss
- Unusual appearance to cornea (front of eye)
- Abdominal cramping/diarrhea after eating
- Kidney disease, leading to kidney failure
- Heart disease at an early age
- Stroke at an early age
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