Fabry Disease
What is Fabry disease?
Fabry disease is caused by the lack of or faulty enzyme needed to metabolize
lipids, fat-like substances that include oils, waxes, and fatty acids. The
enzyme is known as ceramide trihexosidase, also called alpha-galactosidase-A. A
mutation in the gene that controls this enzyme causes insufficient breakdown of
lipids, which build up to harmful levels in the eyes, kidneys, autonomic nervous
system, and cardiovascular system. Since the gene that is altered is carried on
a mother's X chromosome, her sons have a 50 percent chance of inheriting the
disorder and her daughters have a 50 percent chance of being a carrier.
What are the symptoms of Fabry disease?
Some
women who carry the genetic mutation may have symptoms of the disease. Symptoms
usually begin during childhood or adolescence and include:
- burning sensations in
the hands that gets worse with exercise and hot weather, and
- small, raised
reddish-purple blemishes on the skin.
Some boys will also have eye
manifestations, especially cloudiness of the cornea.
Lipid storage may lead
to impaired arterial circulation and increased risk of heart attack or stroke.
The heart may also become enlarged and the kidneys may become progressively
involved.
Other symptoms include:
Fabry disease is one of several lipid
storage disorders.
Next: Is there any treatment for Fabry disease? »
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