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Gaucher Disease
> updated >2-5-06
What
is Gaucher Disease?
Gaucher Disease
is an inherited disorder resulting from a specific enzyme
deficiency in the body.
What
are the signs & symptoms?
- Delayed growth
in children
- General weakness
- Anemia
- Fatigue
- Easily-fractured
bones
- Bleeding problems
such as nosebleeds
- Easy bruising
- Enlarged spleen
or liver
- Bone pain
- Low platelet
count
Is
Gaucher Disease inherited?
It is caused
by a genetic mutation received from both parents. The most
common form of Gaucher Disease Type 1, affects one in 60,000
of the general population. It is also the most common genetic
disease affecting Ashkenazi Jews of Eastern European ancestry
at a rate of one in 500 people. The carrier rate for the mutations
which cause Gaucher Disease may be as high as one in 10 among
Ashkenazi Jews or one in 100 in the general population. Testing
is available to accurately diagnose those people who have
the disease or who may carry the gene.
How
is Gaucher Disease diagnosed?
Testing is available to diagnose
those people who have the disease or who may carry the gene.
This is done with a specialized blood test. To see who is
a carrier of the gene, a person's DNA is tested through a
blood sample. Prenatal diagnosis is also available.
How
is Gaucher Disease treated?
The missing enzyme can be replaced
by intravenous (IV) medication.
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