WHAT IS GAUCHER DISEASE?
Gaucher Disease is an inherited disorder resulting from a specific enzyme deficiency in the body.
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.
WHAT ARE THE SIGNS & SYMPTOMS?
- Delayed growth in children
- General weakness
- Easily-fractured bones
- Bleeding problems such as nosebleeds
- Easy bruising
- Enlarged spleen or liver
- Bone pain
- Low platelet count
HOW IS IT 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.