Gaucher Disease is a genetically inherited condition and occurs in 3 different types, 1, 2 and 3. While the more commonly found is Type and Types 2 can also be rarely observed and are considered more serious than Type 1. The swollen belly, bleeding and bruises are the more frequently seen symptoms and the problem manifests in the blood not clotting well.
HOW IS GAUCHER DISEASE DIAGNOSED?
The doctor, usually a General Physician will want to understand the symptoms, how long the symptoms have been in existence and also the family history, especially of Gaucher Disease. If detected in childhood, a Pediatrician will look into the problem. Blood tests are essential to make a final confirmation.
HOW IS GAUCHER DISEASE TREATED?
There is no treatment for Gaucher Disease, but the symptoms can be controlled so that no permanent damage is caused to organs. Replacing enzymes and inhibiting production of problem substances helps fight the symptoms. Blood cells damaged by Gaucher Disease are replaced by bone marrow transplantation. Spleen removal may be required for excessively enlarged spleen
DID YOU KNOW?
Gaucher Disease is an inherited disorder that can appear at any age