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 condition may also cause cirrhosis of the liver but it is rare. About 75% of the people with this condition tend to develop osteoporosis. The condition is diagnosed based on the overall clinical picture. Enzyme testing may be done as a part of the diagnosis. Prenatal diagnosis is also available in case there is a high risk pregnancy and the parents are identified with this condition.
HOW IS GAUCHER DISEASE TREATED?
Treatment for the Gaucher disease includes using medications that helps in replacing the existing enzymes. Other medications like miglustat (Zavesca) and eliglustat (Cerdelga) are also given to restrict the problematic substances. In extreme cases, surgery may be required like Bone marrow transplantation or even spleen removal as the last resort.
DID YOU KNOW?
With earlier treatment, chances of recovery are higher and complications that arrive later along with diseases like arthritis can be avoided too.