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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 involves an enzyme replacement therapy that will help in reducing liver or spleen size as well as reduce skeletal abnormalities. The treatment is very expensive with an average cost of $200,000 annually till the life of the patient. The enzyme replacement therapy involves use of the intravenous recombinant glucocerebrosidase, which is regarded as an orphan drug due to its low incidence.
DID YOU KNOW?
The disease is named after a French doctor Philip Gaucher, who first recognized it in 1882.