Gaucher Disease is a condition where the fatty substances accumulated in the body tend to form a coating over the bones, organs and even the spleen area. The most common symptoms here include pain in the abdomen area, blood disorders followed with skeletal abnormalities. However, the risks here are that the same impacts the brain too.
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?
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.