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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 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?
Another form of Gaucher disease is known as the cardiovascular type because it primarily affects the heart, causing the heart valves to harden (calcify). People with the cardiovascular form of Gaucher disease may also have eye abnormalities, bone disease, and mild enlargement of the spleen (splenomegaly).