What is the treatment for Gaucher disease?

Most people who have types 1 and 3 Gaucher disease can get enzyme replacement therapy. This therapy is given through a vein and can shrink the size of the liver and spleen. Enzyme therapy also can ease problems with the bones, eyes, breathing, and blood. In people who have anemia, blood transfusions can help. Bone marrow transplants can be done, but only in rare cases and is never necessary in type 1 Gaucher disease. Surgery to remove the spleen also can be done in rare cases. The brain damage in people with types 2 and 3 Gaucher disease cannot be treated.Recently, a new treatment has become available for people with type 1 Gaucher disease which is called substrate reduction therapy. This treatment is given orally in the form of pills and many patients with type1 Gaucher disease are eligible for this treatment. This therapy is not available for people with type 2 and 3 Gaucher disease.

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