How is Gaucher disease treated?

There are treatments available to help manage some of the symptoms of Gaucher disease, but there is no cure for the disease. The two treatments that are available are enzyme replacement therapy (ERT) and substrate reduction therapy (SRT). Some people with Gaucher disease won’t require any treatment at all. Doctors and scientists are working hard all the time to make new treatments to help people with Gaucher disease.

Highly effective enzyme replacement therapy is available for most patients with types 1 and 3 Gaucher disease. This therapy decreases liver and spleen size, reduces skeletal anomalies, and successfully reverses other symptoms of the disorder, including abnormal blood counts. Bone marrow transplantation (a procedure to replace damaged or destroyed blood-forming cells) can reverse the non-neurological effects of type 1 Gaucher disease, but it carries a high mortality rate due to imperfect donor matches. This procedure has been replaced by enzyme replacement therapy. There is no effective treatment for severe brain damage that may occur in patients with types 2 and 3 Gaucher disease.

This answer is based on source information from the National Institute of Neurological Disorders and Stroke.

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