Health A-Z

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Harvard Medical School

Gaucher Disease

Treatment

GD is caused by low levels of the glucocerebrosidase enzyme, so the best treatment is enzyme replacement therapy (ERT) with a synthetic enzyme called imiglucerase (Cerezyme). The synthetic enzyme is given as an intravenous (IV) drug. Regular IV infusions of imiglucerase have been demonstrated to be safe and effective in reversing low blood cell counts, and enlargement of the liver and spleen.

Approximately 10% to 15% of people develop antibodies to the replacement enzyme, although in most cases these people remain symptom-free. A newer treatment, Miglustat, is available for people who stop responding to ERT. Miglustat is taken by mouth, and helps decrease the enlarged liver and spleen, strengthen the bones, and may improve other symptoms as well.

People with type 1 GD and type 3 GD live longer than people with type 2 GD. Over time, people with type 1 and type 3 may become resistant to the effect of medications. In those cases, bone marrow transplantation may be recommended.

Other treatments may help relieve the symptoms of GD, but they won't combat the cause. For example, surgery to remove the spleen helps some patients because an enlarged spleen can destroy platelets as they pass through the spleen. Blood transfusions can treat severe anemia. Bone pain can be treated with pain medication. Sometimes, joint replacement surgery is needed. Medications that help increase bone density can also be helpful in some people. Of the medications that increase bone density, the most commonly used ones are the bisphosphonates, such as alendronate (Fosamax), ibandronate (Boniva) and risedronate (Actonel).