While there's no cure for Gaucher's disease, a variety of treatments can help control symptoms, prevent irreversible damage and improve quality of life. Some people have such mild symptoms that they may not need treatment.
Many people who have Gaucher's disease have seen improvements in their symptoms after beginning treatment with drugs that:
- Replace enzymes. This approach replaces the deficient enzyme with artificial enzymes. These replacement enzymes are administered in an outpatient procedure through a vein (intravenously), typically in high doses at two-week intervals. Occasionally people experience an allergic or hypersensitivity reaction to enzyme treatment.
- Inhibit production of the problem substances. Oral medications, such as miglustat (Zavesca) and eliglustat (Cerdelga), appear to interfere with the production of the fatty substances that build up in people with Gaucher's disease. Nausea and diarrhea are common side effects.
- Treat osteoporosis. These types of medications can help rebuild bone weakened by Gaucher's disease.
Surgical and other procedures
If your symptoms are severe and you're not a candidate for less invasive treatments, your doctor might suggest:
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- Bone marrow transplantation. In this procedure, blood-forming cells that have been damaged by Gaucher's are removed and replaced, which can reverse many of Gaucher's signs and symptoms. Because this is a high-risk approach, it's performed less often than is enzyme replacement therapy.
- Spleen removal. Before enzyme replacement therapy became available, removing the spleen was a common treatment for Gaucher's disease. Currently, this procedure is typically reserved as a last resort.
- Lichtman MA, et al. Williams Hematology. 8th ed. New York, N.Y.: The McGraw-Hill Companies; 2010. http://www.accessmedicine.com/resourceTOC.aspx?resourceID=69. Accessed Feb. 3, 2014.
- Goldman L, et al. Goldman's Cecil Medicine. 24th ed. Philadelphia, Pa.: Saunders Elsevier; 2012. http://www.clinicalkey.com. Accessed Feb. 3, 2014.
- Hochberg MC, et al. Rheumatology. 5th ed. Philadelphia, Pa.: Elsevier; 2011. http://www.clinicalkey.com. Accessed Feb. 3, 2014.
- Deegan P. Gaucher disease: Pathogenesis, clinical manifestations and diagnosis. http://www.uptodate.com/home. Accessed Feb. 3, 2014.
- Cassinerio E, et al. Gaucher disease: A diagnostic challenge for internists. European Journal of Internal Medicine. 2013: In press. Accessed Feb. 6, 2014.
- Deegan P. Gaucher disease: Treatment. http://www.uptodate.com/home. Accessed Feb. 6, 2014.