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Gaucher Disease

Gaucher disease is the most common of the inherited metabolic disorder known as lipid storage diseases. Lipids are fatty materials that include oils, fatty acids, waxes, and steroids (such as cholesterol and estrogen). Gaucher disease is caused by a deficiency of the enzyme glucocerebrosidase. Fatty materials can accumulate in the spleen, liver, lungs, bone marrow, and brain. Symptoms may include skeletal disorders, enlarged spleen and liver, liver malfunction, anemia, and yellow spots in the eyes. There are three clinical subtypes of Gaucher disease. The first category, called type 1 (or nonneuropathic), is the most common. Symptoms may begin early in life or in adulthood. People in this group usually bruise easily due to low blood platelets and experience fatigue due to anemia. They also have an enlarged liver and spleen, skeletal disorders, and, in some instances, lung and kidney impairment. There are no signs of brain involvement. Symptoms can appear at any age. Many individuals may have a mild form of the disorder and not show any symptoms. In type 2 Gaucher disease (acute infantile neuropathic Gaucher disease), liver and spleen enlargement are apparent by 3 months of age. Individuals usually die before 2 years of age. In the third category, called type 3 (or chronic neuropathic Gaucher disease), liver and spleen enlargement is variable, and signs of brain involvement such as seizures gradually become apparent. Major symptoms also include skeletal irregularities, eye movement disorders, seizures, respiratory problems and blood disorders.

Is there any treatment?

Enzyme replacement therapy is available for most people with types 1 and 3 Gaucher disease. Given intravenously every two weeks, this therapy decreases liver and spleen size, reduces skeletal anomalies, and 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 the procedure carries a high risk and is rarely performed. Surgery to remove the spleen may be required on rare occasions, and blood transfusions may benefit some anemic patients. Other patients may require joint replacement surgery to improve mobility and quality of life. There is no effective treatment for severe brain damage that may occur in persons with types 2 and 3 Gaucher disease.

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*Information from National Institutes of Health (NIH)