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NINDS Gaucher Disease Information Page


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What is 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. (The U.S. Food and Drug Administration has approved taliglucerase alfa for long-term enzyme replacement in people with type 1 Gaucher disease.)  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.

What is the prognosis?

Enzyme replacement therapy is very beneficial for type 1 and most type 3 patients with this condition.

What research is being done?

The National Institute of Neurological Disorders and Stroke (NINDS), a part of the National Institutes of Health), supports research to find ways to treat and prevent lipid storage disorders. This research includes clinical studies by the NINDS Developmental and Metabolic Neurology Branch.

NIH Patient Recruitment for Gaucher Disease Clinical Trials

Organizations

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National Gaucher Foundation
2227 Idlewood Road, Suite 12
Tucker, GA   30084
ngf@gaucherdisease.org
http://www.gaucherdisease.org
Tel: 800-504-3189
Fax: 770-934-2911

Children's Gaucher Research Fund
P.O. Box 2123
Granite Bay, CA   95746-2123
research@childrensgaucher.org
http://www.childrensgaucher.org
Tel: 916-797-3700
Fax: 916-797-3707

National Organization for Rare Disorders (NORD)
55 Kenosia Avenue
Danbury, CT   06810
orphan@rarediseases.org
http://www.rarediseases.org
Tel: 203-744-0100 Voice Mail 800-999-NORD (6673)
Fax: 203-798-2291

National Tay-Sachs and Allied Diseases Association
2001 Beacon Street
Suite 204
Boston, MA   02135
info@ntsad.org
http://www.ntsad.org
Tel: 800-90-NTSAD (906-8723)
Fax: 617-277-0134



Prepared by:
Office of Communications and Public Liaison
National Institute of Neurological Disorders and Stroke
National Institutes of Health
Bethesda, MD 20892



NINDS health-related material is provided for information purposes only and does not necessarily represent endorsement by or an official position of the National Institute of Neurological Disorders and Stroke or any other Federal agency. Advice on the treatment or care of an individual patient should be obtained through consultation with a physician who has examined that patient or is familiar with that patient's medical history.

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Last updated July 5, 2013