What is Gaucher's Disease?
Gaucher disease is an inherited metabolic disorder in which harmful
quantities of a fatty substance called glucocerebroside accumulate in the
spleen, liver, lungs, bone marrow, and sometimes in the brain. There are three
types of Gaucher disease. The first category, called type 1, is by far the most
common. Patients in this group usually bruise easily and experience fatigue due
to anemia and low blood platelets. 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. In type 2
Gaucher disease, liver and spleen enlargement are apparent by 3 months of age.
Patients have extensive and progressive brain damage and usually die by 2 years
of age. In the third category, called type 3, liver and spleen enlargement is
variable, and signs of brain involvement such as seizures gradually become
apparent. All Gaucher patients exhibit a deficiency of an enzyme called
glucocerebrosidase that is involved in the breakdown and recycling of
glucocerebroside. The buildup of this fatty material within cells prevents the
cells and organs from functioning properly. Gaucher disease is one of several
lipid storage diseases.
Is there any treatment?
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 This procedure has been replaced
by enzyme replacement therapy.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.
What is the prognosis?
Enzyme replacement therapy is very beneficial for type 1 patients 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.
Organizations
National Gaucher Foundation
2227 Idlewood Road, Suite 12
Tucker, GA 30084
ngf@gaucherdisease.org
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
www.childrensgaucher.org/
Tel: 916.797.3700
Fax: 916.797.3707
National Organization for Rare Disorders (NORD)
P.O. Box 1968
(55 Kenosia Avenue)
Danbury, CT 06813-1968
orphan@rarediseases.org
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
Brighton, MA 02135
info@ntsad.org
www.ntsad.org/
Tel: 617.277.4463 800.90.NTSAD (906.8723)
Fax: 617.277.0134
Source: National Institutes of Health; National Institute of Neurological Disorders and Stroke
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This information is provided by the Cleveland Clinic and is not intended to replace the medical advice of your doctor or health care provider. Please consult your health care provider for advice about a specific medical condition. This document was last reviewed on: 5/12/2009...#6053
