Welcome to the NORD Physician Guide to Gaucher Disease. The NORD Online Physician Guides are written for physicians by physicians with expertise on specific rare disorders. This guide was written by Roscoe O. Brady, MD, National Institute of Neurological Disorders and Stroke (NINDS), National Institutes of Health (NIH) (see acknowledgements for additional information).
NORD is a nonprofit organization representing all patients and families affected by rare diseases. The information NORD provides to medical professionals is intended to facilitate timely diagnosis and treatment for patients.
Gaucher disease is a lipid storage disease caused by an enzyme deficiency that results in excess glycolipid glucocerebroside throughout the body especially in the spleen, liver and bone marrow, and is characterized by a wide range of severity.
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There are three distinct forms of Gaucher disease classified by the absence (type 1) or presence and extent (type 2 or type 3) of neurological complications.
Gaucher disease should be considered in persons with enlargement of the spleen and liver. Additional major signs include anemia, easy bruising, episodes of bone pain and fractures of the femur and pelvis.
Enzyme replacement therapy (ERT) has proven highly effective for individuals with Gaucher disease type 1.
There is a report on the following related topic in NORD’s online Rare Disease Database for patients, families and the public at: