Gaucher disease

Alternative Names

Glucocerebrosidase deficiency; Glucosylceramidase deficiency

Definition of Gaucher disease

Gaucher disease is a rare genetic disorder in which a person lacks an enzyme called glucocerebrosidase.

Causes, incidence, and risk factors

Gaucher disease affects an estimated 1 in 50,000 to 1 in 100,000 people in the general population. Persons of Eastern and Central European (Ashkenazi) Jewish heritage are at highest risk for the disease.

Symptoms

Symptoms vary depending on the type of disease, but may include:

Signs and tests

The doctor will perform a physical exam. The patient may have signs of liver and spleen swelling, bone changes, lung disease, eye movement problems, heart problems, or hearing loss.

Treatment

Enzyme replacement therapy is available. A bone marrow transplant may be needed in severe cases.

Expectations (prognosis)

How well a person does depends on the subtype of the disease. The infantile form of Gaucher disease may lead to early death. Most affected children die before age 5.

Review

Neil K. Kaneshiro, MD, MHA, Clinical Assistant Professor of Pediatrics, University of Washington School of Medicine. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc. – 11/12/2010

Bone marrow aspiration
Gaucher cell, photomicrograph
Gaucher cell, photomicrograph #2
Hepatosplenomegaly

ADAM Medical Encyclopedia

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