Gaucher disease

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

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Gaucher disease

Glucocerebrosidase Deficiency; Glucosylceramidase Deficiency

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

For more informationcontact:

• National Gaucher Foundation: www.gaucherdisease.org
• Chicago Center for Jewish Genetic Disorders: www.jewishgeneticscenter.org
• Gauchers Association: www.gaucher.org.uk

Prognosis depends on the subtype of the disease. The infantile form of Gaucher disease may lead to early death. Most affected children die before the age of 5 years. With the availability of synthetic enzyme, most patients with the adult-chronic form can look forward to normal or near-normal life expectancy.

• seizures
• anemia
• thrombocytopenia
• bone infarctions

Call your health care provider or a Comprehensive Gaucher Center if you have a family history of Gaucher disease.

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