Health Encyclopedia

Gaucher disease

Definition

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

Alternative Names

Glucocerebrosidase deficiency; Glucosylceramidase deficiency

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.

It is an autosomal recessive disease. This means that the mother and father must both pass one abnormal copy of the gene to the child in order for the child to develop the disease. A parent who silently carries an abnormal copy of the gene is called a carrier.

The lack of the glucocerebrosidase enzyme causes harmful substances to build up in the liver, spleen, bones, and bone marrow. The substances prevent cells and organs from working properly.

There are three main subtypes of Gaucher disease:

Type 1 disease is most common. It involves bone disease, anemia, an enlarged spleen and thrombocytopenia. Type I affects both children and adults. It is most common in the Ashkenazi Jewish population.
Type 2 disease usually begins in infancy with severe neurologic involvement. This form can lead to rapid, early death.
Type 3 disease may cause liver, spleen, and brain problems. Patients may live into adulthood.

Symptoms

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

Bone pain and fractures
Cognitive impairment
Easy bruising
Enlarged spleen (splenomegaly)
Enlarged liver (hepatomegaly)
Fatigue
Heart valve problems
Lung disease
Seizures
Severe swelling (edema) at birth
Skin changes

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.

The following tests may be performed:

Blood test to look for enzyme activity
Bone marrow aspiration
Biopsy of the spleen
MRI
CT
X-ray of the skeleton
Genetic testing

Treatment

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

Support Groups

For more information contact:

Childrens Gauchers Disease Research Fund: www.childrensgaucher.org
National Gaucher Foundation: www.gaucherdisease.org

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.

Adults with the type 1 form of the disease can expect normal life expectancy with enzyme replacement therapy.

Complications

Seizures
Anemia
Thrombocytopenia
Bone problems

Prevention

Genetic counseling is recommended for prospective parents with a family history of Gaucher disease. Testing can determine if parents carry the gene that could pass on the Gaucher disease. A prenatal test can also tell if the fetus has Gaucher syndrome.

References

Behrman RE. Nelson Textbook of Pediatrics. 17th ed. Philadelphia, Pa: WB Saunders: 2004; 463-464.

Kumar V, Abbas AK, Fausto N. Robbins and Cotran Pathologic Basis of Disease. 7th ed. St. Louis, Mo: WB Saunders; 2005:163-165.

Sidransky E, Lamarca ME, Ginns EI. Therapy for Gaucher disease: Don't stop thinking about tomorrow. Mol Genet Metab. 2007 Feb;90(2):122-5. Epub 2006 Nov 3.

Review Date:2/14/2007
Reviewed By:Leisha M. Andersen, M.D., Private Practice specializing in Pediatrics, Denver, CO. Review provided by VeriMed Healthcare Network.

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