Gaucher disease is a rare genetic disorder in which a person lacks an enzyme called glucocerebrosidase.
Glucocerebrosidase deficiency; Glucosylceramidase deficiency
Gaucher disease affects an estimated 1 in 50,000 to 1 in 100,000 people in the general population. People of Eastern and Central European (Ashkenazi) Jewish heritage are more likely to get this Gaucher disease.
It is an autosomal recessive disease. This means that the mother and father must both pass 1 abnormal copy of the disease gene to their child in order for the child to develop the disease. A parent who carries an abnormal copy of the gene but doesn't have the disease is called a silent carrier.
The lack of the glucocerebrosidase enzyme causes harmful substances to build up in the liver, spleen, bones, and bone marrow. These substances prevent cells and organs from working properly.
There are 3 main subtypes of Gaucher disease:
- Type 1 disease is most common. It involves bone disease, anemia, an enlarged spleen and low platelets (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. People with this type may live into adulthood.
Symptoms vary, but may include:
- Bone pain and fractures
- Cognitive impairment
- Easy bruising
- Enlarged spleen
- Enlarged liver
- Heart valve problems
- Lung disease
- Severe swelling at birth
- Skin changes
Exams and Tests
The health care provider will examine you. You may have signs of swelling in the liver and spleen, bone changes, lung disease, eye movement problems, heart problems, or hearing loss.
The following tests may be done:
Enzyme replacement therapy is available. A bone marrow transplant may be needed in severe cases.
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How well a person does depends on their subtype of the disease. The infantile form of Gaucher disease (Type 2) may lead to early death. Most affected children die before age 5.
Adults with the type 1 form of Gaucher disease can expect normal life expectancy with enzyme replacement therapy.
- Bone problems
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 a baby in the womb has Gaucher syndrome.
McGovern MM. Defects in metabolism of lipids. In: Kliegman RM, Stanton BF, St. Geme J, Schor N, Behrman RE, eds. Nelson Textbook of Pediatrics. 19th ed. Philadelphia, PA: Elsevier Saunders; 2011:chap 80.