Gaucher's disease

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Gaucher's disease

Question

What is Gaucher's disease?

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Answer

Gaucher's disease — pronounced go-SHAYZ — is a rare, inherited metabolic disorder in which excessive amounts of a fatty substance (lipid) called glucocerebroside accumulate in the spleen, liver, lungs and bone marrow. In some cases, it also affects the brain.

Gaucher's disease is caused by a deficiency of an enzyme called glucocerebrosidase, which breaks down glucocerebroside. This disorder can be fatal.

Gaucher's disease is an autosomal recessive disorder. This means that both parents must carry the gene defect in order to pass the disease to their children. If both parents have the gene defect, each child has a 50 percent chance of developing the disease, a 25 percent chance of not being affected at all, and a 25 percent chance of being a carrier of the gene.

There are three types of Gaucher's disease. Doctors classify them by age of onset and brain involvement. Type 1 is the most common.

Gaucher's disease type Who it affects Signs and symptoms
Type 1 (adult) Typically adults, though symptoms can appear at any age; Ashkenazi Jews are at increased risk
  • Easy bruising due to a low blood platelet count (thrombocytopenia)
  • Fatigue due to anemia
  • Enlarged spleen and liver
  • Bone pain and fractures
  • Lung and kidney impairment, in some cases
Type 2 (infantile) Infants
  • Same as in type 1
  • Liver and spleen enlargement apparent by 3 months of age
  • Severe progressive brain damage, resulting in seizures and abnormal gait (ataxia)
  • Death by age 2
Type 3 (juvenile) Children and adolescents
  • Same as type 1 only signs and symptoms develop gradually
  • Brain involvement is mild and gradual

A doctor may confirm a diagnosis of Gaucher's disease by a white blood cell examination that shows decreased enzyme activity. There's no cure for Gaucher's disease. But treatment may include:

  • Enzyme replacement therapy, which reduces liver and spleen size, improves blood counts and reduces skeletal anomalies
  • Miglustat (Zavesca), an oral medication that inhibits production of glucocerebroside

No treatment is available for the brain damage caused by Gaucher's disease. If you have a family history of Gaucher's disease, you may consider genetic testing.

Last Updated: 06/09/2006
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