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Illustrated Health Encyclopedia
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Ency. home > Disease > G > Gaucher disease

Gaucher disease    See images

Overview | Symptoms | Treatment | Prevention

Alternative names:

Glucosylceramide storage disease; GSDI

Treatment

In the past the only potential treatment was removal of the spleen (splenectomy). This has given way to injections of a replacement synthetic enzyme (Cerezyme/Ceredase). Gene therapy is an experimental approach.

A novel oral treatment has recently been evaluated. This drug is known as N-butyldeoxynojirimycin (OGT 918). The mechanism of action is by inhibiting the formation of glucocerebroside. This trial improved key clinical features of Gaucher's disease including liver and spleen size and, to a lesser degree, blood counts. The most frequent side effect was diarrhea. This is currently being further evaluated.

Prognosis

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 recombinant enzyme, most patients with the adult-chronic form can look forward to normal or near normal life expectancy.

Complications

  • seizures
  • anemia
  • thrombocytopenia
  • bone infarctions

Call Your Health Care Provider If:

Call your health care provider or a Comprehensive Gaucher Center if you have a family history of Gaucher disease. Screening may be reasonable for individuals of appropriate ethnic groups known to be at a higher risk of the disease.

Ency. home > Disease > G > Gaucher disease

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