• Overview
• Inheritance
• Symptoms
  • The Liver and Spleen
  • The Blood
  • The Bones
• Testing
• Treatment
• Resources

Treatment

The treatment of Gaucher disease involves replacing the missing or lacking glucocerebrosidase enzyme with a similar chemical called Cerezyme®, which can enter the macrophage cells and break down glucocerebroside. Studies have shown that Cerezyme® treatment is safe and effective in controlling and reversing many of the symptoms of Gaucher disease. The first observed response is a rise in blood cell counts within a few months of starting the therapy. A decrease in spleen and liver size is often seen within six months to one year. Improvements in the bones may take several years of therapy; the extent of bone improvement in adults on Cerezyme® is still being studied.

Cerezyme® is given by intravenous infusion every other week and is expected to be done for a person's entire life, although the dose will change over time. Cerezyme® can be taken even if a person is also taking other medications. No major side effects have been observed in patients who have been treated with Cerezyme®. Patients may experience minor discomfort, such as pain or bruising at the infusion site. Rare instances of allergic reactions have been reported but do not appear to affect the effectiveness of the treatment.

About 15% of people who receive Cerezyme® treatment develop antibodies (a chemical produced by the body to defend it from foreign substances) to the drug. The presence of antibodies is associated with a higher risk of an allergic reaction to Cerezyme®, and all patients who receive treatment are periodically tested to see if these antibodies are present. People who are found to have the antibodies are sometimes given other medications to lessen the risk of an allergic reaction. However, even people with antibodies continue to receive Cerezyme® treatment.