Treatments and drugs

By Mayo Clinic Staff

Some people with type 1 disease have such mild symptoms that they may not need treatment. There's no specific treatment for type 2 Gaucher's disease.

To treat type 1 or 3 Gaucher's disease, your doctor may recommend:

  • Enzyme replacement therapy. This approach replaces the deficient enzyme with artificial enzymes. These replacement enzymes are administered in an outpatient procedure through a vein (intravenously), typically in high doses at two-week intervals. Although results can vary, treatment is frequently effective in people with type 1 Gaucher's disease and, in some cases, type 3. In many people, enzyme replacement therapy can reduce the enlargement of the liver and spleen, help to resolve blood abnormalities and improve bone density. It's unclear whether this therapy is effective for the neurological problems of Gaucher's disease. Occasionally people experience an allergic or hypersensitivity reaction to enzyme treatment.
  • Bone marrow transplantation. This surgical procedure has been used for severe cases of Gaucher's disease. In this technique, blood-forming cells that have been damaged by Gaucher's are removed and replaced, which can reverse many of Gaucher's signs and symptoms. Because this is a high-risk approach, it's performed less often than is enzyme replacement therapy.
  • Medication. The oral medication miglustat (Zavesca) has been approved for use in people with Gaucher's disease. It appears to interfere with the production of glucocerebrosides in some people with type 1 disease. Diarrhea and weight loss are common side effects. This medication may also affect sperm production. Contraception is advised while using miglustat and for three months after stopping the drug.

Pregnancy

Although pregnancy may worsen the symptoms of Gaucher's disease, most women who have the disease can have a successful pregnancy. However, it's not clear if enzyme replacement should be continued during pregnancy.

Prognosis

People with mild cases of Gaucher's disease, particularly those who develop it in adulthood, have close to normal life expectancies. Children whose illness begins during infancy generally don't live beyond 2 years old. However, children with type 3 who live into their teens often survive for many more years.

Jul. 08, 2011