Treatment

While there's no cure for Gaucher disease, a variety of treatments can help control symptoms, prevent irreversible damage and improve quality of life. Some people have such mild symptoms that they don't need treatment.

Your doctor likely will recommend routine monitoring to watch for disease progression and complications. How often you'll need to be monitored will depend on your situation.

Medications

Many people who have Gaucher disease have seen improvements in their symptoms after beginning treatment with:

  • Enzyme replacement therapy. This approach replaces the deficient enzyme with artificial ones. These replacement enzymes are given in an outpatient procedure through a vein (intravenously), typically in high doses at two-week intervals. Occasionally people have an allergic or hypersensitivity reaction to enzyme treatment.
  • Miglustat (Zavesca). This oral medication appears to interfere with the production of fatty substances that build up in people with Gaucher disease. Diarrhea and weight loss are common side effects.
  • Eliglustat (Cerdelga). Approved by the Food and Drug Administration in 2014 for treating the most common form of Gaucher disease, this drug also seems to inhibit the production of fatty substances that build up in people with this this condition.Possible side effects include fatigue, headache, nausea and diarrhea.
  • Osteoporosis drugs. These types of medication can help rebuild bone weakened by Gaucher disease.

Surgical and other procedures

If your symptoms are severe and you're not a candidate for less invasive treatments, your doctor might suggest:

  • Bone marrow transplant. In this procedure, blood-forming cells that have been damaged by Gaucher disease are removed and replaced, which can reverse many of Gaucher signs and symptoms. Because this is a high-risk approach, it's performed less often than is enzyme replacement therapy.
  • Spleen removal. Before enzyme replacement therapy became available, removing the spleen was a common treatment for Gaucher disease. Now this procedure typically is used as a last resort.