Treatment and Prognosis of Gaucher’s disease

Type 1 or 3 Gaucher's disease may be treated with enzyme replacement therapy, bone marrow transplantation and specific medication.

Enzyme Replacement therapy: This modality works by replacing the deficient enzyme (glucocerebrosidase) with artificial enzymes. High dose intravenous injections (through vein) are administered at two-week intervals on outpatient basis. Treatment is usually effective in Type 1 and Type 3 (some cases) diseases.

Possible benefits also include reduced enlargement of the liver and spleen, help to resolve blood abnormalities and improve bone density.

Effectiveness in cases that have developed neurological complications are unclear. Allergic or hypersensitivity reactions following therapy occur at times.

Bone marrow transplantation: This technique of replacing the bone marrow (where blood forming cells occur) is reserved for serious cases and is employed less frequently than is enzyme replacement therapy.

Oral medication: A drug called miglustat (Zavesca) has been approved for use in people with Gaucher's disease. It interferes with the production of glucocerebrosides in some people with type 1 disease. Side effects include: Diarrhea, weight loss, abnormal sperm production are side effects of miglustat.

Prognosis:

People with mild cases of Gaucher's disease may have close to normal life expectancies. Children with type 2 disease (the infantile form)usually die in the first year of life. Children with type 3 disease who live into their teens often survive for many more years.