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Gaucher’s Disease – Treatment and Prevention of Gaucher’s Disease

Gaucher’s disease is a rare genetic disorder in which the affected person lacks an enzyme called glucocerebrosidase. The lack of this enzyme causes accumulation of fatty substances called glucocerebrosides in the bone marrow, bones, liver and spleen, hence resulting in improper functioning of these organs. There are three types of gaucher’s disease depending on the severity and organ involved. The treatment and prevention of gaucher’s disease are discussed below.

Gaucher’s Disease Treatment
The treatment for gaucher’s disease include medications, bone marrow transplantation and enzyme replacement therapy. Type 1 disease may not need any treatment as it is a milder form. Doctor may recommend any of these three treatments for type 1 or 3 gaucher’s diseases. Type 2 disease has no specific treatment.

Medication – Doctors may prescribe oral medications to treat the disease. But medications are not always effective as they cause side effects such as weight loss, diarrhea and also affects sperm production.

Bone marrow transplantation – This is a surgical procedure. In this method, the damaged blood-forming cells are removed and replaced. This method reverses many symptoms of the disease but involves a high risk.

Enzyme replacement theory – In this method, the enzyme that is deficient is replaced by synthetic enzyme. Enzymes are administered through vein. This therapy reduces the enlargement of spleen and liver and resolves skeletal and blood abnormalities. The treatment is effective for type 1 and 3 gaucher’s disease. The main drawback of this therapy is that any severe brain damage cannot be reversed.

Some other treatments available for Gaucher’s disease are:
Symptomatic treatment for this inlcude,

  • Blood transfusion to reduce anemia
  • Enlarged spleen removal
  • Joint replacement

Prevention of Gaucher’s Disease

  • Genetic counselling is recommended for parents with a family history of gaucher’s disease. This helps to take the necessary steps to prevent the disease to their offspring
  • Prenatal diagnosis is also recommended to know that the fetus has gaucher’s disease

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