Gaucher’s Disease – Prevention & Treatment
Prevention
Genetic counseling is the only known option that will prevent Gaucher’s disease. This will determine whether a parent is a carrier of the gene and could pass it to an offspring. Likewise, prenatal tests are able to determine whether a fetus has Gaucher’s disease.
Treatment
In some cases of Type 1 Gaucher’s disease, the symptoms are so mild that treatment is not necessary.
In the second type, however, there has been no known cure or treatment yet. Most children afflicted with this disease do not live beyond 2 years of age.
For most cases of type 1 and type 3, the following treatment options are recommended:
- Enzyme therapy – in this option, the deficient enzyme will be replaced with their synthetic counterparts in order to normalize the metabolism of the fatty substance glucocerebrosidase. It is normally given intravenously through a vein in the arm in very high doses bi-monthly. The positive results usually include reduction of the enlargement of the spleen and liver, normalization of the levels of blood cells, and correction skeletal abnormalities.
- Bone marrow transplant – it is indicated for the severe cases of Gaucher’s disease. The blood forming cells that have been damaged are removed and replaced in the bone marrow in the hopes of reversing the symptoms of the disease. This involves a very high risk because rejection of donor cells can happen and may put the life of the patient in danger.
- Medications – Miglustat (Zavesca) is often prescribed. This oral medication interferes with the production of the fatty substance glucoberosides. The most common side effects are weight loss and diarrhea. It may also affect sperm production therefore; contraception is advised during and up to three months after therapy.