Gaucher Disease Overview

Gaucher disease happens when a person does not have enough of an enzyme called glucocerebrosidase in their body. Enzymes are chemicals which work to break down other substances in the body. Glucocerebrosidase breaks down a fatty substance called glucocerebroside.

When there is not enough glucocerebrosidase to break it down, glucocerebroside starts to build up. It can build up in cells and organs and keep them from working properly. The organs that are hurt the most are the spleen, liver, lungs, bone marrow, and sometimes the brain.

When the disease hurts your organs, you may feel tired and bruise easily, or have bone pain or other bone problems. In addition, Gaucher disease can cause your liver or spleen to become enlarged.

Living with Gaucher Disease

Treatment for Gaucher disease is enzyme replacement therapy. This means that you are given the enzyme that your body does not have enough of. The enzyme can then stop the build-up of glucocerebroside in your organs.

The enzyme is given to you intravenously (in your vein), because it won't work if taken by mouth. It takes about 1-2 hours to give the medicine. You can usually spend this time sitting or lying down and watching television or reading. Your doctor will decide how often you will need to receive the medicine.

Different people have different results from treatment. It may take a few weeks or a few months to work for you. Talk with your doctor about what you can expect and when you will feel better.

Enzyme replacement therapy may be needed for your lifetime. If you were to stop therapy, glucocerebroside could once again build up in your cells and your symptoms could return.

Knowing about your medicine will help you get good results. To learn more about Gaucher disease, please visit:
http://www.ninds.nih.gov/disorders/gauchers/gauchers_pr.htm

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