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Walgreens Specialty Pharmacy > Conditions and therapies > Gaucher disease

Gaucher disease

Gaucher disease is the result of not having enough of an enzyme called glucocerebrosidase in the body. Enzymes are chemicals that work to break down other substances in the body. Glucocerebrosidase breaks down a fatty substance called glucocerebroside.

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

When the disease affects the bone marrow, a person may feel tired and bruise easily, or have bone pain or other bone problems. In addition, Gaucher disease can cause the liver or spleen to become enlarged.

Select any question to learn more about Gaucher disease below:

What treatments are available?
How is this therapy given?
How long will I need treatment?
Where can I find more information?
Healthy Pointers

What treatments are available?

Treatment for many people with Gaucher disease is enzyme replacement therapy, which can help stop the growth of glucocerebroside in the body.

Some people who are unable to tolerate enzyme replacement therapy may receive a different type of treatment known as substrate reduction therapy. This oral treatment is used for people with a mild to moderate form of the most common type of Gaucher disease, called type 1.

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How is this therapy given?

The enzyme is given intravenously (directly into the vein), because it won't work if taken by mouth. It takes about one to two hours to receive the medication. This time can usually be spent sitting or lying down and watching television or reading.

Different people have different results from treatment. It may take a few weeks or a few months before treatment begins to work. Talk with your doctor about what to expect from treatment and how often treatment will be needed.

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How long will I need treatment?

Enzyme replacement therapy may be a lifelong treatment. Stopping therapy could cause glucocerebroside to build up again, and symptoms could return.

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Where can I find more information?

The more informed you are, the better you can manage your health. The following site is considered highly reliable.

National Institute of Neurological Disorders and Stroke
http://www.ninds.nih.gov/disorders/gauchers/gauchers.htm

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Healthy Pointers:

  • Eat a well-balanced diet and get plenty of exercise.
  • Do not miss doses of your medication. If you are planning to travel or move, make sure to arrange to receive your treatment at your new location.
  • Make sure your doctor knows about any other health problems you have and any other medications you take, including over-the-counter medications, vitamins, and supplements.
  • Visit the doctor regularly to keep track of your progress.

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Inclusion of resources on this list does not imply endorsement by Walgreen Co. or any of its subsidiaries or affiliates. These resources should be used for general information and educational purposes only. Information provided by these resources should not replace necessary medical consultations with a qualified health or medical professional.

Information provided here does not constitute professional medical advice. Although it is intended to be accurate, neither Walgreen Co., its subsidiaries or affiliates, nor any other party assumes liability for loss or damage due to reliance on this material. If you have a medical question, consult your medical professional.

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