How to Treat Gaucher's Disease

Named for the French doctor who identified the disorder in the 19th century, Gaucher's disease is one of the most common disorders of lipid storage. Unfortunately, Gaucher's disease typically has considerable adverse effects on patients' quality of life, and treatment is difficult and expensive.

Instructions

Difficulty: Challenging

Get Treatment for Gaucher's Disease

1. Know that bi-weekly intravenous enzyme replacement treatments are effective in reducing the enlarged liver and spleen that are common complications of Gaucher's disease. It is absolutely necessary to treat organ enlargements, as these can cause additional serious complications in and of themselves.
2. Consider splenectomy surgery to remove the spleen if it does not respond to treatments attempting to reduce its enlarged size. The spleen is a non-vital organ and can cause the patient constant discomfort if it remains over-large.
3. Treat the disease's effects on motor skills through joint replacement surgery. Often, people suffering from Gaucher's disease will display an inability to perform routine bodily and muscle movements. Joint replacement surgery can improve the patient's mobility and quality of life.
4. Use drug treatments to combat side effects of the disease. Gaucher's disease patients are more prone to infection, so antibiotics can be prescribed. Seizures can be treated with anti-epileptic drugs. Treat the bone lesions caused by the disease with bisphosphonates.
5. Have a liver transplant only if the liver does not respond to attempts to reduce its size and this itself becomes a life-threatening condition.
6. Know that a bone marrow transplant is considered the only curative treatment for the non-neurological effects of the disease. However, it carries considerable risk and should only be considered as an absolute last resort.
7. Anticipate astronomical costs for treatment of Gaucher's disease. An annual treatment regimen aimed at controlling the disease and improving the patient's quality of life costs several hundred thousand dollars.

Tips & Warnings

• There are three sub-types of Gaucher's disease. Type I is the most common and mildest, generally resulting in an enlarged spleen and kidney, skeletal weakness and easy bruising. It usually onsets during childhood, but can occur in adults. Type II affects children roughly six months of age. It is severe and usually results in the death of the patient by age two. Type III is also more severe than Type I, but does not manifest until childhood or adulthood, resulting in significantly decreased life expectancy.

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