Gaucher disease is a rare buildup of fatty substances in the bones, liver, lungs, spleen, and sometimes the brain.
There are three types. Type 1 is the most common. It results in mild health problems that can be treated. Children with type 2 usually do not live past two years of age. Children with type 3 can survive to adulthood.
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Gaucher disease is caused by a faulty gene. The gene lowers the amount of an enzyme that is needed to break down a fat called glucocerebroside. Instead, some of this fat is not broken down in the right way so it builds up.
This problem is more common in people of Ashkenazi Jewish descent. The risk is also higher in people who have other family members with the disease.
Symptoms differ from person to person and across the three types of the disease. Common problems are:
- Swollen belly
- Easy bruising
- Lack of energy
- Bone pain
- Slow growth
- Delayed puberty
- Breathing problems
You will be asked about your child's symptoms and health history. A physical exam will be done. Blood tests will be taken to look for the faulty gene and check enzyme activity.
There is no cure. Type 1 can be managed by replacing the missing enzyme. This does not affect the neurological symptoms found with types 2 and 3. Supportive care is often the only option for type 2 and 3 symptoms.
Medicine may be given to:
- Replace the missing enzyme
- Lower the amount of glucocerebroside the body makes
- Ease pain
- Improve bone strength
A splenectomy may also be done to remove an enlarged spleen.
There are no known guidelines to prevent Gaucher disease.
- About Gaucher. Gauchers Association website. Available at: http://www.gaucher.org.uk/about_gaucher.
- Gaucher disease. EBSCO DynaMed website. Available at: https://www.dynamed.com/condition/gaucher-disease.
- Gaucher disease. National Gaucher Foundation website. Available at: https://www.gaucherdisease.org/about-gaucher-disease/what-is.
- Gaucher disease. National Institute of Neurological Disorders and Stroke website. Available at: https://www.ninds.nih.gov/health-information/disorders/gaucher-disease.
- Kari Kuenn, MD
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