Gaucher disease is a rare buildup of fatty substances in the bones, liver, lungs, spleen, and sometimes the brain.
There are 3 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.
Gaucher disease is caused by a faulty gene. The gene limits the amount of a certain enzyme. The enzyme normally breaks down a fat called glucocerebroside. The faulty gene lowers this enzyme and some of this fat is not broken down in the right way. This causes it to build up.
This problem is more common in people of Ashkenazi Jewish descent. The risk may also be raised in people who have other family members with the disease.
Symptoms differ from person to person and across the 3 types of the disease. Common problems are:
Lack of energy
You will be asked about your child's symptoms and health history. A physical exam will be done.
Blood tests will be done.
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.
Here are some treatments:
Replace the missing enzyme
Lower the amount of glucocerebroside the body makes
About Gaucher. Gauchers Association website. Available at: http://www.gaucher.org.uk/about_gaucher. Accessed November 5, 2020.
Gaucher disease. EBSCO DynaMed website. Available at: https://www.dynamed.com/condition/gaucher-disease. Accessed November 5, 2020.
Gaucher disease. National Gaucher Foundation website. Available at: https://www.gaucherdisease.org/about-gaucher-disease/what-is. Accessed November 5, 2020.
Gaucher disease information page. National Institute of Neurological Disorders and Stroke website. Available at: https://www.ninds.nih.gov/Disorders/All-Disorders/Gaucher-Disease-Information-Page. Accessed November 5, 2020.
Pastores GM, Hughes DA. Gaucher Disease. GeneReviews 2015 Feb 26.
Last reviewed September 2020 by EBSCO Medical Review Board
Kari Kassir, MD
Last Updated: 5/11/2021
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