Gaucher disease is a rare disease. It causes the abnormal storage of fatty substances. These fatty substances build up in the bones, liver, lungs, spleen and occasionally the brain. There are three types of Gaucher disease based on how the brain is affected:
Gaucher disease is a genetic disease. A faulty gene limits the amount of an enzyme called glucocerebrosidase. The enzyme normally breaks down a fat called glucocerebroside. The faulty gene decreases this enzyme and some of this fat is not broken down properly. As a result, the fat builds up in the spleen, liver, lungs, bones, and brain.
A family history of Gaucher is the only known factor that increases the chance of Gaucher.
Symptoms vary from person to person and across the three types of Gaucher disease. Common symptoms across all types include:
Neurological symptoms are only present in types 2 and 3 and may include:
In general, the later the age at the start of symptoms, the less likely that symptoms will be severe. People with type 1 Gaucher may have very mild symptoms and is treatable. This type does not affect the growth of the brain.
Type 2 appear within the first few months of life and may also be called acute infantile neuronopathic Gaucher disease. Symptoms are generally all neurological including severe brain damage, seizures, and jerky muscle movements. It is usually fatal by 2 years of age.
Type 3 tends to appear later in childhood. There are neurological symptoms but they are often not as severe as type 2. Symptoms also develop gradually over time. Children with type 3 can survive into adulthood.
You will be asked about your child's symptoms and medical history. A physical exam will be done.
Your child's bodily fluids and tissue may be tested. Blood tests may be used to:
Genetic testing may be needed if changes in enzyme levels are unclear.
There is no cure for Gaucher disease. Type 1 can be managed by replacing the missing enzyme. However, this treatment does not affect neurological symptoms found with type 2 and type 3. Supportive care is often only option for severe neurologic symptoms.
Treatment options include:
Enzyme replacement therapy is delivered through infusions given at a care center. This infusion brings enzymes up to normal levels to prevent fat build up. This may reduce abnormalities in the bone, liver, and spleen. It can also improve or prevent anemia and bleeding problems. It is most effective for people with type 1 Gaucher and may help people with type 3 control non-neurological symptoms. This medication can not pass into the brain so ti is not effective for build up in the brain.
Substrate reduction therapy is a medication that lowers the amount of glucocerebroside (part of fat) the body makes. This therapy is not appropriate for everyone.
Medication for supportive care may include pain medication or medication to help maintain bones.
An enlarged spleen can lead to other health problems and may need to be removed. A splenectomy is the surgical removal of the spleen.
Joint replacements may be needed if bone damage has led to severe mobility limitations.
National Gaucher Foundation
The National Gaucher Foundation of Canada
About Gaucher. Gauchers Association website. Available at: http://www.gaucher.org.uk/about_gaucher. Accessed June 6, 2016.
Gaucher disease. EBSCO DynaMed Plus website. Available at: http://www.dynamed.com/topics/dmp~AN~T114844/Gaucher-disease. Updated April 15, 2015. Accessed June 6, 2016.
Gaucher disease. National Gaucher Foundation website. Available at: https://www.gaucherdisease.org/about-gaucher-disease/what-is/. Accessed January 9, 2018.
Gaucher disease. National Institute of Neurological Disorders and Stroke website. Available at: https://www.ninds.nih.gov/Disorders/All-Disorders/Gaucher-Disease-Information-Page. Accessed January 9, 2018.
Martins AM, Valadares ER, Porta G, et al. Recommendations on the diagnosis, treatment, and monitoring of Gaucher disease. J Pediatrics. 2009;155(4 Suppl):S10-S18.
3/5/2010 DynaMed Plus Systematic Literature Surveillance http://www.dynamed.com/topics/dmp~AN~T114844/Gaucher-diseasehttp://www.dynamed.com/topics/dmp~AN~T114844/Gaucher-disease: FDA approves therapy to treat Gaucher disease. US Food and Drug Administration website. Available at: http://www.fda.gov/NewsEvents/Newsroom/PressAnnouncements/ucm202288.htm. Accessed June 6, 2016.
Last reviewed June 2017 by Kari Kassir, MD
Please be aware that this information is provided to supplement the care provided by your physician. It is neither intended nor implied to be a substitute for professional medical advice. CALL YOUR HEALTHCARE PROVIDER IMMEDIATELY IF YOU THINK YOU MAY HAVE A MEDICAL EMERGENCY. Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with any questions you may have regarding a medical condition.