Gaucher disease is a rare disease. It causes the abnormal storage of fatty substances. They build up in the bones, liver, lungs, spleen and sometimes the brain. There are three types of this disease. Each type affects the brain differently:
Type 1—most common, but does not change the brain
Type 2—rare, quickly progressive form that causes severe damage to the brain
Type 3—rare; affects the brain, but damage can vary
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 the right way. As a result, the fat builds up.
Your risk may be higher if you are of Ashkenazi Jewish background. Your risk may also be raised if you have people in your family with this disease.
Symptoms differ from person to person and across the three types of the disease. Here are some common ones:
Lack of energy
In general, the later the age at the start of symptoms, the less likely that they will be severe. People with type 1 may have mild health problems that are treatable. This type does not change the growth of the brain.
Type 2 appears within the first few months of life. Symptoms are mostly neurological, such as severe brain damage, seizures, and jerky muscle movements. Children with this type usually do not live past two 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 happen slowly over time. Children with type 3 can survive to become adults.
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 doesn’t affect the neurological symptoms found with type 2 and type 3. Supportive care is often the only option for these symptoms.
Here are some options:
Enzyme replacement therapy can bring enzymes up to normal levels to prevent fat build up. It is most useful for people with type 1. It may also help people with type 3 control non-neurological symptoms. This medicine can’t pass into the brain, so it is not useful for build up in the brain.
Substrate reduction therapy is a medicine that lowers the amount of glucocerebroside the body makes. This therapy may not be helpful for everyone.
Medicine for supportive care may be pain medicine or medicine to help maintain bones.
An enlarged spleen can lead to other health problems. It may need to be removed with a
Gaucher disease can’t be prevented. If you have Gaucher disease or have a family history of it, you can talk to a genetic counselor. They can help you find out the risk of Gaucher disease in your offspring.
Gaucher disease. National Gaucher Foundation website. Available at: https://www.gaucherdisease.org/about-gaucher-disease/what-is/. Accessed July 3 ,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 July 3, 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 Surveillancehttp://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.
EBSCO Information Services is fully accredited by URAC. URAC is an independent, nonprofit health care accrediting organization dedicated to promoting health care quality through accreditation, certification and commendation.
This content is reviewed regularly and is updated when new and relevant evidence is made available. This information is neither intended nor implied to be a substitute for professional medical advice. Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with questions regarding a medical condition.
To send comments or feedback to our Editorial Team regarding the content please email us at firstname.lastname@example.org. Our Health Library Support team will respond to your email request within 2 business days.