Gaucher Disease
What Is It?
Gaucher Disease (GD) is an inherited condition that can damage many different parts of the body. Damage occurs when a type of fat — glucocerebroside — builds up in certain organs in the body. Normally, we have an enzyme—glucocerebrosidase — that eliminates this bad fat. People with GD do not make enough of this enzyme. GD typically causes a large liver and spleen, anemia, low platelet count, lung disease, and sometimes brain disease.
There are three basic types of GD. Type 1 (GD1) causes nearly all of the symptoms listed above, except for brain disease. GD2 and GD3 cause all the listed symptoms, including effects on the brain. GD2 is the most severe, with symptoms beginning before age 2. In GD3, the symptoms may begin before age 2, but are more mild and slower to worsen. More recently, experts on Gaucher disease have realized that some patients do not exactly fit into these categories. Symptoms of patients with GD2 and GD3 can vary.
To continue reading this article, you must log in.
Subscribe to Harvard Health Online for immediate access to health news and information from Harvard Medical School.
- Research health conditions
- Check your symptoms
- Prepare for a doctor's visit or test
- Find the best treatments and procedures for you
- Explore options for better nutrition and exercise
I'd like to receive access to Harvard Health Online for only $4.99 a month.
Sign Me UpAlready a member? Login ».
Disclaimer:
As a service to our readers, Harvard Health Publishing provides access to our library of archived content. Please note the date of last review or update on all articles.
No content on this site, regardless of date, should ever be used as a substitute for direct medical advice from your doctor or other qualified clinician.