What is Gaucher disease?
An enzyme called beta-glucosidase is necessary for breaking down a specific fatty substance in the body. Lack of this enzyme, caused by a mutation in the GBA gene, causes this fatty substance to accumulate in the bone marrow, spleen, liver and other parts of the body. This can result in anemia, low platelet count, easy bruising and bleeding, bone pain and bone fractures, even with little trauma.

What are the three types of the disease?
Symptoms of Gaucher disease types 1, 2 and 3 are variable and can range from mild to severe. Individuals with very mild symptoms, usually type 1, may not be aware that they are even affected. Although the brain can be affected in some forms of the disease, in type 1, the form most common in the Jewish population, there are generally no neurologic manifestations.

What are the symptoms?
The age of onset for Gaucher disease type 1 is widely variable: some women, for instance, are only diagnosed in pregnancy when hematologic issues are exacerbated. Some form of bone disease occurs in 70% to 100% of individuals with the disorder. This includes acute or chronic bone pain, fractures, joint degeneration and arthritis. Episodes of acute bone pain are called “bone crises,” which are usually confined to a specific area and present fever symptoms and swelling with no evidence of infection. Bone density may also decrease. Other symptoms include fatigue, anemia, low platelet count, easy bruising and bleeding, pulmonary (lung) problems and a swollen abdomen due to an enlarged liver and/or spleen.

Is there treatment available?
Gaucher disease is very effectively treated with infusions of enzyme replacement therapy (ERT). Prolonged treatment, over the course of two to four years, has been shown to reduce the rate of bone loss, improve bone pain and reduce bone crises. An individual on ERT must be monitored carefully to ensure appropriate dosage.

An alternative to ERT is an oral medication that removes the accumulated fatty substance from the body. This is called substrate reduction therapy, and it has been shown to reduce the size of the liver and spleen and increase bone density. As with most treatments, side effects exist. Frequent supervision and management of other symptoms (skeletal, hematologic, pulmonary, hepatic and spleen-related) is also recommended.

What is the life expectancy of someone with Gaucher disease, type 1?
With treatment, individuals have a normal lifespan.

How do I find out if I am a carrier?
Genetic testing can identify approximately 95% of carriers. Visit Screening and Counseling for more information. The Center encourages prospective parents to meet with a genetic counselor and get tested before conception, in order to make the best health care decisions for their families.

How is Gaucher disease diagnosed?
A simple blood test can measure levels of beta-glucosidase in the blood or genetic testing can identify mutations in the Gaucher disease-causing gene.

Is prenatal diagnosis available?
DNA testing is available for couples with an affected child or to couples found to be at risk by carrier testing.

How can I find out more about Gaucher disease?

Gaucher Chat
Whether you live with Gaucher disease or you just want to know more about it, Gaucher Chat helps you find someone to lend an ear, share stories or just talk. This online pen pal program, founded and organized by a college student, puts you in touch with others in the Gaucher community worldwide.

National Gaucher Foundation
The NGF offers a wide range of programs and resources for the benefit of the Gaucher community. The NGF funds research, offers financial assistance, promotes education and awareness, supports legislative issues and provides outreach programs vital to the Gaucher community.

Gauchers Association UK 
The Gauchers Association has been active in promoting awareness and research, providing general and specific information, and perhaps most importantly, establishing a support network for those affected by Gaucher disease.

International Collaborative Gaucher Group Gaucher Registry 
The ICGG works in developing recommendations for monitoring Gaucher disease patients, reviewing Gaucher Registry Clinical Summary Reports and publications on Gaucher disease, implementing sub-registries to address specific unanswered clinical questions related to Gaucher disease, and consulting with other physicians and health care providers on the management of Gaucher patients.

Comprehensive Gaucher Treatment Center (California) and Mount Sinai Comprehensive Gaucher Disease Treatment Center (New York)
The Gaucher Treatment Center works to treat individuals with Gaucher disease in the most effective, innovative ways possible. The site also provides a wealth of information for those affected by the disease.

Researching Disease: Dr. Roscoe Brady & Gaucher Disease 
Researching Disease is dedicated to finding treatments and cures for Gaucher disease. The site highlights many of Dr. Brady’s methods of research.