Gaucher (pronounced “go-SHAY”) disease leads to deficiency of an enzyme that breaks down a certain fatty substance (lipid) in the body. The deficiency in turn leads to a build-up of cells swollen with the fatty substance. These swollen cells crowd out normal cells in some organs and tissues.
At Seattle Cancer Care Alliance (SCCA), our team of experts provides comprehensive diagnostic and medical care along with ongoing monitoring and support for people with Gaucher disease.
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What is Gaucher disease?
Gaucher disease is an inherited genetic disorder caused by a mutation in the GBA gene. The abnormal gene reduces or stops the effect of an enzyme called beta-glucocerebrosidase. Normally this enzyme breaks down a fatty substance (glucosylceramide) and converts it to two components (glucose and ceramide) that we can easily process. Without enough of the enzyme, high levels of the fatty substance build up in cells of the spleen and liver, which become enlarged.
Both parents must carry the abnormal gene in order to pass Gaucher disease on to their child.
Symptoms and diagnosis of Gaucher disease
There are three types of Gaucher disease. The most common, known as type 1 Gaucher disease, can cause an enlarged spleen and liver, anemia, easy bruising, impaired blood clotting, lung disease, bone pain and fractures. Types 2 and 3 cause the same symptoms as type 1, but they also affect the central nervous system (brain and spinal cord) and can affect eye movement and cause seizures and brain damage.
To diagnose Gaucher disease, doctors perform a blood test to assess enzyme activity. After the initial diagnosis, many people have genetic testing to identify specific mutations in the GBA gene. This helps doctors create an effective treatment plan, and it helps families build a history of genetic traits.
Gaucher disease treatment
Treatment of Gaucher disease focuses on replacing the deficient enzyme or reducing the formation of the fatty substance that builds up. In most cases, people with Gaucher disease receive long-term enzyme replacement therapy by intravenous infusion every two weeks. In addition, some people respond well to medicines taken by mouth (miglustat [Zavesca] and eliglustat [Cerdelga]) that reduce the formation of glucosylceramide.
For more information about Gaucher disease, visit the National Gaucher Foundation website.