Gaucher (pronounced go-shay) disease is a rare, inherited, progressive condition that causes a fatty substance
called glucosylceramide (gloo-ko-sil-sara-mide, also called GL-1) to build up in certain organs or bones.
Symptoms of Gaucher disease can begin at any age, and can be mild, moderate, or severe. Gaucher disease is progressive, meaning that symptoms will get worse over time and can also affect major organs in your body, such as your liver, lungs, bones, and spleen. People with Gaucher disease may experience different signs and symptoms, however, regardless of the number or severity of symptoms, timely treatment may prevent certain complications.
Gaucher disease type 1 can occur in all ethnic groups, affecting ~1 in 40,000 individuals in the general population. People of Ashkenazi Jewish Ancestry have a higher incidence of the disease, with approximately ~1 in 850 being affected.
Gaucher disease is not just a childhood disease; onset may occur at any age, including adulthood.
Testing for Gaucher disease is done with a simple blood test called an enzyme assay.
There are 2 treatment approaches available to manage Gaucher disease: substrate reduction therapy (SRT)–an oral treatment, and enzyme replacement therapy (ERT)—an infusion.
There are 3 types of Gaucher disease: types 1, 2, and 3.
Gaucher disease type 1 can be effectively managed once a diagnosis is made.
Your doctor may call it non-neuropathic Gaucher disease, meaning it does not usually involve the brain and spinal cord (the central nervous system). It can begin at any age and symptoms can be mild, moderate, or severe.
Some of the most common symptoms include:
Also known as acute infantile neuronopathic Gaucher disease, type 2 is a more serious form of disease because it affects the central nervous system. This type of Gaucher disease could cause death before someone reaches 2 years of age.
Symptoms of Gaucher disease type 2 include:
Also known as chronic neuronopathic Gaucher disease, type 3 can start in childhood, but usually symptoms are seen at a later age than in type 2. Many people with Gaucher disease type 3 often reach adulthood.
Symptoms vary, and may include:
Gaucher disease type 1 commonly mimics the signs and symptoms of other diseases.Learn about Gaucher disease symptoms