What Is Gaucher disease?

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.

About Gaucher Disease

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 be effectively managed once a diagnosis is made. Treatment options are available, including oral therapy.

5 Important Things To Know About Gaucher Disease

~1 in 850 being affected

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 onset may occur at any age

Gaucher disease is not just a childhood disease; onset may occur at any age, including adulthood.

Don’t ignore Gaucher symptoms

Don’t ignore any symptoms. Disease progression can lead to severe consequences. Some people may be asymptomatic with Gaucher disease type 1, or they may experience mild to severe symptoms which can include: bone pain, bruising easily, nose bleeds, and fatigue.

Testing for Gaucher disease

Testing for Gaucher disease is done with a simple blood test called an enzyme assay.

substrate reduction therapy (SRT) and enzyme replacement therapy (ERT)

There are 2 treatment approaches available to manage Gaucher disease: substrate reduction therapy (SRT)–an oral treatment, and enzyme replacement therapy (ERT)—an infusion.

Symptoms can mimic other diseases, and many people are misdiagnosed or assume they were tested. If you suspect Gaucher disease, talk to your doctor. Gaucher disease can be diagnosed with just a simple blood test.

Understanding the different types of Gaucher disease

There are 3 types of Gaucher disease: types 1, 2, and 3.

More that 90% of gaucher disease patients have type 1

Gaucher disease type 1 can be effectively managed once a diagnosis is made.

Gaucher disease is often misdiagnosed

Gaucher disease type 1 commonly mimics the signs and symptoms of other diseases.

Learn about Gaucher disease symptoms

It’s easy to get tested for Gaucher disease

Early diagnosis and timely treatment of Gaucher disease type 1 is important to prevent certain complications.

Get tested today