Who does Gaucher disease affect?

Gaucher (pronounced go-SHAY) disease is a rare, lysosomal storage disorder that affects about 1 in 40,000 people. It can affect males and females of all ages. All types of Gaucher disease can be found in people of any ethnicity, though type 1 occurs more frequently among the Ashkenazi Jewish population, with an estimated incidence rate of 1 in 800.^1,2 The Our Heritage, Our Health Jewish Community Patient Brochure can teach you more. 

Symptoms of Gaucher disease can be different for each person and may range from mild to severe. Gaucher disease is a lifelong condition that can get worse over time, and is also often misdiagnosed or undetected. This can cause treatment delays, which can lead to permanent damage to bones and major organs. The earlier Gaucher disease is diagnosed, the sooner it can be managed properly.^1,2

What causes Gaucher disease?

Gaucher disease is an inherited genetic condition that causes a lipid, called glucosylceramide (gloo-ko-sil-sara-mide, also known as GL-1), to build up in various tissues including the liver, spleen, and bone marrow.^1,2

Typically, an enzyme called glucocerebrosidase (pronounced gloo-ko-ser-e-bro-sydaze) breaks down GL-1. People with Gaucher disease may be missing this enzyme or may lack enough of the enzyme to keep up with the amount of GL-1 that accumulates.

As GL-1 builds up in certain cells, people with Gaucher disease may experience signs and symptoms in different systems throughout the body, such as the blood, bones, and organs like the spleen and liver. In particular, patients may experience swelling of the spleen and/or liver, possibly resulting in a protruding abdomen, as well as increased bruising and bleeding.^1,2

Types of Gaucher disease

Gaucher disease has a range of symptoms, and its severity is grouped into three main types. These types differ in which parts of the body are affected, when symptoms begin, and how quickly they change over time.^2,3

Type 1

Type 1 is also known as “non-neuronopathic” Gaucher disease.

• Most common type in the United States
• Does not usually affect the central nervous system (brain and spinal cord)
• Symptoms can start at any age and may range from mild to severe
• Can often limit quality of life and is often associated with considerable morbidity, but is rarely life threatening

Type 3

Type 3 is also known as “chronic neuronopathic” Gaucher disease.

• Less common in the United States, but more common worldwide
• Affects the central nervous system (causes neurologic symptoms)
• Neurologic symptoms usually start during childhood, and can worsen more slowly than type 2
• Many people with type 3 disease can reach adulthood with appropriate disease management

Type 2

Type 2 is also known as “acute neuronopathic” Gaucher disease.

• Rarest of the three types
• Affects the central nervous system (causes neurologic symptoms)
• Neurologic symptoms start during infancy and tend to be severe
• Disease gets worse very quickly and can lead to death before 4 years of age
   

How is Gaucher disease diagnosed?

Because Gaucher disease is rare and symptoms can be very different, patients are often misdiagnosed or get the correct diagnosis late. A doctor may suspect Gaucher disease based on certain signs and symptoms, especially if there is a family history of the disease. To confirm a Gaucher disease diagnosis a blood test is done to check for changes in the GBA1 gene or low levels of the glucocerebrosidase enzyme.^1,2 

How is Gaucher disease managed?

Managing Gaucher disease depends on the disease type and severity. The main goals of treatment are to reduce or relieve symptoms, prevent permanent damage, and improve the patient’s overall health and quality of life.^2,5 Your doctor can discuss what specific treatment options are best for you.