What is Gaucher disease?

Gaucher (pronounced go-shay) disease is an inherited genetic condition that causes fatty deposits to build up in certain organs and bones. It can cause a wide variety of symptoms. Gaucher disease affects less than 10,000 people worldwide.

Gaucher cells

Our bodies contain thousands of active substances called enzymes. In healthy people, the enzyme glucocerebrosidase (pronounced gloo-ko-ser-e-bro-sy-daze) helps the body to break down a certain type of fat molecule (glucocerebroside). People with Gaucher disease do not have enough of this enzyme. As a result, cells fill up with the undigested fat (illustration 1). These cells are referred to as Gaucher cells.

Illustration 1

Disease history

Gaucher disease was first described in 1882 by French physician Philippe Charles Ernest Gaucher after he evaluated the corpse of a 32-year-old woman with an enlarged spleen (one of the disorder’s distinguishing signs).

French physician Philippe Charles Ernest Gaucher

Major signs and symptoms

Gaucher cells typically build up in different parts of the body, primarily the liver, spleen and bone marrow. Accumulation of Gaucher cells may cause spleen and liver enlargement, anemia, and a number of other signs and symptoms. In rare cases, the brain and nervous system are affected. To learn more about how Gaucher disease may affect the body, see the Signs and Symptoms.

The three types of Gaucher disease

Experts have identified three different types of Gaucher disease:

The most common form, Type 1 affects 1 in 40,000 to 60,000 individuals in the general population. Type 1 does not affect the brain or nervous system. Some patients with Type 1 Gaucher disease have no symptoms, while others develop serious symptoms that can be life threatening.

Type 2 Gaucher disease is more rare, affecting fewer than 1 in 100,000. However, people with Type 2 generally have more severe effects than Type 1. Children develop signs and symptoms of Type 2 Gaucher disease within the first year of life, and may suffer major neurological problems as well as other symptoms. Many do not live past age two.

Type 3 is also rare and affects fewer than 1 in 100,000 people. This form may also cause neurological signs and symptoms, but they are less severe than in Type 2 Gaucher disease. Signs and symptoms appear in early to late childhood, and patients with Type 3 Gaucher disease live well into adulthood.

Who gets Gaucher disease?

Gaucher disease is inherited, or caused by genes passed down through an individual’s parents. To learn more about how Gaucher disease runs in families, see Genetics and Gaucher Disease.

Gaucher disease is not gender specific and its signs and symptoms may appear in affected individuals at any age, although Types 2 and 3 are most commonly diagnosed in childhood. Although individuals from any ethnic or racial background may develop Gaucher disease, Type 1 Gaucher disease is most common among Jews of Ashkenazi (Eastern European) descent. Among this group, 1 in 850 people has Gaucher disease.