About Gaucher Disease

What is Gaucher disease?

Gaucher (pronounced go-shay) disease is an inherited genetic condition that causes fatty deposits to build up in organs and bones. It can cause a wide variety of symptoms. Gaucher disease affects roughly 30,000 people worldwide.

How does Gaucher disease work?

Our bodies contain thousands of active substances, called enzymes. In healthy people, the enzyme glucocerebrosidase (pronounced gloo-ko-ser-e-bro-si-das) 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 - these are called Gaucher cells.

Gaucher cells build up in different parts of the body, primarily the liver, spleen and bone marrow. They may also collect in other areas of the body. In the rarest cases, the brain and nervous system are affected.

The three types of Gaucher disease

Experts have identified three different types of Gaucher disease:

Type 1 (non-neuronopathic)

The most common form (affecting 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 (acute neuronopathic)

This form of Gaucher disease is more rare (affecting fewer than 1 in 100,000) yet much more severe. Children develop Type 2 Gaucher disease within the first year of life, with major neurological problems (as well as other symptoms). Many do not live past age two.

Type 3 (chronic neuronopathic)

Also very rare (also affects fewer than 1 in 100,000) this form causes neurological symptoms, but they are much less severe than in Type 2. Symptoms appear in early to late childhood, and many patients live well into adulthood.

Who gets Gaucher disease?

Gaucher disease is inherited, meaning that is caused by genes passed on by an individual's parents.

Gaucher disease is not gender specific and its signs and symptoms can appear in affected individuals at any age, although Types 2 and 3 are most commonly diagnosed at a young age. 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 450 people have Gaucher disease.

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