Gaucher Disease

Gaucher disease (pronounced “go-shay”) is an inherited lysosomal storage disorder (LSD), a type of disease that causes fatty substances (sphingolipids) to build up in your bone marrow, liver and spleen. The sphingolipids weaken bones and enlarge your organs, so they can’t work as they should. There’s no cure for Gaucher disease, but treatments can relieve symptoms and greatly improve quality of life.

Types of Gaucher disease

There are three types of Gaucher disease (or Gaucher’s disease). All of them cause similar symptoms in your organs and bones. Some forms of the disease also affect your brain and neurologic system.

Gaucher disease type 1

The most common type in the U.S., Gaucher disease type 1 affects your spleen, liver, blood and bones. It doesn’t affect your brain or spinal cord. Gaucher disease type 1 is treatable, but there’s no cure. For some people, symptoms are mild. Other people experience severe bruising, fatigue and pain, especially in their bones and belly (abdomen). Symptoms can appear at any age, from early childhood to late adulthood.

Gaucher disease type 2

A rare form of the disorder, Gaucher disease type 2 appears in babies younger than 6 months old. It causes an enlarged spleen, movement problems and severe brain damage. There’s no treatment for Gaucher disease type 2. Babies with this condition usually pass away within two to three years.

Gaucher disease type 3

Worldwide, Gaucher disease type 3 is the most common form, but it’s rare in the U.S. It appears before age 10 and causes bone and organ abnormalities and neurological (brain) problems. Treatments can help many people with Gaucher disease type 3 live into their 20s or 30s.

How common is Gaucher disease?

Gaucher disease is rare. About 6,000 people in the U.S. have the disorder. About 95% of people with Gaucher disease in the U.S. have type 1.