About Gaucher

Gaucher disease is a chronic, progressive, inherited genetic disorder. People with Gaucher disease lack sufficient levels of a particular enzyme. As a result of this enzyme deficiency, a fatty material, or lipid, accumulates in the body. Lipid accumulation in organs and bones can cause mild to severe symptoms that can appear at any time throughout life, from infancy to adulthood.

It is estimated that approximately 1 in 40,000 to 60,000 people in the general population have Gaucher disease, or about 10,000 people worldwide. Among Jews of Ashkenazi (Eastern European) descent, the incidence is higher: up to 1 in 450 people. The higher frequency of Gaucher disease among this population has led to the misconception that Gaucher disease is a "Jewish genetic disease,” but in fact, individuals of any ethnic or racial background may be affected.

Gaucher disease is the most common condition in a family of diseases known as lysosomal storage disorders. The enzyme that is not working well in Gaucher disease is called glucocerebrosidase (pronounced gloo-ko-ser-e-bro-si-dase). This enzyme helps the body break down glucocerebroside (gloo-ko-ser-e-bro-side), a fatty substance stored inside the lysosome, or tiny sac-like structure, of certain cells. With insufficient enzyme activity, glucocerebroside accumulates inside the lysosome and causes the cell to become bloated. Cells that have accumulated a lot of glucocerebroside are called Gaucher cells and have a typical look when viewed under a microscope.

Normal Bone Marrow cell

Gaucher Bone Marrow cell

 

Normal Bone Marrow cell

Gaucher Bone Marrow cell

Clinical symptoms of Gaucher disease occur when lipid-engorged Gaucher cells can not function as normal cells.

Click on the animation below to see a simplified illustration of how Gaucher disease affects the lysosomes of cells.

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Gaucher Cells

Gaucher cells accumulate and displace healthy normal cells in bone marrow and organs such as the liver and spleen. This accumulation causes a host of signs, including skeletal deterioration, anemia, and organ dysfunction.

Gaucher Registry

For more than a decade, the Gaucher Registry has been a global resource to the medical and patient communities, helping to improve outcomes in patients with Gaucher disease. Learn more about participating in the Gaucher Registry »