What is Gaucher's disease?


Gaucher disease is a genetic disorder. In people with Gaucher disease, the enzyme glucocerebrosidase is insufficiently active. Enzymes are substances that help the body process substances in cells. Due to the inadequate action of this enzyme, a fatty substance called glucocerebroside (or glucosylceramide) accumulates in the body. The accumulation in organs and bones can lead to symptoms that can vary from mild to severe and that can manifest at any time in children or in adults.


The French doctor Philippe Charles Ernest Gaucher

Why is this condition called "Gaucher's disease"?

Gaucher disease is named after the French physician Philippe Charles Ernest Gaucher, who first described the disease in 1882 in a patient with enlarged liver and spleen. In 1924, a German doctor succeeded in isolating a fatty substance from the spleen of persons who suffered from Gaucher disease. Ten years later, another French physician identified this substance as glucocerebroside, a component found in the wall of red and white blood cells. In 1965, dr. Roscoe O. Brady and his colleagues at the National Institutes of Health (US) determine that the accumulation of glucocerebroside is due to the lack of the enzyme glucocerebrosidase. The research of Dr. Brady formed the basis for the development of a treatment that is specifically aimed at tackling the lack of the enzyme. This treatment is called enzyme replacement therapy and reduces most non-neurological symptoms of Gaucher disease.

Comparison between a photograph of a Gaucher cell (top) and a photograph of a normal cell (below)

Gaucher cells

The human body contains cells called macrophages. These break down cell fragments for reuse. The recycling process takes place in cell compartments called lysosomes. The enzyme glucocerebrosidase is found in the lysosomes and is responsible for the splitting of glucocerebroside into a sugar (glucose) and a fat (ceramide). In people suffering from Gaucher disease, this enzyme is insufficiently present and cannot break down enough glucocerebroside. The glucocerebroside remains stored in the lysosomes, making the macrophages grow larger and no longer function normally. Enlarged macrophages containing the excess glucocerebroside are called Gaucher cells.