Gaucher disease is an inherited condition in which fatty deposits build up in certain organs and bones. People with Gaucher disease don’t have enough of the enzyme glucocerebrosidase, which helps the body to break down a certain type of fat molecule. As a result, cells fill up with undigested fat. Such cells are known as Gaucher cells.
The course of the disease varies. The most common symptoms are enlargement of the liver and spleen, anemia, reduced platelets (hence, bruising and long clotting times), bone pain, bone infarctions that can lead to damage to the shoulder or hip joints, and osteoporosis. The weakening of the bones can result in spontaneous fractures.