Gaucher Disease

Gaucher (pronounced "Go-Shay") disease is a genetic disorder caused by deficiency of the enzyme, glucocerebrosidase. This deficiency causes a fatty substance to accumulate in certain body tissues such as the spleen, liver, and bone marrow. There are three types of Gaucher disease, Type I is the most common form. Symptoms usually occur in childhood or early adulthood but can be diagnosed at anytime throughout someone's life and include an enlarged liver and/or spleen, anemia, fatigue, easy bruising, impaired blood clotting (e.g. frequent nose bleeds without trauma and gum bleeding with regular brushing, bruising for no reason), bone pain, and fractures. Treatment is available and involves replacing the deficient enzyme. To find out if you have Gaucher’s disease, your doctor can perform a blood test.