Signs and Symptoms

The signs and symptoms of Gaucher disease are a result of the progressive accumulation of Gaucher cells in the body. Gaucher cells typically accumulate in the spleen, liver, and bone marrow. However, they may also collect in other tissues, including the lymphatic system, lungs, skin, eyes, kidney, heart, and in rare instances, the nervous system.

Symptoms can appear at any age, but usually are first noticed in childhood or adolescence. They include:

easy bleeding and bruising

excessive fatigue

anemia

weak bones fracturing too easily

bone and joint pain

enlargement of the belly through increase in the volume of spleen and liver.

The type and severity of symptoms can vary widely among individuals. Some individuals do not experience any symptoms until they are elderly, while others may develop life-threatening conditions during childhood. Gaucher disease is progressive and, if left untreated, will usually become worse over time.

Signs of Gaucher disease may include abnormal blood tests such as too few red blood cells and/or platelets, or abnormalities on X-ray pictures such as bone deformity.

Click on a link below to learn more about age-related symptoms.

Children
Teenagers
Adults