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
- 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.
Genetics and Gaucher
Genetic counselors, health professionals who are trained to help families understand genetic disorders such as Gaucher disease, help determine if one is a carrier of the “Gaucher gene” and can provide valuable information and support for family planning. Learn more in Genetics and Gaucher »
For more than two decades, 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 »