Gaucher disease typically affects the body in many ways, as a result of Gaucher cells accumulating in various organs (especially the liver and spleen) and in the bone marrow (leading to many skeletal complications). The disease’s bone-related symptoms can be particularly painful and debilitating, impairing a patient’s mobility. In addition, children and adolescents with Gaucher disease may experience a delay in growth and development.

If you or a loved one has one or more of these signs of symptoms, talk to your doctor about further evaluation.

For more information, visit the Diagnosis and Testing pages.

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Other possible signs and symptoms

Delayed growth and development
Children with untreated Gaucher disease may experience a temporary delay in growth and development compared with their peers. In addition, puberty may begin later than normal.

Loss of appetite
Patients with Gaucher disease may experience a feeling of fullness after eating a small meal. This typically occurs if an enlarged spleen or liver puts pressure on the stomach.