Gaucher (pronounced go-shay) disease is a rare, progressive, inherited condition that
causes a fatty substance, called glucosylceramide (gloo-ko-sil-saramide, also called
GL-1), to build up in certain areas of the body, including the spleen, liver, and bone.
Symptoms can mimic other diseases. If you suspect Gaucher disease, get tested.
Many people are
misdiagnosed, or they assume they were already tested. It is important to talk to your doctor if you are experiencing signs and symptoms; it’s just a simple blood test.
The earlier you are tested for Gaucher disease, the sooner you can be diagnosed and treated.
Gaucher disease type 1 can be effectively managed once a diagnosis is
made. Treatment options are available, including oral therapy.
