What is Gaucher disease?
Gaucher disease type 1 is a rare, progressive, genetic disease that causes many
different symptoms; however, it can be appropriately managed.
Nate, USA, patient with Gaucher disease type 1 treated with Cerdelga
Gaucher (pronounced go-shay) disease is a rare, progressive, inherited, genetic condition that causes a fatty substance, called glucosylceramide (gloo-ko-sil-sara-mide, also called GL-1) to build up in certain organs or bones.
As GL-1 builds up, people with Gaucher disease type 1 may experience excessive bruising and bleeding, and protruding abdomen caused by swelling of the liver and/or spleen.
There are 3 types of Gaucher disease. Gaucher disease type 1 can be effectively managed once a diagnosis is made.
The buildup of GL-1 affects different systems throughout your body—primarily blood and organs like the liver, spleen, and bones.
Patients may experience:
It is the accumulation of GL-1 that causes the signs and symptoms of the disease. However, some patients may not show any symptoms at all despite their disease progressing.