Understanding Gaucher disease

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.

MORE THAN 90% OF GAUCHER DISEASE PATIENTS HAVE TYPE 1

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:

A deficiency in red blood cells (called anemia), which may cause fatigue

Reduced blood clotting cells (platelets), which makes it harder for your blood to clot and may cause bruising or bleeding

Enlarged liver and spleen, causing a distended or enlarged abdomen

Bone problems such as delayed growth (in children), bone weakness, bone pain, bone erosion, and the possibility of the eventual collapse of the bone itself

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.