information about the condition
Type 1 Gaucher (go-SHAY) is a rare, inherited disorder caused by the deficiency, absence, or incomplete functioning of an enzyme called glucocerebrosidase (GLOO-ko-SER-e-bro-sy-daze). Over time, this can result in the build-up of a fatty substance in cells. These cells enlarge and accumulate in the organs (particularly the spleen and liver) and tissues.
Even though all patients are different and will experience type 1 Gaucher differently, there are several common signs and symptoms that occur most frequently in patients. They are*:
- Low red blood cell count
- Enlarged spleen and/or liver†
- Low platelet count
Tricky to diagnose
It can sometimes take doctors a while to arrive at a type 1 Gaucher diagnosis. That’s because it often resembles other conditions. This is why a full evaluation should be completed by your doctor.
“Type 1 Gaucher wasn't my initial diagnosis. I saw five or six different doctors before I got a diagnosis of type 1 Gaucher.”
living with type 1 Gaucher