- Gaucher disease facts
- What is Gaucher disease?
- What are the symptoms of Gaucher disease?
- How is Gaucher disease inherited?
- How common is Gaucher disease?
- What are the types of Gaucher disease?
- What causes Gaucher disease?
- Which specialties of doctors treat Gaucher disease?
- Is there a test to diagnose Gaucher disease?
- What is the treatment for Gaucher disease?
- What is the prognosis, or life-expectancy, for someone with Gaucher disease?
- Should I talk to my family about Gaucher disease?
- What help is available for patients and their families living with Gaucher disease?
- What other names are used to refer to Gaucher disease?
What is Gaucher disease?
Gaucher disease (sometimes called Gaucher's disease) is an inherited condition that results in the abnormal accumulation of fatty substances known as glycolipids in different body tissues due to a deficiency of an enzyme known as glucocerebrosidase. There are several different types of the condition, and the signs and symptoms that arise due to the sphingolipid accumulation vary widely. Gaucher disease is due to a genetic defect in a gene known as GBA1. Gaucher disease belongs to a class of diseases called lysosomal storage diseases, named after a type of cell that is affected by the buildup of glycolipids.
What are the symptoms of Gaucher disease?
The main signs and symptoms of Gaucher disease are:
- Anemia (low red blood cell count)
- Low platelet count, that can lead to easy bruising
- Enlarged spleen and liver (hepatosplenomegaly)
- Easy bleeding that is difficult to stop
- Bone pain, bone crisis (severe bone pain often accompanied by fever), and the chance of easily broken bones
People with type 1 Gaucher disease usually first notice painless enlargement of the spleen, anemia, or bleeding and bruising due to low platelet count. The enlargement of the spleen may become severe and may limit a child's growth due to the energy required to sustain the enlarging spleen. An enlarged liver and abnormal liver function tests are also characteristic signs. Skeletal involvement by Gaucher disease is common and can take the form of bone pain, fractures of bone, and a defect of the thigh bone (femur).