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Gaucher disease (GD) happens when your body does not have enough of the enzyme that breaks down a lipid substance in the cell known as glucosylceramide (gloo-ko-sil-SER-a-mide), also called GL-1. This causes GL-1 to build up in certain cells.
Gaucher disease symptoms
GD is a spectrum disorder, meaning it has a range of symptoms and disease severity. This range is usually divided into 3 types. Different types of GD vary in what parts of the body are affected, when symptoms start, and how quickly they progress. All symptoms should be taken seriously.
General symptoms of GD may include:
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Bone pain
Easy bruising
Nosebleeds
Fatigue
Bloated/enlarged belly (abdomen)
Nervous system/ movement disorders
It is important to see a doctor if you are experiencing any of these symptoms. For more information on how Gaucher disease may present in the body, visit
There are 3 types of Gaucher disease
Onset occurs in childhood or adulthood
Also known as non-neuronopathic GD, which means it does not usually involve the brain and spinal cord (the central nervous system). Most patients in the United States with GD have type 1.
It can begin at any age, and symptoms can be mild, moderate, or severe.
Onset is in infancy
Also known as acute infantile neuronopathic GD, which means it is a more severe form of the disease because it affects the central nervous system. The symptoms progress very quickly.
This type of GD could cause death before 2 years of age.
Onset occurs in childhood
Also known as chronic neuronopathic GD, which means it affects the central nervous system. Symptoms are usually seen at a later age than 2 and have a slower progression than in type 2. Worldwide, type 3 may be the most common type of GD.
Many people with GD type 3 reach adulthood.
The sooner you can confirm a Gaucher disease diagnosis, the sooner you can understand the condition and talk with your doctor about possible next steps.
Testing for Gaucher disease is the only way to confirm a diagnosis.
Including Gaucher disease in your differential diagnosis may provide confirmation for patients sooner.