Type 2 & Type 3 disease

Both types 2 and 3 Gaucher disease will have some of the same symptoms as type 1, but they also will have some brain disease as well. 

There is no clear cut off between types 2 and 3 Gaucher disease although type 2 only affects very young children.

  • Type 2 disease: is a very serious and rare form of the disease which has a range of symptoms that are seen in type 1 disease and a number of other problems that affect the eyes, brain and muscles including eye squinting, rigid arms and legs, seizures and difficulty in swallowing. These additional symptoms are called ‘neuronopathic’. Therefore type 2 disease is sometimes called ‘acute neuronopathic Gaucher disease’ and affected children often do not live longer than 2 years.
  • Type 3 disease: is also very rare and in addition to the symptoms seen in type 1, it also shows neuronopathic symptoms. However, these neuronopathic symptoms are less severe than the neuronopathic symptoms in type 2 disease. It is sometimes called ‘chronic neuropathic Gaucher disease’. The disease develops more slowly than type 2 and people who reach their teenage years can live up to 40 years of age.

Children with type 3 disease who have little or no brain problems to start with can often get diagnosed as type 1 disease. Although people with type 3 disease can be found in any country, the largest number of patients is found in an area of Sweden called Norrbotten.