Gaucher Disease

Types of Gaucher Disease

Depending on the symptoms,Gaucher disease is either non-neuronopathic (involving major organs but not the brain) or neuronopathic (affecting major organs including the brain).

Non-neuronopathic Gaucher disease
Type 1 Gaucher disease

This is the most common form of the disease and involves most organs and tissues, but not the brain and central nervous system. It can affect patients at any age and varies widely in symptoms and presentation. Although it may begin at any stage of life, it is generally more severe when symptoms strike in childhood.

Neuronopathic Gaucher disease
Type 2 Gaucher disease

This is a very rare form of the disease that affects the brain as well as the major organs and is characterized by severe neurological involvement in the first year of life. This form of Gaucher disease does not appear to be concentrated within any particular ethnic group. Infants with Type 2 Gaucher disease typically appear normal during the first months of life before the disease rapidly progresses.

Type 3 Gaucher disease

This form is characterized by a slowly progressive brain involvement, in addition to severe disease of the other organs. It is very rare and also not limited to any particular ethnic group, although concentrated cases have been reported in Sweden, Spain and Japan. Symptoms of Type 3 Gaucher disease appear in early childhood and are the same as in Type 1 with the addition of neuronopathic signs and symptoms.

Learn more about the symptoms of Gaucher disease and how it is inherited.