Type 1 disease

This is the most common type of Gaucher disease and although it was sometimes known as ‘adult Gaucher disease’ it can affect people of all ages. When people look back they often remember that their first typical Gaucher symptoms started when they were children but they were not diagnosed at the time.

It is also called ‘non-neuronopathic Gaucher disease’ as it does not affect the brain.

Type 1 disease can affect every individual differently. Some people have symptoms from an early age that get worse very quickly, whereas others may not notice any problems until they become adults. There are even some people that have a faulty GBA gene but do not have any noticeable health problems.

The most common sign is a swollen spleen and this can be followed by bone disease and a range of other problems including tiredness, bleeding and bruising and lung disease. Life expectancy has been reported to be reduced by approximately 9 years versus a general population. Nevertheless, people with type 1 Gaucher disease can have a normal life span although they may need lifelong medical support.