Signs and Symptoms

Gaucher disease affects people in different ways. For some people the disease is mild and may not be noticeable until they become adults. For others, their symptoms may develop soon after birth.

Gaucher disease is divided into three types:

  • Type 1 – this is the most common form of Gaucher disease and does not affect patients’ brain. It may include a number of signs and symptoms such as problems with bones, blood, tiredness and a swollen spleen. The disease can also affect liver and lungs. It is sometimes called ‘non-neuronopathic Gaucher disease’.
  • Type 2 – is a very rare and severe form of the disease that only affects very young children. Symptoms appear soon after birth and include those described already, but also involve the brain and nervous system. These can include eye squinting, rigid arms and legs, seizures and difficulty in swallowing. This is sometimes called ‘acute neuronopathic Gaucher disease’. Type 2 is uniformly fatal, children often die before the age of 2. It is an extremely severe form which currently cannot be treated.
  • Type 3 – is also very rare and includes symptoms of the brain and nervous system, but is not as severe as type 2. Symptoms may start in babies but can appear later. They include eye movement disorders and all the symptoms described earlier. It is sometimes called ‘chronic neuronopathic Gaucher disease’.

Although dividing the disease into three types will help doctors manage symptoms, Gaucher disease varies a lot between different people and is often best thought of as a series of different symptoms ranging from mild to severe with increasing brain and nervous system problems.

Knowing the genetic defects of a Gaucher patient can give useful information about how the disease may continue in the future.