There are three types of Gaucher disease. The type of Gaucher disease a person has depends on whether the central nervous system (spine, brain and nerves) is involved. It also depends on the severity of that involvement.

Type 1

Affects organs and tissues, and is the only type that generally doesn’t involve the central nervous system, which includes the brain.

Symptoms can begin to develop in early childhood or adulthood. They include:

Type 2

Can involve the organs and tissues, but also the central nervous system, which includes the brain.

Symptoms begin in infancy and generally lead to death by two years of age. They include:

  • Enlarged spleen
  • Enlarged liver
  • Central nervous system involvement
  • Low haemoglobin (anaemia)
  • Low platelet count

Type 3

Can involve the organs and tissues like Types 1 and 2, but is generally more severe. It involves the central nervous system which includes the brain. It does not progress as Type 2 does, and the effects of the disease on the central nervous system vary.

Symptoms begin to develop in childhood to early adulthood. They include:

  • Enlarged spleen
  • Enlarged liver
  • Central nervous system involvement
  • Low haemoglobin (anaemia)
  • Low platelet count