Incidence and prevalence

Although a rare disease, Gaucher disease is one of the most common lysosomal storage disorders, alongside Fabry disease.

  • Type 1 (non-neuronopathic) is the most common form with a prevalence of 1 in 50,000 to 100,000. Mistry PK, Cappellini M, Lukina E, et al. Consensus Conference: a reappraisal of Gaucher disease – diagnosis and disease management algorithms. Am J Hematol 2011;86(1):110-115  Although the disease is pan-ethnic there is a high prevalence of type 1 Gaucher disease in certain ethnic groups, notably Ashkenazi Jews who have a disease prevalence of approximately 1 in 850. Mistry PK, Cappellini M, Lukina E, et al. Consensus Conference: a reappraisal of Gaucher disease – diagnosis and disease management algorithms. Am J Hematol 2011;86(1):110-115   Type 1 disease is estimated to account for >90% of all Gaucher disease patients. Mistry PK, Cappellini M, Lukina E, et al. Consensus Conference: a reappraisal of Gaucher disease – diagnosis and disease management algorithms. Am J Hematol 2011;86(1):110-115
  • Type 2 and type 3 disease are very rare conditions with a prevalence <1 in 100,000. Davies EH, Surtees R, DeVile C, Schoon I, Vellodi A. A severity scoring tool to assess the neurological features of neuronopathic Gaucher disease. J Inherit Metab Dis. 2007 Oct;30(5):768-82.
  • Type 3 disease has a higher prevalence reported in Norrbottnian patients from Sweden Dahl N, Lagerstrom M, Erikson A, Pettersson U. Gaucher disease type III (Norbottnian type) is caused by a single mutation in exon 10 of the acid-β glucosidase gene. Am J Hum Genet 1990;47(2):275-8.

However, as with any rare disease, it is difficult to know exactly how many people are actually affected.