epidemiology
Last edited 02/2019
Gaucher disease (GD) is a lysosomal storage disorder (LSD) which is inherited as an autosomal recessive condition with an estimated birth frequency of 1:50,000 to 1:100,000 in the European population with a higher incidence of 1:500 to 1:1000 live births in the Ashkenazi Jewish population
- the Gauchers Association in the UK report that in 2016 they knew of 310
people with Gaucher disease in the UK and Ireland (293 adults and children
in Scotland England and Wales and 17 in all of Ireland)
| Type 1 | Type 2 | Type 3 | |
| Phenotype |
Accounts for 95% of GD cases. Diverse phenotypes among patients with identical GBA mutations manifests as variations in the overall severity of the disease, as well as in the pattern of organ involvement Childhood or adult onset varying from asymptomatic to life threatening symptoms. |
Accounts for 1% of GD cases. Typically neonatal-infantile onset with a rapidly progressive fatal course. The median age of death is 9 months |
Accounts for 4% of GD cases. Typically infantile-childhood onset; sub-acute and slowly progressive may result in death during the second decade although some have survived to their 4th decade |
Reference:
- Solutions for Public Health, Screening for Gaucher Disease, A report for the UK National Screening Committee. December 2013
- UK National Screening Committee. Briefing note: Screening for Gaucher disease in newborns. June 2018.