Global Incidence and Prevalence of Gaucher Disease: A Targeted Literature Review

Incidence and prevalence estimates for Gaucher disease (GD) are scarce for this rare disease and can be variable within the same region. This review provides a qualitative synthesis of global GD incidence and prevalence estimates, GD1–3 type-specific and overall, published in the last 10 years. A targeted literature search was conducted across multiple databases from January 2011 to September 2020, including web-based sources and congress proceedings to May 2021. Searches yielded 490 publications, with 31 analyzed: 20 cohort studies (15 prospective, 5 retrospective), 6 cross-sectional studies, 5 online reports (most from Europe (n = 11) or North America (n = 11); one multiregional). Across all GD types, incidence estimates ranged 0.45–25.0/100,000 live births (16 studies), lowest for Asia-Pacific. Incidence of GD1: 0.45–22.9/100,000 live births (Europe and North America) and GD3: 1.36/100,000 live births (Asia-Pacific only). GD type-specific prevalence estimates per 100,000 population were GD1: 0.26–0.63; GD2 and GD3: 0.02–0.08 (Europe only); estimates for GD type unspecified or overall ranged 0.11–139.0/100,000 inhabitants (17 studies), highest for North America. Generalizability was assessed as “adequate”or “intermediate” for all regions with data. GD incidence and prevalence estimates for the last 10 years varied considerably between regions and were poorly documented outside Europe and North America. Data for GD2 and GD3 were limited.