Global Epidemiology of Gaucher Disease: an Updated Systematic Review and Meta-analysis

J Pediatr Hematol Oncol. 2022 Jul 22. doi: 10.1097/MPH.0000000000002506.

PMID: 35867706

Meimei Wang, Fengqin Li, Jing Zhang

Highlights: This is the first comprehensive systematic review that presented quantitative data of Gaucher disease (GD) global epidemiology.

Abstract

Background: An autosomal recessive lysosomal storage disorder called Gaucher disease (GD) is characterized by progressive glucocerebroside lysosomal accumulation in macrophages, primarily in the bone, bone marrow, liver, and spleen. It was not possible to perform a global GD epidemiological meta-analysis before to this study.

Methods: To give a thorough analysis of the birth prevalence and GD prevalence across multiple countries. Original research articles on the epidemiology of GD were searched in the MEDLINE and EMBASE databases between the year of publication and July 21, 2021. To calculate the birth prevalence and prevalence of GD, meta-analysis using a random-effects logistic model was used.

Results: Data extraction was done using 18 studies that were selected from 1874 records. The research that met the requirements for inclusion covered a total of 15 regions/countries. The global birth prevalence of GD was 1.5 cases [95% confidence interval: 1.0 to 2.0] per 100,000 live births. The global prevalence of GD was 0.9 cases [95% confidence interval: 0.7 to 1.1] per 100,000 inhabitants.

Conclusions: This is the first thorough systematic review of GD global epidemiology to give quantitative data. Quantitative information on the worldwide epidemiology of GD may serve as the basis for assessing global initiatives to create a better world for people with GD.

Keywords: Gaucher disease, Epidemiology, Prevalence, Meta-analysis