Global epidemiology of Gaucher disease: an updated systematic review and meta-analysis

Background: Gaucher disease, an autosomal recessive lysosomal storage disorder, is characterized by progressive lysosomal storage of glucocerebroside in macrophages predominantly in bone, bone marrow, liver, and spleen. Meta-analysis of global Gaucher disease epidemiology was not available prior to this study. Methods To provide a systematic review and meta-analysis of birth prevalence and prevalence of Gaucher disease in multiple countries. MEDLINE and EMBASE databases were searched for original research articles on the epidemiology of Gaucher disease from inception until July 21, 2021. Meta-analysis, adopting a random effects logistic model, was performed to estimate birth prevalence and prevalence of Gaucher disease. Results Eighteen studies that were screened out of 1874 records were included for data extraction. The studies that fulfilled the criteria for inclusion involved 15 areas/countries. The global birth prevalence of Gaucher disease was 1.5 cases (95% CI: 1.0-2.0) per 100,000 live births. The global prevalence of Gaucher disease was 0.9 cases (95% CI: 0.7-1.1) per 100,000 inhabitants. Conclusions To our knowledge, this is the first comprehensive systematic review that presented quantitative data by evaluating global epidemiology of Gaucher disease. Quantitative data of global epidemiology of Gaucher disease could be the fundamental to evaluate the global efforts that improve many factors, including diagnostic technology and data collection, which affect global epidemiology of Gaucher disease.