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Meta-Analysis
. 2023 May 1;45(4):181-188.
doi: 10.1097/MPH.0000000000002506. Epub 2022 Jul 22.

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

Meimei Wang  1 , Fengqin Li  1 , Jing Zhang  2 , Cheng Lu  3 , Weijing Kong  1
Affiliations
Meta-Analysis

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

Meimei Wang et al. J Pediatr Hematol Oncol. .

Abstract

Background: Gaucher disease [GD], 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 GD epidemiology was not available before this study.

Methods: To provide a systematic review and meta-analysis of birth prevalence and prevalence of GD in multiple countries. MEDLINE and EMBASE databases were searched for original research articles on the epidemiology of GD from inception until July 21, 2021. Meta-analysis, adopting a random-effects logistic model, was performed to estimate the birth prevalence and prevalence of GD.

Results: Eighteen studies that were screened 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 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 comprehensive systematic review that presented quantitative data of GD global epidemiology. Quantitative data on global epidemiology of GD could be the fundamental to evaluate the global efforts on building a better world for GD patients.

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Conflict of interest statement

The authors declare no conflict of interest.

Figures

FIGURE 1
FIGURE 1
PRISMA flow-chart showing the process of literature search and study selection.
FIGURE 2
FIGURE 2
Forest plot of the estimated birth prevalence of Gaucher disease per 100,000 cases along with 95% confidence interval. Weights and between-subgroup heterogeneity test are from random-effects model.
FIGURE 3
FIGURE 3
Forest plot of the estimated prevalence of Gaucher disease (GD) per 100,000 cases along with 95% confidence interval. Weights and between-subgroup heterogeneity test are from random-effects model.
FIGURE 4
FIGURE 4
Forest plot of the estimated birth prevalence of Gaucher disease (GD) type 1 (A), type 2 (B), and type 3 (C) per 100,000 cases along with 95% confidence interval. Weights and between-subgroup heterogeneity test are from random-effects model.
FIGURE 5
FIGURE 5
Funnel plot for the estimated birth prevalence (A) and prevalence (B) of Gaucher disease.
See this image and copyright information in PMC

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