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Meta-Analysis
. 2023 Sep 14;18(1):292.
doi: 10.1186/s13023-023-02911-2.

Incidence and prevalence of neurofibromatosis type 1 and 2: a systematic review and meta-analysis

Tin-Suet Joan Lee #  1 , Meera Chopra #  1 , Raymond H Kim  2   3 , Patricia C Parkin  4   5 , Carolina Barnett-Tapia  6   7   8   9
Affiliations
Meta-Analysis

Incidence and prevalence of neurofibromatosis type 1 and 2: a systematic review and meta-analysis

Tin-Suet Joan Lee et al. Orphanet J Rare Dis. .

Abstract

Objective: To obtain updated estimates of the incidence and prevalence of neurofibromatosis type 1 (NF1) and type 2 (NF2).

Study design: We conducted a systematic search of NF1 and NF2 incidence or prevalence studies, in OVID Medline, OVID Embase, Web of Science, and Cinahl. Studies were appraised with the Joanna Briggs Institute Prevalence Critical Appraisal tool. Pooled incidence and prevalence rates were estimated through random-effects meta-analysis.

Results: From 1,939 abstracts, 20 studies were fully appraised and 12 were included in the final review. Pooled NF1 prevalence was 1 in 3,164 (95%CI: 1 in 2,132-1 in 4,712). This was higher in studies that screened for NF1, compared to identification of NF1 through medical records (1 in 2,020 and 1 in 4,329, respectively). NF1 pooled birth incidence was 1 in 2,662 (95%CI: 1 in 1,968-1 in 3,601). There were only 2 studies on NF2 prevalence, so data were not pooled. Pooled NF2 birth incidence was 1.08 per 50,000 births (95%CI: 1 in 32,829-1 in 65,019).

Conclusion: We present updated estimates of the incidence and prevalence of NF1 and NF2, to help plan for healthcare access and allocation. The prevalence of NF1 from screening studies is higher than from medical record studies, suggesting that the disease may be under recognized. More studies are needed regarding the prevalence of NF2.

Keywords: Incidence rate; Neurofibromatosis 1; Neurofibromatosis 2; Prevalence rate.

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Conflict of interest statement

JL: has no competing interests. MC: has no competing interests. RK: has received grant support from the Children’s Tumor Foundation. PP: has received grant support from the Hospital for Sick Children Foundation and Canadian Institutes of Health Research. CB: has received grant support from US Department of Defense, MGNet, NIH, Muscular Dystrophy Canada, Grifols and Octapharma. She has received honoraria for consulting with Alexion, Sanofi, Argenx, CSL.

Figures

Fig. 1
Fig. 1
Flow Diagram of Literature Search. PRISMA diagram of the search process, review and final manuscripts included in the review
Fig. 2
Fig. 2
Forest Plots of Random Effects Metanalysis for NF1 prevalence. Prevalence estimates are per 10,000 inhabitants. GLMM: Generalized linear mixed model
Fig. 3
Fig. 3
Forest Plot of Random Effects Metanalysis for NF and NF2 birth incidence. Panel A depicts estimates for NF1 birth incidence, estimates are per 10,000 live births. Panel B depicts estimates for NF2 birth incidence, estimates are per 50,000 live births. GLMM: Generalized linear mixed model
See this image and copyright information in PMC

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