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

Tin-Suet Joan Lee; Meera Chopra; Raymond H Kim; Patricia C Parkin; Carolina Barnett-Tapia

doi:10.1186/s13023-023-02911-2

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

Orphanet J Rare Dis. 2023 Sep 14;18(1):292. doi: 10.1186/s13023-023-02911-2.

Authors

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

¹ Faculty of Medicine, University of Toronto, Toronto, ON, Canada.
² Elisabeth Raab Neurofibromatosis Clinic, University Health Network, Toronto, ON, Canada.
³ Department of Medicine, University Health Network and University of Toronto, Toronto, ON, Canada.
⁴ Institute of Health Policy, Management and Evaluation. Dalla Lana School of Public Health, University of Toronto, Toronto, ON, Canada.
⁵ Department of Pediatrics, The Hospital for Sick Children, University of Toronto, 200 Elizabeth St, Toronto, ON, 5EC-334, Canada.
⁶ Faculty of Medicine, University of Toronto, Toronto, ON, Canada. c.barnetttapia@utoronto.ca.
⁷ Elisabeth Raab Neurofibromatosis Clinic, University Health Network, Toronto, ON, Canada. c.barnetttapia@utoronto.ca.
⁸ Department of Medicine, University Health Network and University of Toronto, Toronto, ON, Canada. c.barnetttapia@utoronto.ca.
⁹ Institute of Health Policy, Management and Evaluation. Dalla Lana School of Public Health, University of Toronto, Toronto, ON, Canada. c.barnetttapia@utoronto.ca.

^# Contributed equally.

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.

Publication types

Meta-Analysis
Systematic Review

MeSH terms

Health Services Accessibility
Humans
Incidence
Medical Records
Neurofibromatosis 1* / epidemiology
Prevalence