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

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

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Bibliographic Details
Published in:Orphanet journal of rare diseases 2023-09, Vol.18 (1), p.1-8, Article 292
Main Authors: Lee, Tin-Suet Joan, Chopra, Meera, Kim, Raymond H, Parkin, Patricia C, Barnett-Tapia, Carolina
Format: Article
Language:English
Subjects:
Analysis
Bias
Births
Care and treatment
Diagnosis
Estimates
Gene mutations
Generalized linear models
Genetic aspects
Genetic disorders
Health aspects
Incidence rate
Medical records
Medical research
Meta-analysis
Mutation
Neurofibromatosis
Neurofibromatosis 1
Neurofibromatosis 2
Neurological disorders
Population
Prevalence rate
Prevalence studies (Epidemiology)
Rare diseases
Recklinghausen's disease
Statistical analysis
Systematic review
Tumor suppressor genes
Tumors
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Summary:To obtain updated estimates of the incidence and prevalence of neurofibromatosis type 1 (NF1) and type 2 (NF2). 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. 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). 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.
ISSN:1750-1172
1750-1172
DOI:10.1186/s13023-023-02911-2