Roope A Kallionpää1, Elina Uusitalo1, Jussi Leppävirta2,3, Minna Pöyhönen4,5, Sirkku Peltonen2,3, Juha Peltonen6. 1. Department of Cell Biology and Anatomy, Institute of Biomedicine, University of Turku, Turku, Finland. 2. Department of Dermatology and Venereology, University of Turku, Turku, Finland. 3. Department of Dermatology, Turku University Hospital, Turku, Finland. 4. Department of Clinical Genetics, HUSLAB, Helsinki University Central Hospital, Helsinki, Finland. 5. Department of Medical and Clinical Genetics, University of Helsinki, Helsinki, Finland. 6. Department of Cell Biology and Anatomy, Institute of Biomedicine, University of Turku, Turku, Finland. juhpel@utu.fi.
Abstract
PURPOSE: The incidence of neurofibromatosis 1 (NF1) is ~1/2,000 live births, but the current estimates of prevalence vary greatly. This retrospective total-population study was aimed at determining the prevalence of NF1 in Finland. METHODS: All secondary and tertiary referral centers of Finland were searched for NF1 patients. Patient records were manually reviewed and patients fulfilling the National Institutes of Health diagnostic criteria for NF1 were included. Prevalence on 31 December 2005 was determined. Data on incidence and survival were combined to refine the prevalence estimation. RESULTS: A total of 1,279 patients with NF1 were alive on 31 December 2005, yielding a prevalence of 1/4,088 (95% confidence interval (CI) 1/4,320-1/3,869). The survival of patients with NF1 was inferior compared with the general population (hazard ratio 3.10, 95% CI 2.73-3.53, P < 0.001). When the survival rates of NF1 patients and the Finnish population were combined with an estimate of NF1 incidence, a prevalence of 1/2,052 (95% CI 1/2,176-1/1,941) was estimated for NF1 in a population aged 0-74 years. CONCLUSION: NF1 is a much more common disorder than previously thought. A large proportion of NF1 patients may not be correctly identified by health-care systems or they do not seek secondary health care for their NF1.
PURPOSE: The incidence of neurofibromatosis 1 (NF1) is ~1/2,000 live births, but the current estimates of prevalence vary greatly. This retrospective total-population study was aimed at determining the prevalence of NF1 in Finland. METHODS: All secondary and tertiary referral centers of Finland were searched for NF1 patients. Patient records were manually reviewed and patients fulfilling the National Institutes of Health diagnostic criteria for NF1 were included. Prevalence on 31 December 2005 was determined. Data on incidence and survival were combined to refine the prevalence estimation. RESULTS: A total of 1,279 patients with NF1 were alive on 31 December 2005, yielding a prevalence of 1/4,088 (95% confidence interval (CI) 1/4,320-1/3,869). The survival of patients with NF1 was inferior compared with the general population (hazard ratio 3.10, 95% CI 2.73-3.53, P < 0.001). When the survival rates of NF1 patients and the Finnish population were combined with an estimate of NF1 incidence, a prevalence of 1/2,052 (95% CI 1/2,176-1/1,941) was estimated for NF1 in a population aged 0-74 years. CONCLUSION: NF1 is a much more common disorder than previously thought. A large proportion of NF1 patients may not be correctly identified by health-care systems or they do not seek secondary health care for their NF1.
Authors: Roope A Kallionpää; Sirkku Peltonen; Jussi Leppävirta; Minna Pöyhönen; Kari Auranen; Hannu Järveläinen; Juha Peltonen Journal: J Med Genet Date: 2020-06-22 Impact factor: 6.318
Authors: Andre Leier; David M Bedwell; Ann T Chen; George Dickson; Kim M Keeling; Robert A Kesterson; Bruce R Korf; Tatiana T Marquez Lago; Ulrich F Müller; Linda Popplewell; Jiangbing Zhou; Deeann Wallis Journal: Mol Ther Nucleic Acids Date: 2020-04-29 Impact factor: 8.886
Authors: Edvard Johansson; Roope A Kallionpää; Petri Böckerman; Juha Peltonen; Sirkku Peltonen Journal: Clin Genet Date: 2021-01-12 Impact factor: 4.438