Neurofibromatosis type 1 epidemiology and demographics
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Moises Romo M.D.
Overview
Neurofibromatosis type 1 is the most common single gene disorder in humans, occurring in about 30 to 40 in 100,000 births worldwide.
The country with major prevalence of neurofibromatosis type 1 reported is Israel, while the one with the least reported in Denmark.
Older paternal age may increase the chances for de novo mutations in NF1 gene.
There is no race or gender predilection for neurofibromatosis type 1.
Epidemiology and Demographics
Incidence
- The incidence of neurofibromatosis type 1 is approximately 33.33 per 100,000 individuals worldwide.[1]
- The incidence of neurofibromatosis type 1 is approximately 14-26 per 100,000 individuals in the United States.[2][3]
Prevalence
- The prevalence of neurofibromatosis type 1 is approximately 33.33 per 100,000 individuals worldwide.[1][4]
- Prevalence can can vary from one country to another, beign 104.1 per 100,000 individuals in Israel to 12.8 per 100,000 individuals in Russia.[1][4]
- The highest prevalence of neurofibromatosis type 1 is in the population between 10 to 19 years old.[2]
Case-fatality rate/Mortality rate
- Neurofibromatosis type 1 decreases life expectancy in approximately 15-20 years from a normal person.[5][6]
- The mean annual frequency of neurofibromatosis type 1-associated deaths was 9.3 per 100,000 deaths.[6][7]
- The mean annual mortality rate associated with neurofibromatosis type 1 is 0.092 per 100,000 people.[7]
Age
- The median age of diagnosis for neurofibromatosis type 1 is usually around 20 years old, although it can range from 3 months to 60 years old.[2]
- Since its a hereditary disorder, patients of all age groups may develop neurofibromatosis type 1 symptoms.
- Prevalence of neurofibromatosis has been found to be increased in individuals born from parents with advanced age.[2][8][9]
- The mean age of mothers who give to birth of a child with neurofibromatosis type 1 is 30 years , while the paternal age is 33.[2]
Race
- There is no racial predilection to neurofibromatosis type 1.[10]
- There seems to be a lower incidence of optic nerve glioma in African-American population.[10]
Gender
- Neurofibromatosis type 1 affects men and women equally.[11]
Region
- The majority of neurofibromatosis type 1 cases are reported in Israel.[2][12]
- The country with less cases of neurofibromatosis type 1 reported is Denmark.[2][13]
Developing Countries
- Many countries lack a proper electronic patient record, so many times, researcher have to rely on death certificates and non-population-based cohorts to estimate risks of neurofibromatosis type 1.[1][14]
References
- ↑ 1.0 1.1 1.2 1.3 Gutmann DH, Ferner RE, Listernick RH, Korf BR, Wolters PL, Johnson KJ (February 2017). "Neurofibromatosis type 1". Nat Rev Dis Primers. 3: 17004. doi:10.1038/nrdp.2017.4. PMID 28230061.
- ↑ 2.0 2.1 2.2 2.3 2.4 2.5 2.6 "Epidemiology of neurofibromatosis type 1 (NF1) in northern Finland | Journal of Medical Genetics".
- ↑ Riccardi, Vincent M. (1987). "Neurofibromatosis". Neurologic Clinics. 5 (3): 337–349. doi:10.1016/S0733-8619(18)30909-5. ISSN 0733-8619.
- ↑ 4.0 4.1 Uusitalo E, Leppävirta J, Koffert A, Suominen S, Vahtera J, Vahlberg T, Pöyhönen M, Peltonen J, Peltonen S (March 2015). "Incidence and mortality of neurofibromatosis: a total population study in Finland". J. Invest. Dermatol. 135 (3): 904–906. doi:10.1038/jid.2014.465. PMID 25354145.
- ↑ Rasmussen SA, Yang Q, Friedman JM (May 2001). "Mortality in neurofibromatosis 1: an analysis using U.S. death certificates". Am. J. Hum. Genet. 68 (5): 1110–8. doi:10.1086/320121. PMC 1226092. PMID 11283797.
- ↑ 6.0 6.1 Masocco M, Kodra Y, Vichi M, Conti S, Kanieff M, Pace M, Frova L, Taruscio D (March 2011). "Mortality associated with neurofibromatosis type 1: a study based on Italian death certificates (1995-2006)". Orphanet J Rare Dis. 6: 11. doi:10.1186/1750-1172-6-11. PMC 3079598. PMID 21439034.
- ↑ 7.0 7.1 Masocco M, Kodra Y, Vichi M, Conti S, Kanieff M, Pace M, Frova L, Taruscio D (March 2011). "Mortality associated with neurofibromatosis type 1: a study based on Italian death certificates (1995-2006)". Orphanet J Rare Dis. 6: 11. doi:10.1186/1750-1172-6-11. PMC 3079598. PMID 21439034.
- ↑ Gutmann DH, Ferner RE, Listernick RH, Korf BR, Wolters PL, Johnson KJ (February 2017). "Neurofibromatosis type 1". Nat Rev Dis Primers. 3: 17004. doi:10.1038/nrdp.2017.4. PMID 28230061.
- ↑ Bunin GR, Needle M, Riccardi VM (1997). "Paternal age and sporadic neurofibromatosis 1: a case-control study and consideration of the methodologic issues". Genet. Epidemiol. 14 (5): 507–16. doi:10.1002/(SICI)1098-2272(1997)14:5<507::AID-GEPI5>3.0.CO;2-Y. PMID 9358268.
- ↑ 10.0 10.1 "What are the racial predilections for neurofibromatosis type 1 (NF1)?".
- ↑ "www.orpha.net" (PDF).
- ↑ Garty BZ, Laor A, Danon YL (November 1994). "Neurofibromatosis type 1 in Israel: survey of young adults". J. Med. Genet. 31 (11): 853–7. doi:10.1136/jmg.31.11.853. PMC 1016658. PMID 7853369.
- ↑ BORBERG A (1951). "Clinical and genetic investigations into tuberous sclerosis and Recklinghausen's neurofibromatosis; contribution to elucidation of interrelationship and eugenics of the syndromes". Acta Psychiatr Neurol Scand Suppl. 71: 1–239. PMID 14877597.
- ↑ Masocco M, Kodra Y, Vichi M, Conti S, Kanieff M, Pace M, Frova L, Taruscio D (March 2011). "Mortality associated with neurofibromatosis type 1: a study based on Italian death certificates (1995-2006)". Orphanet J Rare Dis. 6: 11. doi:10.1186/1750-1172-6-11. PMC 3079598. PMID 21439034.