Neurofibromatosis type 1 epidemiology and demographics: Difference between revisions
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==Epidemiology and Demographics== | ==Epidemiology and Demographics== | ||
===Incidence=== | ===Incidence=== | ||
*The incidence | *The incidence of neurofibromatosis type 1 is approximately 33.33 per 100,000 individuals worldwide. | ||
* | *The incidence of neurofibromatosis type 1 is approximately 14-26 per 100,000 individuals in the United States.<ref name="urlEpidemiology of neurofibromatosis type 1 (NF1) in northern Finland | Journal of Medical Genetics" /><ref name="Riccardi1987">{{cite journal|last1=Riccardi|first1=Vincent M.|title=Neurofibromatosis|journal=Neurologic Clinics|volume=5|issue=3|year=1987|pages=337–349|issn=07338619|doi=10.1016/S0733-8619(18)30909-5}}</ref> | ||
===Prevalence=== | ===Prevalence=== | ||
*The prevalence of neurofibromatosis is approximately 33.33 per 100,000 individuals worldwide.<ref name="pmid28230061">{{cite journal |vauthors=Gutmann DH, Ferner RE, Listernick RH, Korf BR, Wolters PL, Johnson KJ |title=Neurofibromatosis type 1 |journal=Nat Rev Dis Primers |volume=3 |issue= |pages=17004 |date=February 2017 |pmid=28230061 |doi=10.1038/nrdp.2017.4 |url=}}</ref><ref name="pmid25354145">{{cite journal |vauthors=Uusitalo E, Leppävirta J, Koffert A, Suominen S, Vahtera J, Vahlberg T, Pöyhönen M, Peltonen J, Peltonen S |title=Incidence and mortality of neurofibromatosis: a total population study in Finland |journal=J. Invest. Dermatol. |volume=135 |issue=3 |pages=904–906 |date=March 2015 |pmid=25354145 |doi=10.1038/jid.2014.465 |url=}}</ref> | *The prevalence of neurofibromatosis is approximately 33.33 per 100,000 individuals worldwide.<ref name="pmid28230061">{{cite journal |vauthors=Gutmann DH, Ferner RE, Listernick RH, Korf BR, Wolters PL, Johnson KJ |title=Neurofibromatosis type 1 |journal=Nat Rev Dis Primers |volume=3 |issue= |pages=17004 |date=February 2017 |pmid=28230061 |doi=10.1038/nrdp.2017.4 |url=}}</ref><ref name="pmid25354145">{{cite journal |vauthors=Uusitalo E, Leppävirta J, Koffert A, Suominen S, Vahtera J, Vahlberg T, Pöyhönen M, Peltonen J, Peltonen S |title=Incidence and mortality of neurofibromatosis: a total population study in Finland |journal=J. Invest. Dermatol. |volume=135 |issue=3 |pages=904–906 |date=March 2015 |pmid=25354145 |doi=10.1038/jid.2014.465 |url=}}</ref> | ||
*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.<ref name="pmid28230061" /><ref name="pmid25354145" /> | *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.<ref name="pmid28230061" /><ref name="pmid25354145" /> | ||
===Case-fatality rate/Mortality rate=== | ===Case-fatality rate/Mortality rate=== | ||
| Line 28: | Line 26: | ||
===Age=== | ===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.<ref name="urlEpidemiology of neurofibromatosis type 1 (NF1) in northern Finland | Journal of Medical Genetics" /> | ||
* 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.<ref name="urlEpidemiology of neurofibromatosis type 1 (NF1) in northern Finland | Journal of Medical Genetics" /> | ||
* 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.<ref name="urlEpidemiology of neurofibromatosis type 1 (NF1) in northern Finland | Journal of Medical Genetics">{{cite web |url=https://jmg.bmj.com/content/37/8/632 |title=Epidemiology of neurofibromatosis type 1 (NF1) in northern Finland | Journal of Medical Genetics |format= |work= |accessdate=}}</ref> | |||
===Race=== | ===Race=== | ||
| Line 53: | Line 51: | ||
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.<ref name="pmid28230061" /><ref name="pmid21439034">{{cite journal |vauthors=Masocco M, Kodra Y, Vichi M, Conti S, Kanieff M, Pace M, Frova L, Taruscio D |title=Mortality associated with neurofibromatosis type 1: a study based on Italian death certificates (1995-2006) |journal=Orphanet J Rare Dis |volume=6 |issue= |pages=11 |date=March 2011 |pmid=21439034 |pmc=3079598 |doi=10.1186/1750-1172-6-11 |url=}}</ref> | 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.<ref name="pmid28230061" /><ref name="pmid21439034">{{cite journal |vauthors=Masocco M, Kodra Y, Vichi M, Conti S, Kanieff M, Pace M, Frova L, Taruscio D |title=Mortality associated with neurofibromatosis type 1: a study based on Italian death certificates (1995-2006) |journal=Orphanet J Rare Dis |volume=6 |issue= |pages=11 |date=March 2011 |pmid=21439034 |pmc=3079598 |doi=10.1186/1750-1172-6-11 |url=}}</ref> | ||
Our linkage studies showed that linked markers/haplotypes show the same result as careful clinical examination in familial cases of NF1, although contradictory results were obtained in two families where linkage data showed the NF1 risk haplotype in a healthy child of an affected parent. One explanation may be that the children were affected but were still at a presymptomatic stage. This would be exceptional, as all our affected cases (reported separately) had developed café au lait macules by the age of 5 years (96% of all patients), and similar observations have been made in earlier reports.<ref name="urlEpidemiology of neurofibromatosis type 1 (NF1) in northern Finland | Journal of Medical Genetics" /><ref name="pmid3145091">{{cite journal |vauthors=Huson SM, Harper PS, Compston DA |title=Von Recklinghausen neurofibromatosis. A clinical and population study in south-east Wales |journal=Brain |volume=111 ( Pt 6) |issue= |pages=1355–81 |date=December 1988 |pmid=3145091 |doi=10.1093/brain/111.6.1355 |url=}}</ref> Another explanation would be that even though the affected parents in both families fulfilled the NIH diagnostic criteria for NF1 (in the first family CFS and freckles, and in the second family neurofibromas and Lisch nodules), they both have another type of NF which is not linked to the ''NF1'' gene. A third explanation would be mosaicism in a parent with NF1 in whom some of the germ cells do not carry the ''NF1'' mutation. A fourth explanation would be non-penetrance of the''NF1'' mutation in the children in question, which has previously been reported in only three cases, a 50 year old woman who had an affected brother, son, and grandson,<ref name="urlEpidemiology of neurofibromatosis type 1 (NF1) in northern Finland | Journal of Medical Genetics" /><ref name="pmid8825042" /> a 45 year old man with an affected mother and daughter,<ref name="urlEpidemiology of neurofibromatosis type 1 (NF1) in northern Finland | Journal of Medical Genetics" /><ref name="pmid8825042">{{cite journal |vauthors=Shen MH, Harper PS, Upadhyaya M |title=Molecular genetics of neurofibromatosis type 1 (NF1) |journal=J. Med. Genet. |volume=33 |issue=1 |pages=2–17 |date=January 1996 |pmid=8825042 |pmc=1051805 |doi=10.1136/jmg.33.1.2 |url=}}</ref> and a subject with an affected father and two affected daughters.<ref name="urlEpidemiology of neurofibromatosis type 1 (NF1) in northern Finland | Journal of Medical Genetics" /><ref name="pmid3105393">{{cite journal |vauthors=Spence MA, Parry DM, Bader JL, Marazita ML, Bocian M, Funderburk SJ, Mulvihill JJ, Sparkes RS |title=Genetic linkage analysis of neurofibromatosis |journal=Ann. N. Y. Acad. Sci. |volume=486 |issue= |pages=287–92 |date=1986 |pmid=3105393 |doi=10.1111/j.1749-6632.1986.tb48081.x |url=}}</ref> Although non-paternity is not probable, one should exclude it with other markers. The finding of possible non-penetrance in the two families in this series will be finally answered only after the families' ''NF1''mutation has been found. | |||
_CausesOne of the potential etiologies for non-familial Neurofibromatosis Type 1 (NF1) is increasing parental age. We sought to evaluate recent evidence for parental age effects in NF1 in a large study. Individuals with NF1 and a comparison group from the U.S. general population born between 1994 and 2012 were ascertained from the NF1 Patient Registry Initiative (NPRI) and the National Center for Vital Statistics, respectively.<ref name="pmid25523354" /><ref name="pmid28230061" /> | _CausesOne of the potential etiologies for non-familial Neurofibromatosis Type 1 (NF1) is increasing parental age. We sought to evaluate recent evidence for parental age effects in NF1 in a large study. Individuals with NF1 and a comparison group from the U.S. general population born between 1994 and 2012 were ascertained from the NF1 Patient Registry Initiative (NPRI) and the National Center for Vital Statistics, respectively.<ref name="pmid25523354" /><ref name="pmid28230061" /> | ||
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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.[1]
Older paternal age may increase the chances for de novo mutations in NF1 gene.[2][3][4]
Epidemiology and Demographics
Incidence
- The incidence of neurofibromatosis type 1 is approximately 33.33 per 100,000 individuals worldwide.
- The incidence of neurofibromatosis type 1 is approximately 14-26 per 100,000 individuals in the United States.[5][6]
Prevalence
- The prevalence of neurofibromatosis is approximately 33.33 per 100,000 individuals worldwide.[7][8]
- 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.[7][8]
Case-fatality rate/Mortality rate
Neurofibromatosis type 1decreases life expectancy in approximately 15-20 years from a normal person.[9][10]
Of the nearly 6.75 million deaths in the study period, 632 had a diagnosis of NF1, yet for nearly three-fourths of them the underlying cause was not coded as neurofibromatosis.[10]
- In [year], the incidence of [disease name] is approximately [number range] per 100,000 individuals with a case-fatality rate/mortality rate of [number range]%.
- The case-fatality rate/mortality rate of [disease name] is approximately [number range].
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.[5]
- 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.[5]
- 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.[5]
Race
- There is no racial predilection to [disease name].
- [Disease name] usually affects individuals of the [race 1] race. [Race 2] individuals are less likely to develop [disease name].
Gender
- [Disease name] affects men and women equally.
- [Gender 1] are more commonly affected by [disease name] than [gender 2]. The [gender 1] to [gender 2] ratio is approximately [number > 1] to 1.
Region
- The majority of [disease name] cases are reported in [geographical region].
- [Disease name] is a common/rare disease that tends to affect [patient population 1] and [patient population 2].
Developed Countries
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.[7][14]
Our linkage studies showed that linked markers/haplotypes show the same result as careful clinical examination in familial cases of NF1, although contradictory results were obtained in two families where linkage data showed the NF1 risk haplotype in a healthy child of an affected parent. One explanation may be that the children were affected but were still at a presymptomatic stage. This would be exceptional, as all our affected cases (reported separately) had developed café au lait macules by the age of 5 years (96% of all patients), and similar observations have been made in earlier reports.[5][15] Another explanation would be that even though the affected parents in both families fulfilled the NIH diagnostic criteria for NF1 (in the first family CFS and freckles, and in the second family neurofibromas and Lisch nodules), they both have another type of NF which is not linked to the NF1 gene. A third explanation would be mosaicism in a parent with NF1 in whom some of the germ cells do not carry the NF1 mutation. A fourth explanation would be non-penetrance of theNF1 mutation in the children in question, which has previously been reported in only three cases, a 50 year old woman who had an affected brother, son, and grandson,[5][16] a 45 year old man with an affected mother and daughter,[5][16] and a subject with an affected father and two affected daughters.[5][17] Although non-paternity is not probable, one should exclude it with other markers. The finding of possible non-penetrance in the two families in this series will be finally answered only after the families' NF1mutation has been found.
_CausesOne of the potential etiologies for non-familial Neurofibromatosis Type 1 (NF1) is increasing parental age. We sought to evaluate recent evidence for parental age effects in NF1 in a large study. Individuals with NF1 and a comparison group from the U.S. general population born between 1994 and 2012 were ascertained from the NF1 Patient Registry Initiative (NPRI) and the National Center for Vital Statistics, respectively.[18][7]
Sporadic neurofibromatosis 1 (NF1) occurs in the absence of a family history of the disease and usually results from a new mutation in the germ cell of one of the parents, most commonly the father.[3][7]
50% of cases of neurofibromatosis type 1 are familial (inherited) and the remainder arise from a de novo NF1 mutation.[7][19]
References
- ↑ "Neurofibromatosis - Orthopaedics and Trauma".
- ↑ 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.
- ↑ 3.0 3.1 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.
- ↑ Snajderova M, Riccardi VM, Petrak B, Zemkova D, Zapletalova J, Mardesic T, Petrakova A, Lanska V, Marikova T, Bendova S, Havlovicova M, Kaluzova M (March 2012). "The importance of advanced parental age in the origin of neurofibromatosis type 1". Am. J. Med. Genet. A. 158A (3): 519–23. doi:10.1002/ajmg.a.34413. PMID 22302476.
- ↑ 5.0 5.1 5.2 5.3 5.4 5.5 5.6 5.7 "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.
- ↑ 7.0 7.1 7.2 7.3 7.4 7.5 7.6 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.
- ↑ 8.0 8.1 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.
- ↑ 10.0 10.1 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.
- ↑ Poyhonen M, Kytölä S, Leisti J (August 2000). "Epidemiology of neurofibromatosis type 1 (NF1) in northern Finland". J. Med. Genet. 37 (8): 632–6. doi:10.1136/jmg.37.8.632. PMC 1734645. PMID 10991696.
- ↑ "Europe PMC, Europe PMC".
- ↑ Samuelsson B, Axelsson R (1981). "Neurofibromatosis. A clinical and genetic study of 96 cases in Gothenburg, Sweden". Acta Derm Venereol Suppl (Stockh). 95: 67–71. PMID 6807042.
- ↑ 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.
- ↑ Huson SM, Harper PS, Compston DA (December 1988). "Von Recklinghausen neurofibromatosis. A clinical and population study in south-east Wales". Brain. 111 ( Pt 6): 1355–81. doi:10.1093/brain/111.6.1355. PMID 3145091.
- ↑ 16.0 16.1 Shen MH, Harper PS, Upadhyaya M (January 1996). "Molecular genetics of neurofibromatosis type 1 (NF1)". J. Med. Genet. 33 (1): 2–17. doi:10.1136/jmg.33.1.2. PMC 1051805. PMID 8825042.
- ↑ Spence MA, Parry DM, Bader JL, Marazita ML, Bocian M, Funderburk SJ, Mulvihill JJ, Sparkes RS (1986). "Genetic linkage analysis of neurofibromatosis". Ann. N. Y. Acad. Sci. 486: 287–92. doi:10.1111/j.1749-6632.1986.tb48081.x. PMID 3105393.
- ↑
- ↑ McKeever K, Shepherd CW, Crawford H, Morrison PJ (September 2008). "An epidemiological, clinical and genetic survey of neurofibromatosis type 1 in children under sixteen years of age". Ulster Med J. 77 (3): 160–3. PMC 2604471. PMID 18956796.