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==Overview==
==Overview==
* Due to the multitude and complexity of inherited thrombophilias, the true prevalence is unknown. Current data may be providing an underestimate. Comparison among different epidemiologic studies becomes difficult due to variation in study design and inclusion criteria.
* Prevalence of common inherited thrombophilias is variable among both healthy patients and patients with recurrent thrombosis.
* According to epidemiologic and modeling studies obtained from certain sources<ref name="pmid26780744">{{cite journal| author=Stevens SM, Woller SC, Bauer KA, Kasthuri R, Cushman M, Streiff M et al.| title=Guidance for the evaluation and treatment of hereditary and acquired thrombophilia. | journal=J Thromb Thrombolysis | year= 2016 | volume= 41 | issue= 1 | pages= 154-64 | pmid=26780744 | doi=10.1007/s11239-015-1316-1 | pmc=4715840 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=26780744  }} </ref><ref name="pmid11309638">{{cite journal| author=Seligsohn U, Lubetsky A| title=Genetic susceptibility to venous thrombosis. | journal=N Engl J Med | year= 2001 | volume= 344 | issue= 16 | pages= 1222-31 | pmid=11309638 | doi=10.1056/NEJM200104193441607 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=11309638  }} </ref>, the prevalence of inherited thrombophilias was estimated to be between 0.01-7% in caucasians.
* The prevalence of inherited thrombophilias, specifically, activated protein C resistance and prothrombin G20210A, rises to approximately 24-37% in patients with documented venous thrombosis compared to less than 10% among controls<ref name="pmid9669991">{{cite journal| author=Margaglione M, Brancaccio V, Giuliani N, D'Andrea G, Cappucci G, Iannaccone L et al.| title=Increased risk for venous thrombosis in carriers of the prothrombin G-->A20210 gene variant. | journal=Ann Intern Med | year= 1998 | volume= 129 | issue= 2 | pages= 89-93 | pmid=9669991 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=9669991  }} </ref><ref name="pmid7877648">{{cite journal| author=Ridker PM, Hennekens CH, Lindpaintner K, Stampfer MJ, Eisenberg PR, Miletich JP| title=Mutation in the gene coding for coagulation factor V and the risk of myocardial infarction, stroke, and venous thrombosis in apparently healthy men. | journal=N Engl J Med | year= 1995 | volume= 332 | issue= 14 | pages= 912-7 | pmid=7877648 | doi=10.1056/NEJM199504063321403 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=7877648  }} </ref><ref name="pmid7902898">{{cite journal| author=Koster T, Rosendaal FR, de Ronde H, Briët E, Vandenbroucke JP, Bertina RM| title=Venous thrombosis due to poor anticoagulant response to activated protein C: Leiden Thrombophilia Study. | journal=Lancet | year= 1993 | volume= 342 | issue= 8886-8887 | pages= 1503-6 | pmid=7902898 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=7902898  }} </ref>.
* The incidence of inherited thrombophilia in incident venous thrombosis is approximately 150-840 per 100,000 person years<ref name="pmid24421360">{{cite journal| author=Cohoon KP, Heit JA| title=Inherited and secondary thrombophilia. | journal=Circulation | year= 2014 | volume= 129 | issue= 2 | pages= 254-7 | pmid=24421360 | doi=10.1161/CIRCULATIONAHA.113.001943 | pmc=3979345 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24421360  }} </ref>.
* The incidence of inherited thrombophilia in recurrent venous thrombosis is approximately 3,500-10,500 per 100,000 person-years<ref name="pmid24421360">{{cite journal| author=Cohoon KP, Heit JA| title=Inherited and secondary thrombophilia. | journal=Circulation | year= 2014 | volume= 129 | issue= 2 | pages= 254-7 | pmid=24421360 | doi=10.1161/CIRCULATIONAHA.113.001943 | pmc=3979345 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24421360  }} </ref>.
===Age===
*Patients of all age groups may develop thrombophilias. 
*Inherited thrombophilias are more commonly observed among patients aged <40-55 years old.
*Acquired thrombophilias are more commonly observed among elderly patients (age > 60) as age is a risk factor for thrombosis.
===Gender===
*Epidemiologic studies have provided mixed results regarding the effect of gender on venous thrombosis. Certain groups observed increased risk of throbmosis in younger femals and older males, whereas other groups found similar frequencies in both genders<ref name="pmid12814979">{{cite journal| author=White RH| title=The epidemiology of venous thromboembolism. | journal=Circulation | year= 2003 | volume= 107 | issue= 23 Suppl 1 | pages= I4-8 | pmid=12814979 | doi=10.1161/01.CIR.0000078468.11849.66 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12814979  }} </ref>.
===Race===
* The factor V leiden G1691A and prothrombin G20210A mutations are exceedingly rare in non-white populations<ref name="pmid11309638">{{cite journal| author=Seligsohn U, Lubetsky A| title=Genetic susceptibility to venous thrombosis. | journal=N Engl J Med | year= 2001 | volume= 344 | issue= 16 | pages= 1222-31 | pmid=11309638 | doi=10.1056/NEJM200104193441607 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=11309638  }} </ref>.
==Epidemiology and Demographics==
==Epidemiology and Demographics==
===Prevalence of various inherited thrombophilias and their clinical impact===
===Prevalence of various inherited thrombophilias and their clinical impact===

Revision as of 19:50, 25 June 2016

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Asiri Ediriwickrema, M.D., M.H.S. [2]

Overview

  • Due to the multitude and complexity of inherited thrombophilias, the true prevalence is unknown. Current data may be providing an underestimate. Comparison among different epidemiologic studies becomes difficult due to variation in study design and inclusion criteria.
  • Prevalence of common inherited thrombophilias is variable among both healthy patients and patients with recurrent thrombosis.
  • According to epidemiologic and modeling studies obtained from certain sources[1][2], the prevalence of inherited thrombophilias was estimated to be between 0.01-7% in caucasians.
  • The prevalence of inherited thrombophilias, specifically, activated protein C resistance and prothrombin G20210A, rises to approximately 24-37% in patients with documented venous thrombosis compared to less than 10% among controls[3][4][5].
  • The incidence of inherited thrombophilia in incident venous thrombosis is approximately 150-840 per 100,000 person years[6].
  • The incidence of inherited thrombophilia in recurrent venous thrombosis is approximately 3,500-10,500 per 100,000 person-years[6].

Age

  • Patients of all age groups may develop thrombophilias.
  • Inherited thrombophilias are more commonly observed among patients aged <40-55 years old.
  • Acquired thrombophilias are more commonly observed among elderly patients (age > 60) as age is a risk factor for thrombosis.

Gender

  • Epidemiologic studies have provided mixed results regarding the effect of gender on venous thrombosis. Certain groups observed increased risk of throbmosis in younger femals and older males, whereas other groups found similar frequencies in both genders[7].

Race

  • The factor V leiden G1691A and prothrombin G20210A mutations are exceedingly rare in non-white populations[2].

Epidemiology and Demographics

Prevalence of various inherited thrombophilias and their clinical impact

Disorder Healthy subjects/General population (%) Patients with known thrombosis (%) Estimated increase in thrombosis risk
Antithrombin deficiency 0.02 1 - 4 10 - 20X
Dysfibrinogenemia <1 <1 Variable
Protein C deficiency 0.2 - 0.4 3 - 5 10X
Protein S deficiency 0.3 - 0.13 2 - 4 10X
Factor V Leiden 1 - 15 18 - 40 5X
G20210A prothrombin gene mutation 2 - 5 7 - 16 3X
Hyperhomocystenemia 5 10 3X
Elevated factor VIII levels 11 25 5X

The table has been adapted from Best Pract Res Clin Obstet Gynaecol. 2003 Jun;17(3):397-411[8] and data has been obtained from references[2][9][10].

References

  1. ↑ Stevens SM, Woller SC, Bauer KA, Kasthuri R, Cushman M, Streiff M; et al. (2016). "Guidance for the evaluation and treatment of hereditary and acquired thrombophilia". J Thromb Thrombolysis. 41 (1): 154–64. doi:10.1007/s11239-015-1316-1. PMC 4715840. PMID 26780744.
  2. ↑ 2.0 2.1 2.2 Seligsohn U, Lubetsky A (2001). "Genetic susceptibility to venous thrombosis". N Engl J Med. 344 (16): 1222–31. doi:10.1056/NEJM200104193441607. PMID 11309638.
  3. ↑ Margaglione M, Brancaccio V, Giuliani N, D'Andrea G, Cappucci G, Iannaccone L; et al. (1998). "Increased risk for venous thrombosis in carriers of the prothrombin G-->A20210 gene variant". Ann Intern Med. 129 (2): 89–93. PMID 9669991.
  4. ↑ Ridker PM, Hennekens CH, Lindpaintner K, Stampfer MJ, Eisenberg PR, Miletich JP (1995). "Mutation in the gene coding for coagulation factor V and the risk of myocardial infarction, stroke, and venous thrombosis in apparently healthy men". N Engl J Med. 332 (14): 912–7. doi:10.1056/NEJM199504063321403. PMID 7877648.
  5. ↑ Koster T, Rosendaal FR, de Ronde H, Briët E, Vandenbroucke JP, Bertina RM (1993). "Venous thrombosis due to poor anticoagulant response to activated protein C: Leiden Thrombophilia Study". Lancet. 342 (8886–8887): 1503–6. PMID 7902898.
  6. ↑ 6.0 6.1 Cohoon KP, Heit JA (2014). "Inherited and secondary thrombophilia". Circulation. 129 (2): 254–7. doi:10.1161/CIRCULATIONAHA.113.001943. PMC 3979345. PMID 24421360.
  7. ↑ White RH (2003). "The epidemiology of venous thromboembolism". Circulation. 107 (23 Suppl 1): I4–8. doi:10.1161/01.CIR.0000078468.11849.66. PMID 12814979.
  8. ↑ Buchanan GS, Rodgers GM, Ware Branch D (2003). "The inherited thrombophilias: genetics, epidemiology, and laboratory evaluation". Best Pract Res Clin Obstet Gynaecol. 17 (3): 397–411. PMID 12787534. Unknown parameter |month= ignored (help)
  9. ↑ Franco RF, Reitsma PH (2001). "Genetic risk factors of venous thrombosis". Hum. Genet. 109 (4): 369–84. doi:10.1007/s004390100593. PMID 11702218. Unknown parameter |month= ignored (help)
  10. ↑ Haverkate F, Samama M (1995). "Familial dysfibrinogenemia and thrombophilia. Report on a study of the SSC Subcommittee on Fibrinogen". Thromb. Haemost. 73 (1): 151–61. PMID 7740487. Unknown parameter |month= ignored (help)

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