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Thrombophilia epidemiology and demographics

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Asiri Ediriwickrema, M.D., M.H.S. [2] Jaspinder Kaur, MBBS[3]

Overview

Due to the multitude and complexity of inherited thrombophilias, the true prevalence is unknown; current data may be providing an underestimate. The prevalence of thrombophilia in Caucasians is approximately 10-7,000 per 100,000 individuals worldwide.[1][2] The prevalence of inherited thrombophilias, specifically, activated protein C resistance and prothrombin G20210A , rises to approximately 10-60% in patients with documented venous thrombosis compared to less than 10% among patients without documented venous thrombosis.[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]

Epidemiology and Demographics

Incidence

  • The epidemiology of thrombosis varies depending upon the following factors:
    • Venous vs Arterial
    • Provoked vs Unprovoked
    • First episode vs Subsequent episode
  • Inherited thrombophilia: The incidence of incident and recurrent venous thrombosis in inherited disorders is approximately 150-840 and 3,500-10,500 per 100,000 individuals respectively. [6]
  • Venous thromboembolism: It is the second most common cardiovascular disorder following myocardial infarction and more frequent than stroke with the incidence range of 1-5 in 1000 per year in the general population. Its annual incidence is age dependent which follow as:
    • Children: 1 per 100000 per year
    • Adults: 1 per 1000 per year
    • Elderly: 1 per 100 per year [7]
  • Frequency of thrombophilias:
    • APS, APC resistance, elevated factor VIII: 25 to 28% [8]
    • Protein C deficiency, Protein S deficiency, Hyperhomocysteinemia and Prothrombin mutation: 5 to 10% [8]
    • Pulmonary embolism: 29 to 48 per 100000 person-years
    • Deep vein thrombosis: 45 to 117 per 100000 person-years [9]

Prevalence

The prevalence of thrombophilia in Caucasian populations is:[2][6][10][11][12]

Inherited thrombophilia Healthy subjects/General population (%) Patients with recurrent thrombosis (%)
Factor V Leiden 1 – 20 18 – 50
Prothrombin G20210A 2 – 8 7 – 20
Antithrombin deficiency 0.02-2 1 – 5
Dysfibrinogenemia <1 <1
Protein C deficiency 0.2 – 5 3 – 10
Protein S deficiency 0.3 – 3 2 – 10
Hyperhomocystenemia <5 <10
Elevated factor VIII levels 11 25

Age

  • Thrombophilias may develop in patients irrespective of their age groups.
  • Acquired thrombophilias: They are more commonly observed among elderly patients who are more than 60 years old.
  • Inherited thrombophilias: Young patients between 40-55 years old more likely carries the risk of inherited thrombophilias.

Gender

  • Several epidemiologic studies have reported mixed results regarding the effect of gender on venous thrombosis.
  • Certain groups observed an increased risk of thrombosis in younger females and older males, while others found similar frequencies in both the genders.[13]
  • Christiansen et al conducted a prospective follow up study in patients with inherited thrombophilias, and revealed an age corrected hazard ratio of 2.7 for recurrent thrombosis in male patients compared to women. [14]

Race

  • The Factor V Leiden G1691A and prothrombin G20210A mutations usually affects individuals of the Caucasian race in comparison to non-white individuals. [2]

Factor V Leiden

  • The most frequent form of inherited thrombophilia is Factor V Leiden with 20-50% prevalence in patients with recurrent venous thrombosis.
  • The prevalence of Factor V Leiden thrombophilia in African and Asian populations is approximately 500 per 100,000 individuals worldwide.[2][6]

Prothrombin G20210A

  • The second most frequent form of inherited thrombophilia is prothrombin G20210A.
  • Its prevalence in African and Asian populations is approximately 600 per 100,000 individuals worldwide.[2][6]

Protein C deficiency

  • Mild protein C deficiency: 1 in 200 to 1 in 500 individuals. [15]
  • Clinically significant protein C deficiency: 1 in 20000 people.
  • Severe protein C deficiency: Rarely found among 1 in 4 million infants which may be attributable to underdiagnosis or under-reporting. [16]

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 2.3 2.4 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 6.2 6.3 6.4 6.5 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. ↑ Naess IA, Christiansen SC, Romundstad P, Cannegieter SC, Rosendaal FR, Hammerstrøm J (2007). “Incidence and mortality of venous thrombosis: a population-based study”. J Thromb Haemost. 5 (4): 692–9. doi:10.1111/j.1538-7836.2007.02450.x. PMID 17367492.
  8. ↑ 8.0 8.1 Thomas RH (2001). “Hypercoagulability syndromes”. Arch Intern Med. 161 (20): 2433–9. doi:10.1001/archinte.161.20.2433. PMID 11700155.
  9. ↑ Heit JA, Spencer FA, White RH (2016). “The epidemiology of venous thromboembolism”. J Thromb Thrombolysis. 41 (1): 3–14. doi:10.1007/s11239-015-1311-6. PMC 4715842. PMID 26780736.
  10. ↑ 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)
  11. ↑ 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)
  12. ↑ 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)
  13. ↑ 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.
  14. ↑ Christiansen SC, Cannegieter SC, Koster T, Vandenbroucke JP, Rosendaal FR (2005). “Thrombophilia, clinical factors, and recurrent venous thrombotic events”. JAMA. 293 (19): 2352–61. doi:10.1001/jama.293.19.2352. PMID 15900005. Review in: Evid Based Med. 2006 Apr;11(2):59
  15. ↑ Tait RC, Walker ID, Reitsma PH, Islam SI, McCall F, Poort SR; et al. (1995). “Prevalence of protein C deficiency in the healthy population”. Thromb Haemost. 73 (1): 87–93. PMID 7740502.
  16. ↑ Goldenberg NA, Manco-Johnson MJ (2008). “Protein C deficiency”. Haemophilia. 14 (6): 1214–21. doi:10.1111/j.1365-2516.2008.01838.x. PMID 19141162.

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