Thrombophilia natural history, complications and prognosis
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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, and 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.
- In certain studies, 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 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.
- Acquired thrombophilias are more commonly observed among elderly patients (age > 60) as age is a risk factor for thrombosis.
- Inherited thrombophilias can be seen among young patients aged <40-55 years old.
Gender
- Epidemiologic studies have provided mixed results regarding the effect of gender on venous thrombosis. Certain groups observed increased risk of thrombosis in younger females and older males, whereas other groups found similar frequencies in both genders[7].
- A prospective follow up study performed by Christiansen et al, revealed an age corrected hazard ratio of 2.7 of recurrent thrombosis in male patients with inherited thrombophilias compared to women[8].
- In patients with inherited thrombophilias, a prospective follow up study performed by Christiansen et al revealed an age corrected hazard ratio of 2.7 for recurrent thrombosis in male patients compared to women[8].
Race
- The factor V leiden G1691A and prothrombin G20210A mutations are exceedingly rare in non-white populations[2].
Epidemiology and Demographics
Prevalence of select inherited thrombophilias among whites
| 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 |
- In African and Asian patients, the prevalence of factor V leiden was approximately 0.05% and the prevalence of prothrombin G20210A was approximately 0.06%.
This data were consolidated from multiple sources[2][6][9][10][11]
References
- ↑ 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.
- ↑ 2.0 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 6.0 6.1 6.2 Cohoon KP, Heit JA (2014). "Inherited and secondary thrombophilia". Circulation. 129 (2): 254–7. doi:10.1161/CIRCULATIONAHA.113.001943. PMC 3979345. PMID 24421360.
- ↑ 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.
- ↑ 8.0 8.1 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
- ↑ 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) - ↑ 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) - ↑ 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)