Thrombophilia epidemiology and demographics
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: 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. 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
- In venous thromboembolism (VTE), which includes deep vein thrombosis (DVT) and pulmonary embolism (PE), the annual incidence is 1 per 100000 in children, 1 per 10000 in reproductive age, 1 per 1000 in later middle age, and 1 per 100 in elderly. Reports also indicate that the incidence of pulmonary embolism 29 to 48 per 100000 person-years and deep vein thrombosis incidence is 45 to 117 per 100000 person-years. Naess et al. also found that the incidence is higher in women compared to men and increased in patients with cancer compared to those without cancer. Studies demonstrate that there is an increased incidence of venous thrombosis in people of European descent compared with non-Europeans. The annual incidence rate of a first VTE event is estimated as 117 per 100,000 individuals per year. The most common presentations are symptomatic DVT of the leg (annual incidence approximately 48 per 100,000 people), or a pulmonary embolism (annual incidence approximately 69 per 100,000 people). Pulmonary embolism results in death in up to 30% of untreated patients and 2.5% of patients who receive systemic anticoagulation.
- The epidemiology of thrombosis varies depends 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] [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 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
- Frequency of thrombophilias:
- APS, APC resistance, elevated factor VIII: 25 to 28%
- Protein C deficiency, Protein S deficiency, Hyperhomocysteinemia and Prothrombin mutation: 5 to 10%
Prevalence
The prevalence of thrombophilia in Caucasian populations is:[2][6][7][8][9]
| 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 |
Factor V Leiden
The most frequent form of inherited thrombophilia is Factor V Leiden (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 prothrombon prevalence of prothrombin G20210A thrombophilia in African and Asian populations is approximately 600 per 100,000 individuals worldwide.[2][6]
Age
- Patients of all age groups may develop thrombophilias
- Acquired thrombophilias are more commonly observed among elderly patients (age > 60)
- Inherited thrombophilias may be observed among young patients between 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.[10]
- 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.[11]
Race
The Factor V Leiden G1691A and prothrombin G20210A mutations usually affects individuals of the Caucasian race. Non-white individuals are less likely to develop these thrombophilias.[2]
- Estimates of the incidence of mild protein C deficiency are between 1 in 200 to 1 in 500 individuals. The incidence of clinically substantial protein C deficiency is estimated to be 1 in 20000 people. Severe protein C deficiency is rare and is predicted to occur in 1 in 4 million infants. The rarity of observed severe protein C deficiency may be attributable to underdiagnosis or under-reporting.
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 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.
- ↑ 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 6.3 6.4 6.5 6.6 Cohoon KP, Heit JA (2014). "Inherited and secondary thrombophilia". Circulation. 129 (2): 254–7. doi:10.1161/CIRCULATIONAHA.113.001943. PMC 3979345. PMID 24421360.
- ↑ 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) - ↑ 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.
- ↑ 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