凝血因子Ⅴ Leiden 突变“悖论”的研究进展_Chinese Journal of Respiratory and Critical Care Medicine

Authors：

肖露 ,  傅应云

深圳市人民医院（广东深圳 518000）;

Corresponding author：

傅应云, Email: yingyunf2013@163.com

Keywords：

DOI：

10.7507/1671-6205.201612023

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Citation： 肖露, 傅应云. 凝血因子Ⅴ Leiden 突变“悖论”的研究进展. Chinese Journal of Respiratory and Critical Care Medicine, 2017, 16(5): 516-520. doi: 10.7507/1671-6205.201612023 Copy

1.	熊长明, 郑亚国, 何建国, 等. 2014 版欧洲心脏病学会急性肺血栓栓塞症诊断治疗指南解读. 中国循环杂志, 2014, (11): 864-866.0.
2.	中华医学会呼吸病学分会. 肺血栓栓塞症的诊断与治疗指南(草案). 中华结核和呼吸杂志, 2001, 24(5): 259-264.0.
3.	Zivelin A, Griffin JH, Xu X, et al. A single genetic origin for a common caucasian risk factor for venous thrombosis. Blood, 1997, 89(2): 397-402.
4.	Zoller B, Dahlback B. Linkage between inherited resistance to activated protein C and factor Ⅴ gene mutation in venous thrombosis. Lancet, 1994, 343(8912): 1536-1538.
5.	Pezeshkpoor B, Castoldi E, Mahler A, et al. Identification and functional characterization of a novel F5 mutation (Ala512Val, FVB onn) associated with activated protein C resistance. J Thromb Haemost, 2016, 14(7): 1353-1363.
6.	Dahlback B, Carlsson M. Familial throbophilia due to a preriously unrecognized mechanism characterized by poor anticoagulant response to activated protein C: prediction of a cofactor to activated protein C. Proc Natl Acad Sci U S A, 1993 90(3): 1004-1008.
7.	Voorberg J, Roelse J, Koopman R, et al. Association of idiopathic venous thromboembolism with single point-mutation at Arg506 factor Ⅴ. Lancet, 1994, 343(8912): 1535-1536.
8.	Dorweiler B, Neufang A, Kasper-Koenig W, et al. Arterial embolism to the upper extremity in a patient with Factor V Leiden mutation (APC resistance): a case report and review of the literature. Angiology, 2003, 54(1): 125-130.
9.	Prüller F, Weiss EC, Raggam RB, et al. Activated protein C resistance assay and factor Ⅴ Leiden. N Engl J Med, 2014, 371(7): 685-686.
10.	Kadauke S, Khor B. Activated protein C resistance testing for factor Ⅴ Leiden. Am J Hematol, 2014, 89(12): 1147-1150.
11.	Sundquist K, Wang X, Svensson PJ, et al. Plasminogen activator inhibitor-1 4G/5G polymorphism, factor Ⅴ Leiden, prothrombin mutations and the risk of VTE recurrence. Thromb Haemost, 2015, 114(6): 1156-1164.
12.	Lim MY, Deal AM, Kim S, et al. Thrombophilic risk of individuals with rare compound factor Ⅴ Leiden and prothrombin G20210A polymorphisms: an international case series of 100 individuals. Eur J Haematol, 2016, 97(4): 353-360.
13.	van Stralen KJ, Doggen CJ, Bezemer ID, et al. Mechanisms of the factor Ⅴ Leiden paradox. Arterioscler Thromb Vasc Biol, 2008, 28(10): 1872-1877.
14.	Desmarais S, de Moerloose P, Reber G, et al. Resistance to activated protein C in an unselected population of patients with pulmonary embolism. Lancet, 1996, 347(9012): 1374-1345.
15.	Mäkelburg AB, Veeger NJ, Middeldorp S, et al. Different risk of deep vein thrombosis and pulmonary embolism in carriers with factor Ⅴ Leiden compared with non-carriers, but not in other thrombophilic defects. Results from a large retrospective family cohort study. Haematologica, 2010, 95(6): 1025-1028.
16.	Hooper WC, De Staercke C. The relationship between FV Leiden and pulmonary embolism. Respir Res, 2002, 3(5), 8-10.
17.	Martinelli I, Battaglioli T, Razzari C, et al. Type and location of venous thromboembolism in patients with factor Ⅴ Leiden or prothrombin G20210A and in those with no thrombophilia. Thromb Haemost, 2007, 5(1): 98-101.
18.	Dentali F, Ageno W, Bozzato S, et al. Role of factor Ⅴ Leiden or G20210A prothrombin mutation in patients with symptomatic pulmonary embolism and deep vein thrombosis: a meta-analysis of the literature. J Thromb Haemost, 2012, 10(4): 732-737.
19.	Ali N, Ayyub M. High prevalence of protein C, protein S, antithrombin deficiency, and Factor V Leiden mutation as a cause of hereditary thrombophilia in patients of venous thromboembolism and cerebrovascular accident. Pak J Med Sci, 2014, 30(6): 1323-1326.
20.	Downs J. A patient with Factor V Leiden and a related pulmonary embolism. JAAPA, 2016, 29(2): 34-35.
21.	White CW, Thomason AR. Recurrent venous thromboembolism in a patient with heterozygous factor Ⅴ leiden mutation. Hosp Pharm, 2014, 49(8): 748-751.
22.	Sueta D, Ito M, Uchiba M, et al. A case of pulmonary thromboembolism due to coagulation factor Ⅴ Leiden in Japan--usefulness of next generation sequencing. Thromb J, 2017, 15(2): 8-12.
23.	Manten B, Westendorp RGJ, Koster T, et al. Risk factor profiles in patients with different clinical manifestations of venous thromboembolism: a focus on the factor Ⅴ Leiden mutation. Thromb Haemost, 1996, 76(5): 10-13.
24.	Martinelli I, Cattaneo M, Panzeri D, et al. Low prevalence of factor Ⅴ: Q506 in 41 patients with isolated pulmonary embolism. Thromb Haemost, 1997, 77(4): 40-43.
25.	Baglin TP, Brown K, Williamson D, et al. Relative risk of pulmonary embolism and deep vein thrombosis in association with the factor Ⅴ Leiden mutation in a United Kingdom population. Thromb Haemost, 1997, 77(6): 1219.
26.	Turkstra F, Karemaker R, Kuijer PMM, et al. Is the prevalence of the factor Ⅴ Leiden mutation in patients with pulmonary embolism and deep vein thrombosis really different? Thromb Haemost, 1999, 81(3): 45-48.
27.	Campello E, Spiezia L, Dalla Valle F, et al. Factor V Leiden paradox and the occurrence of distal vein thrombosis in a large cohort of thrombotic patients. Thromb Res, 2017, 156(3): 20-22.
28.	Saeed A, Sumreen null. To determine the frequency of Factor V Leiden in cases of deep vein thrombosis and healthy controls. Pak J Med Sci, 2015, 31(5): 1219-1222.
29.	Corral J, Roldán V, Vicente V. Deep venous thrombosis or pulmonary embolism and factor Ⅴ Leiden: enigma or paradox. Haematologica, 2010, 95(6): 863-866.
30.	Bounameaux H. Factor V Leiden paradox: risk of deep-vein thrombosis but not of pulmonary embolism. Lancet, 2000, 356(22): 182-183.
31.	Bajzar L, Kalafatis M, Simioni P, et al. An antifibrinolytic mechanism describing the prothrombotic effect associated with factor Ⅴ Leiden. Biol Chem, 1996, 271(38): 22949-22952.
32.	Parker AC, Mundada LV, Schmaier AH, et al. Factor V Leiden inhibits fibrinolysis in vivo. Circulation, 2004, 110(23): 3594-3598.
33.	Van Cott EM, Khor B. Factor V Leiden Am J Hematol, 2016, 91(1): 46-49.
34.	Castoldi E. FV and APC resistance: the plot thickens. Blood, 2014, 123(15): 2288-2289.
35.	Huisman MV, Klok FA, Karami Djurabi R, et al. Factor V Leiden is associated with more distal location of deep vein thrombosis of the leg. J Thromb Haemost, 2008, 6(3): 544-545.
36.	Schulman S. Thrombophilia and location of venous thromboembolism. Thromb Haemost, 2007, 5(10): 2151-2152.
37.	Seinturier C, Bosson JL, Colonna M, et al. Site and clinical outcome of deep vein thrombosis of the lower limbs: an epidemiological study. J Thromb Haemost, 2005, 3(7): 1362-1367.
38.	Cooley BC, Szema L, Chen CY, et al. A murine model of deep vein thrombosis: characterization and validation in transgenic mice. Thromb Haemost, 2005, 94(3): 498-503.
39.	Cosmi B, Legnani C, Pengo V, et al. The influence of factor Ⅴ Leiden and G20210A prothrombin mutation on the presence of residual vein obstruction after idiopathic deep-vein thrombosis of the lower limbs. Thromb Haemost, 2013, 109(3): 510-516.
40.	Burnett AE, Mahan CE, Vazquez SR, et al. Guidance for the practical management of the direct oral anticoagulants (DOACs) in VTE treatmentJ Thromb Thrombolysis, 2016, 41(1): 206-232.
41.	van Langevelde K, Flinterman LE, van Hylckama Vlieg A, et al. Broadening the factor Ⅴ Leiden paradox: pulmonary embolism and deep-vein thrombosis as 2 sides of the spectrum. Blood, 2012, 120(5): 933-946.
42.	Hirmerova J, Seidlerova J. The association of factor Ⅴ Leiden with various clinical patterns of venous thromboembolism-the factor Ⅴ Leiden paradox. QJM, 2014, 107(9): 715-720.
43.	Agostini-Vulaj D, Francis CW. Management of concomitant factor ⅥI deficiency and Factor V Leiden mutation. Int J Lab Hematol, 2017, 39(1): e10-e13.
44.	Tzoran I, Papadakis M, Brenner B, et al. Outcome of patients with venous thromboembolism and factor Ⅴ Leiden or prothrombin 20210 carrier mutations during the course of anticoagulation. Am J Med, 2017, 130(4): 482. e1-482.

1. 熊长明, 郑亚国, 何建国, 等. 2014 版欧洲心脏病学会急性肺血栓栓塞症诊断治疗指南解读. 中国循环杂志, 2014, (11): 864-866.0.
2. 中华医学会呼吸病学分会. 肺血栓栓塞症的诊断与治疗指南(草案). 中华结核和呼吸杂志, 2001, 24(5): 259-264.0.
3. Zivelin A, Griffin JH, Xu X, et al. A single genetic origin for a common caucasian risk factor for venous thrombosis. Blood, 1997, 89(2): 397-402.
4. Zoller B, Dahlback B. Linkage between inherited resistance to activated protein C and factor Ⅴ gene mutation in venous thrombosis. Lancet, 1994, 343(8912): 1536-1538.
5. Pezeshkpoor B, Castoldi E, Mahler A, et al. Identification and functional characterization of a novel F5 mutation (Ala512Val, FVB onn) associated with activated protein C resistance. J Thromb Haemost, 2016, 14(7): 1353-1363.
6. Dahlback B, Carlsson M. Familial throbophilia due to a preriously unrecognized mechanism characterized by poor anticoagulant response to activated protein C: prediction of a cofactor to activated protein C. Proc Natl Acad Sci U S A, 1993 90(3): 1004-1008.
7. Voorberg J, Roelse J, Koopman R, et al. Association of idiopathic venous thromboembolism with single point-mutation at Arg506 factor Ⅴ. Lancet, 1994, 343(8912): 1535-1536.
8. Dorweiler B, Neufang A, Kasper-Koenig W, et al. Arterial embolism to the upper extremity in a patient with Factor V Leiden mutation (APC resistance): a case report and review of the literature. Angiology, 2003, 54(1): 125-130.
9. Prüller F, Weiss EC, Raggam RB, et al. Activated protein C resistance assay and factor Ⅴ Leiden. N Engl J Med, 2014, 371(7): 685-686.
10. Kadauke S, Khor B. Activated protein C resistance testing for factor Ⅴ Leiden. Am J Hematol, 2014, 89(12): 1147-1150.
11. Sundquist K, Wang X, Svensson PJ, et al. Plasminogen activator inhibitor-1 4G/5G polymorphism, factor Ⅴ Leiden, prothrombin mutations and the risk of VTE recurrence. Thromb Haemost, 2015, 114(6): 1156-1164.
12. Lim MY, Deal AM, Kim S, et al. Thrombophilic risk of individuals with rare compound factor Ⅴ Leiden and prothrombin G20210A polymorphisms: an international case series of 100 individuals. Eur J Haematol, 2016, 97(4): 353-360.
13. van Stralen KJ, Doggen CJ, Bezemer ID, et al. Mechanisms of the factor Ⅴ Leiden paradox. Arterioscler Thromb Vasc Biol, 2008, 28(10): 1872-1877.
14. Desmarais S, de Moerloose P, Reber G, et al. Resistance to activated protein C in an unselected population of patients with pulmonary embolism. Lancet, 1996, 347(9012): 1374-1345.
15. Mäkelburg AB, Veeger NJ, Middeldorp S, et al. Different risk of deep vein thrombosis and pulmonary embolism in carriers with factor Ⅴ Leiden compared with non-carriers, but not in other thrombophilic defects. Results from a large retrospective family cohort study. Haematologica, 2010, 95(6): 1025-1028.
16. Hooper WC, De Staercke C. The relationship between FV Leiden and pulmonary embolism. Respir Res, 2002, 3(5), 8-10.
17. Martinelli I, Battaglioli T, Razzari C, et al. Type and location of venous thromboembolism in patients with factor Ⅴ Leiden or prothrombin G20210A and in those with no thrombophilia. Thromb Haemost, 2007, 5(1): 98-101.
18. Dentali F, Ageno W, Bozzato S, et al. Role of factor Ⅴ Leiden or G20210A prothrombin mutation in patients with symptomatic pulmonary embolism and deep vein thrombosis: a meta-analysis of the literature. J Thromb Haemost, 2012, 10(4): 732-737.
19. Ali N, Ayyub M. High prevalence of protein C, protein S, antithrombin deficiency, and Factor V Leiden mutation as a cause of hereditary thrombophilia in patients of venous thromboembolism and cerebrovascular accident. Pak J Med Sci, 2014, 30(6): 1323-1326.
20. Downs J. A patient with Factor V Leiden and a related pulmonary embolism. JAAPA, 2016, 29(2): 34-35.
21. White CW, Thomason AR. Recurrent venous thromboembolism in a patient with heterozygous factor Ⅴ leiden mutation. Hosp Pharm, 2014, 49(8): 748-751.
22. Sueta D, Ito M, Uchiba M, et al. A case of pulmonary thromboembolism due to coagulation factor Ⅴ Leiden in Japan--usefulness of next generation sequencing. Thromb J, 2017, 15(2): 8-12.
23. Manten B, Westendorp RGJ, Koster T, et al. Risk factor profiles in patients with different clinical manifestations of venous thromboembolism: a focus on the factor Ⅴ Leiden mutation. Thromb Haemost, 1996, 76(5): 10-13.
24. Martinelli I, Cattaneo M, Panzeri D, et al. Low prevalence of factor Ⅴ: Q506 in 41 patients with isolated pulmonary embolism. Thromb Haemost, 1997, 77(4): 40-43.
25. Baglin TP, Brown K, Williamson D, et al. Relative risk of pulmonary embolism and deep vein thrombosis in association with the factor Ⅴ Leiden mutation in a United Kingdom population. Thromb Haemost, 1997, 77(6): 1219.
26. Turkstra F, Karemaker R, Kuijer PMM, et al. Is the prevalence of the factor Ⅴ Leiden mutation in patients with pulmonary embolism and deep vein thrombosis really different? Thromb Haemost, 1999, 81(3): 45-48.
27. Campello E, Spiezia L, Dalla Valle F, et al. Factor V Leiden paradox and the occurrence of distal vein thrombosis in a large cohort of thrombotic patients. Thromb Res, 2017, 156(3): 20-22.
28. Saeed A, Sumreen null. To determine the frequency of Factor V Leiden in cases of deep vein thrombosis and healthy controls. Pak J Med Sci, 2015, 31(5): 1219-1222.
29. Corral J, Roldán V, Vicente V. Deep venous thrombosis or pulmonary embolism and factor Ⅴ Leiden: enigma or paradox. Haematologica, 2010, 95(6): 863-866.
30. Bounameaux H. Factor V Leiden paradox: risk of deep-vein thrombosis but not of pulmonary embolism. Lancet, 2000, 356(22): 182-183.
31. Bajzar L, Kalafatis M, Simioni P, et al. An antifibrinolytic mechanism describing the prothrombotic effect associated with factor Ⅴ Leiden. Biol Chem, 1996, 271(38): 22949-22952.
32. Parker AC, Mundada LV, Schmaier AH, et al. Factor V Leiden inhibits fibrinolysis in vivo. Circulation, 2004, 110(23): 3594-3598.
33. Van Cott EM, Khor B. Factor V Leiden Am J Hematol, 2016, 91(1): 46-49.
34. Castoldi E. FV and APC resistance: the plot thickens. Blood, 2014, 123(15): 2288-2289.
35. Huisman MV, Klok FA, Karami Djurabi R, et al. Factor V Leiden is associated with more distal location of deep vein thrombosis of the leg. J Thromb Haemost, 2008, 6(3): 544-545.
36. Schulman S. Thrombophilia and location of venous thromboembolism. Thromb Haemost, 2007, 5(10): 2151-2152.
37. Seinturier C, Bosson JL, Colonna M, et al. Site and clinical outcome of deep vein thrombosis of the lower limbs: an epidemiological study. J Thromb Haemost, 2005, 3(7): 1362-1367.
38. Cooley BC, Szema L, Chen CY, et al. A murine model of deep vein thrombosis: characterization and validation in transgenic mice. Thromb Haemost, 2005, 94(3): 498-503.
39. Cosmi B, Legnani C, Pengo V, et al. The influence of factor Ⅴ Leiden and G20210A prothrombin mutation on the presence of residual vein obstruction after idiopathic deep-vein thrombosis of the lower limbs. Thromb Haemost, 2013, 109(3): 510-516.
40. Burnett AE, Mahan CE, Vazquez SR, et al. Guidance for the practical management of the direct oral anticoagulants (DOACs) in VTE treatmentJ Thromb Thrombolysis, 2016, 41(1): 206-232.
41. van Langevelde K, Flinterman LE, van Hylckama Vlieg A, et al. Broadening the factor Ⅴ Leiden paradox: pulmonary embolism and deep-vein thrombosis as 2 sides of the spectrum. Blood, 2012, 120(5): 933-946.
42. Hirmerova J, Seidlerova J. The association of factor Ⅴ Leiden with various clinical patterns of venous thromboembolism-the factor Ⅴ Leiden paradox. QJM, 2014, 107(9): 715-720.
43. Agostini-Vulaj D, Francis CW. Management of concomitant factor ⅥI deficiency and Factor V Leiden mutation. Int J Lab Hematol, 2017, 39(1): e10-e13.
44. Tzoran I, Papadakis M, Brenner B, et al. Outcome of patients with venous thromboembolism and factor Ⅴ Leiden or prothrombin 20210 carrier mutations during the course of anticoagulation. Am J Med, 2017, 130(4): 482. e1-482.

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凝血因子Ⅴ Leiden 突变“悖论”的研究进展

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