Present Status of Hereditary ThrombophiliaJIANG_CHINESE JOURNAL OF BASES AND CLINICS IN GENERAL SURGERY

Authors：

Xiaokui , GE Xiaohu

Department of Vascular Surgery, People’s Hospital of Xinjiang Urgur Autonomous Region, Urumqi 830000, China;

Corresponding author：

Keywords：

Thrombophilia; Genetic susceptibility; Blood coagulation factor; Genetic screening

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Objective To summarize the advancement of hereditary thrombophilia.
Methods Relevant literatures about hereditary thrombophilia published recently domestic and abroad were reviewed and analyzed.
Results The hereditary risk factors of venous thromboembolism were different among different races. In western population, the main risk factors were activated protein C resistance (APC-R) and mutation of factor V Leiden, methylene tetrahydrofolate reductase polymorphism (C677T) and prothrombin G20210A. While in Chinese population, the disorder of protein C system and hyperhomocysteinemia were the major genetic risk factor. The existence of multiple genetic risk factors increased the incidence of primary and recurrent venous thromboembolism.
Conclusion Further study on the relations between the hereditary risk factors and thrombophilia will be very important for prediction and prevention of the venous thromboembolism.

Citation： Xiaokui,GE Xiaohu. Present Status of Hereditary ThrombophiliaJIANG. CHINESE JOURNAL OF BASES AND CLINICS IN GENERAL SURGERY, 2010, 17(7): 686-689. doi: Copy

1.	Egeberg O. On the natural blood coagulation inhibitor system. Investigations of inhibitor factors based on antithrombin deficient blood [J]. Thromb Diath Haemorrh， 1965; 14(34): 473489.
2.	王鸿利. 血液学和血液学检验 [M]. 第2版. 北京: 人民卫生出版社, 1997: 292293.
3.	Tripodi A. A review of the clinical and diagnostic utility of laboratory tests for the detection of congenital thrombophilia [J]. Semin Thromb Hemost, 2005; 31(1): 2532.
4.	赵永强. 我国静脉血栓栓塞症的研究现状 [J]. 中华内科杂志, 2005; 44(2): 8384.
5.	Bertina RM, Koelemen BP, Koster T, et al. Mutation in blood coagulation factor Ⅴ ssociated with resistance to activated protein C [J]. Nature, 1994; 369(6475): 6467.
6.	Rees DC, Cox M, Clegg JB. World distribution of factor Ⅴ Leiden [J]. Lancet. 1995; 346(8983): 11331134.
7.	Nicolaes GA, Dahlbck B. Factor V and thrombotic disease: description of a janusfaced protein [J]. Arterioscler Thromb Vasc Biol, 2002; 22(4): 530538.
8.	Lucotte G, Mercier G. Population genetics of factor Ⅴ Leiden in Europe [J]. Blood Cells Mol Dis, 2001; 27(2): 362367.
9.	Lu Y, Zhao Y, Liu G, et al. Factor V gene G1691A mutation, prothrombin gene G20210A mutation, and MTHFR gene C677T mutation are not risk factors for pulmonary thromboembolism in Chinese population [J]. Thromb Res, 2002; 106(1): 712.
10.	Jun ZJ , Ping T, Lei Y, et al. Prevalence of factor Ⅴ Leiden and prothrombin G20210A mutations in Chinese patients with deep venous thrombosis and pulmonary embolism [J]. Clin Lab Haematol, 2006; 28(2): 111116.
11.	Almawi WY, Tamim H, Kreidy R, et al. A case control study on the contribution of factor ⅤLeiden, prothrombin G20210A, and MTHFR C677T mutations to the genetic susceptibility of deep venous thrombosis [J]. J Thromb Thrombolysis, 2005; 19(3): 189196.
12.	Heit JA, Sobell JL, Li H, et al. The incidence of venous thromboembolism among factor Ⅴ Leiden carriers: a communitybased cohort study [J]. J Thromb Haemost, 2005; 3(2): 305311.
13.	Oger E, Lacut K, Le Gal G, et al. Is APC resistance a risk factor for venous thromboembolism in patients over 70 years? [J]. Thromb Haemost, 2002; 88(4): 587591.
14.	贺立山. 血液病家族新成员-易栓症 [J]. 医学新知杂志, 2008; 18(3): 129133.
15.	Bauer KA. The thrombophilias: welldefined risk factors with uncertain therapeutic implications [J]. Ann Intern Med 2001; 135(5): 367373.
16.	Crowther MA, Kelton JG. Congenital thrombophilic states associated with venous thrombosis: a qualitative overview and proposed classification system [J]. Ann Intern Med 2003; 138(2): 128134.
17.	Simioni P, Tormene D, Spiezia L, et al. Inherited thrombophilia and venous thromboembolism [J]. Semin Thromb Hemost, 2006; 32(7): 700708.
18.	NizankowskaMogilnicka E, Adamek L, Grzanka P, et al. Genetic polymorphisms associated with acute pulmonary embolism and deep venous thrombosis [J]. Eur Respir J, 2003; 21(1): 2530.
19.	De Stefano V, Rossi E, Paciaroni K, et al. Different circumstances of the first venous thromboembolism among younger or older heterozygous carriers of the G20210A polymorphism in the prothrombin gene [J]. Haematologica, 2003; 88(1): 6166.
20.	Emmerich J, Rosendaal FR, Cattaneo M, et al. Combined effect of factor Ⅴ Leiden and prothrombin 20210A on the risk of venous thromboembolism-pooled analysis of 8 casecontrol studies including 2 310 cases and 3 204 controls. Study Group for PooledAnalysis in Venous Thromboembolism [J]. Thromb Haemost, 2001; 86(3): 809816.
21.	Varga EA, Moll S. Cardiology patient pages. Prothrombin 20210 mutation (factor Ⅱ mutation) [J]. Circulation, 2004;110(3): e15e18.
22.	Griffin JH, Evatt B, Zimmerman TS, et al. Deficiency of protein C in congenital thrombotic disease [J]. J Clin Invest, 1981; 68(5): 13701373.
23.	刘丽, 郭文茹, 贺立山, 等. 遗传性蛋白C缺陷症家系的一个基因突变 [J]. 中华血液学杂志, 2003; 24(3): 115118.
24.	刘丽, 贺立山, 杨爽, 等. 遗传性蛋白S缺陷症一个新的基因突变 [J]. 中华血液学杂志, 2001; 22(9): 457460.
25.	Kallel L, Matri S, Karoui S, et al. Deep venous thrombosis related to protein S deficiency revealing celiac disease [J]. Am J Gastroenterol, 2009; 104(1): 256257.
26.	Tait RC, Walker ID, Reitsma PH, et al. Prevalence of protein C deficiency in the healthy population [J]. Thromb Haemost, 1995; 73(1): 8793.
27.	Tait RC, Walker ID, Perry DJ, et al. Prevalence of antithrombin deficiency in the healthy population [J]. Br J Haematol, 1994; 87(1): 106112.
28.	McColl M, Tait RC, Walker ID, et al. Low thrombosis rate seen in blood donors and their relatives with inherited deficiencies of antithrombin and protein C: correlation with type of defect, family history, and absence of the factor Ⅴ Leiden mutation [J]. Blood Coagul Fibrinolysis, 1996; 7(7): 689694.
29.	Rosendaal FR. Risk factors for venous thrombotic disease [J]. Thromb Haemost, 1999; 82(2): 610619.
30.	臧凡, 赵永桔, 吴方. 静脉血栓栓塞症的遗传易感性及其基因筛查 [J]. 国际内科学杂志, 2007; 34(11): 673675.
31.	Chen TY, Su WC, Tsao CJ. Incidence of thrombophilia detected in southern Taiwanese patients with venous thrombosis [J]. Ann Hematol, 2003; 82(2): 114117.
32.	Undas A, Brozek J, Szczeklik A. Homocysteine and thrombosis: from basic science to clinical evidence [J]. Thromb Haemost, 2005; 94(5): 907915.
33.	Fermo I, Vigano’ D’Angelo S, Paroni R, et al. Prevalence of moderate hyperhomocysteinemia in patients with earlyonset venous and arterial occlusive disease [J]. Ann Intern Med, 1995; 123(10): 747753.
34.	Den Heijer M, Koster T, Blom HJ, et al. Hyperhomocysteinemia as a risk factor for deepvein thrombosis [J]. N Engl J Med, 1996; 334(12): 759762.
35.	Simioni P, Prandoni P, Burlina A, et al. Hyperhomocysteinemia and deepvein thrombosis: a casecontrol study [J]. Thromb Haemost, 1996; 76(6): 883886.
36.	赵永强. 易栓症研究概况 [J]. 中国实用内科杂志, 2007; 27(1): 4952.
37.	Den Heijer M, Lewington S, Clarke R. Homocysteine, MTHFR and risk of venous thrombosis: a metaanalysis of published epidemiological studies [J]. J Thromb Haemost, 2005; 3(2): 292299.
38.	Oger E, Lacut K, Le Gal G, et al. Hyperhomocysteinemia and low B vitamin levels are independently associated with venous thromboembolism: results from the EDITH study: a hospitalbased casecontrol study [J]. J Thromb Haemost, 2006; 4(4): 793799.
39.	Beutler E, Lichtman MA, Coller BS, et al. Willianms Hematology [M]. 6th edition. New York: McGrawHill, 2001: 16971707.

1. Egeberg O. On the natural blood coagulation inhibitor system. Investigations of inhibitor factors based on antithrombin deficient blood [J]. Thromb Diath Haemorrh， 1965; 14(34): 473489.
2. 王鸿利. 血液学和血液学检验 [M]. 第2版. 北京: 人民卫生出版社, 1997: 292293.
3. Tripodi A. A review of the clinical and diagnostic utility of laboratory tests for the detection of congenital thrombophilia [J]. Semin Thromb Hemost, 2005; 31(1): 2532.
4. 赵永强. 我国静脉血栓栓塞症的研究现状 [J]. 中华内科杂志, 2005; 44(2): 8384.
5. Bertina RM, Koelemen BP, Koster T, et al. Mutation in blood coagulation factor Ⅴ ssociated with resistance to activated protein C [J]. Nature, 1994; 369(6475): 6467.
6. Rees DC, Cox M, Clegg JB. World distribution of factor Ⅴ Leiden [J]. Lancet. 1995; 346(8983): 11331134.
7. Nicolaes GA, Dahlbck B. Factor V and thrombotic disease: description of a janusfaced protein [J]. Arterioscler Thromb Vasc Biol, 2002; 22(4): 530538.
8. Lucotte G, Mercier G. Population genetics of factor Ⅴ Leiden in Europe [J]. Blood Cells Mol Dis, 2001; 27(2): 362367.
9. Lu Y, Zhao Y, Liu G, et al. Factor V gene G1691A mutation, prothrombin gene G20210A mutation, and MTHFR gene C677T mutation are not risk factors for pulmonary thromboembolism in Chinese population [J]. Thromb Res, 2002; 106(1): 712.
10. Jun ZJ , Ping T, Lei Y, et al. Prevalence of factor Ⅴ Leiden and prothrombin G20210A mutations in Chinese patients with deep venous thrombosis and pulmonary embolism [J]. Clin Lab Haematol, 2006; 28(2): 111116.
11. Almawi WY, Tamim H, Kreidy R, et al. A case control study on the contribution of factor ⅤLeiden, prothrombin G20210A, and MTHFR C677T mutations to the genetic susceptibility of deep venous thrombosis [J]. J Thromb Thrombolysis, 2005; 19(3): 189196.
12. Heit JA, Sobell JL, Li H, et al. The incidence of venous thromboembolism among factor Ⅴ Leiden carriers: a communitybased cohort study [J]. J Thromb Haemost, 2005; 3(2): 305311.
13. Oger E, Lacut K, Le Gal G, et al. Is APC resistance a risk factor for venous thromboembolism in patients over 70 years? [J]. Thromb Haemost, 2002; 88(4): 587591.
14. 贺立山. 血液病家族新成员-易栓症 [J]. 医学新知杂志, 2008; 18(3): 129133.
15. Bauer KA. The thrombophilias: welldefined risk factors with uncertain therapeutic implications [J]. Ann Intern Med 2001; 135(5): 367373.
16. Crowther MA, Kelton JG. Congenital thrombophilic states associated with venous thrombosis: a qualitative overview and proposed classification system [J]. Ann Intern Med 2003; 138(2): 128134.
17. Simioni P, Tormene D, Spiezia L, et al. Inherited thrombophilia and venous thromboembolism [J]. Semin Thromb Hemost, 2006; 32(7): 700708.
18. NizankowskaMogilnicka E, Adamek L, Grzanka P, et al. Genetic polymorphisms associated with acute pulmonary embolism and deep venous thrombosis [J]. Eur Respir J, 2003; 21(1): 2530.
19. De Stefano V, Rossi E, Paciaroni K, et al. Different circumstances of the first venous thromboembolism among younger or older heterozygous carriers of the G20210A polymorphism in the prothrombin gene [J]. Haematologica, 2003; 88(1): 6166.
20. Emmerich J, Rosendaal FR, Cattaneo M, et al. Combined effect of factor Ⅴ Leiden and prothrombin 20210A on the risk of venous thromboembolism-pooled analysis of 8 casecontrol studies including 2 310 cases and 3 204 controls. Study Group for PooledAnalysis in Venous Thromboembolism [J]. Thromb Haemost, 2001; 86(3): 809816.
21. Varga EA, Moll S. Cardiology patient pages. Prothrombin 20210 mutation (factor Ⅱ mutation) [J]. Circulation, 2004;110(3): e15e18.
22. Griffin JH, Evatt B, Zimmerman TS, et al. Deficiency of protein C in congenital thrombotic disease [J]. J Clin Invest, 1981; 68(5): 13701373.
23. 刘丽, 郭文茹, 贺立山, 等. 遗传性蛋白C缺陷症家系的一个基因突变 [J]. 中华血液学杂志, 2003; 24(3): 115118.
24. 刘丽, 贺立山, 杨爽, 等. 遗传性蛋白S缺陷症一个新的基因突变 [J]. 中华血液学杂志, 2001; 22(9): 457460.
25. Kallel L, Matri S, Karoui S, et al. Deep venous thrombosis related to protein S deficiency revealing celiac disease [J]. Am J Gastroenterol, 2009; 104(1): 256257.
26. Tait RC, Walker ID, Reitsma PH, et al. Prevalence of protein C deficiency in the healthy population [J]. Thromb Haemost, 1995; 73(1): 8793.
27. Tait RC, Walker ID, Perry DJ, et al. Prevalence of antithrombin deficiency in the healthy population [J]. Br J Haematol, 1994; 87(1): 106112.
28. McColl M, Tait RC, Walker ID, et al. Low thrombosis rate seen in blood donors and their relatives with inherited deficiencies of antithrombin and protein C: correlation with type of defect, family history, and absence of the factor Ⅴ Leiden mutation [J]. Blood Coagul Fibrinolysis, 1996; 7(7): 689694.
29. Rosendaal FR. Risk factors for venous thrombotic disease [J]. Thromb Haemost, 1999; 82(2): 610619.
30. 臧凡, 赵永桔, 吴方. 静脉血栓栓塞症的遗传易感性及其基因筛查 [J]. 国际内科学杂志, 2007; 34(11): 673675.
31. Chen TY, Su WC, Tsao CJ. Incidence of thrombophilia detected in southern Taiwanese patients with venous thrombosis [J]. Ann Hematol, 2003; 82(2): 114117.
32. Undas A, Brozek J, Szczeklik A. Homocysteine and thrombosis: from basic science to clinical evidence [J]. Thromb Haemost, 2005; 94(5): 907915.
33. Fermo I, Vigano’ D’Angelo S, Paroni R, et al. Prevalence of moderate hyperhomocysteinemia in patients with earlyonset venous and arterial occlusive disease [J]. Ann Intern Med, 1995; 123(10): 747753.
34. Den Heijer M, Koster T, Blom HJ, et al. Hyperhomocysteinemia as a risk factor for deepvein thrombosis [J]. N Engl J Med, 1996; 334(12): 759762.
35. Simioni P, Prandoni P, Burlina A, et al. Hyperhomocysteinemia and deepvein thrombosis: a casecontrol study [J]. Thromb Haemost, 1996; 76(6): 883886.
36. 赵永强. 易栓症研究概况 [J]. 中国实用内科杂志, 2007; 27(1): 4952.
37. Den Heijer M, Lewington S, Clarke R. Homocysteine, MTHFR and risk of venous thrombosis: a metaanalysis of published epidemiological studies [J]. J Thromb Haemost, 2005; 3(2): 292299.
38. Oger E, Lacut K, Le Gal G, et al. Hyperhomocysteinemia and low B vitamin levels are independently associated with venous thromboembolism: results from the EDITH study: a hospitalbased casecontrol study [J]. J Thromb Haemost, 2006; 4(4): 793799.
39. Beutler E, Lichtman MA, Coller BS, et al. Willianms Hematology [M]. 6th edition. New York: McGrawHill, 2001: 16971707.

CHINESE JOURNAL OF BASES AND CLINICS IN GENERAL SURGERY

Present Status of Hereditary ThrombophiliaJIANG

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