Congenital Thrombophilia in East-Asian Venous Thromboembolism Population: a Systematic Review and Meta-analysis

Overview

Journal Res Pract Thromb Haemost

Publisher Elsevier

Date 2023 Sep 7

PMID 37674867

Authors

Xi-Jie Zhu

Zi-Yi Liu

Pei-Wen Wang

Jia Wang

Shi-Di Wen

Jie-Xin Zhang

Yong-Jian Zhu

Ming-Li Sun

Xi-Qi Xu

Kai Sun

Tian-Yu Lian

Chun-Yan Cheng

Zhi-Cheng Jing

Affiliations

Soon will be listed here.

Abstract

Background: Various inherited traits contribute to the overall risk of venous thromboembolism (VTE). In addition, the epidemiology of thrombophilia in the East-Asian VTE population remains unclear; thus, we aimed to assess the proportion of hereditary thrombophilia via a meta-analysis.

Methods: Publications from PubMed, EMBASE, web of science, and Cochrane before December 30, 2022, were searched. Studies from Japan, Korea, China, Hong Kong, Taiwan, Singapore, Thailand, Vietnam, Myanmar, and Cambodia were included. Congenital thrombophilia was described as diseases including protein C (PC) deficiency, protein S (PS) deficiency, antithrombin (AT) deficiency, factor (F)V Leiden (FVL), and prothrombin G20210A mutations. Studies were selected by 2 reviewers for methodological quality analysis. A random-effects model was used for the meta-analysis, assuming that estimated effects in the different studies are not identical.

Results: Forty-four studies involving 6453 patients from 7 counties/regions were included in the meta-analysis. The prevalence of PC, PS, and AT deficiencies were 7.1%, 8.3%, and 3.8%, respectively. Among 2924 patients from 22 studies, 5 patients were carriers of FVL mutation. Among 2196 patients from 10 studies, 2 patients were carriers of prothrombin G20210A mutation in a Thailand study.

Conclusion: The prevalence of PC, PS, and AT deficiencies was relatively high, while a much lower prevalence of FVL and prothrombin G20210A mutations were identified in East-Asian patients with VTE. Our data stress the relative higher prevalence of PC, PS, and AT deficiencies for thrombophilia in the East-Asian VTE population.

Citing Articles

Comparison of natural anticoagulant deficiency in cerebral venous thrombosis with deep venous thrombosis.

Tran S, Vu M, Nguyen T, Nguyen T, Pham P, Hoang T Med Int (Lond). 2025; 5(2):19.

PMID: 39990725 PMC: 11843084. DOI: 10.3892/mi.2025.218.

Efficacy and Safety of Direct Oral Anticoagulants After Mechanical Thrombectomy in Venous Thromboembolism: A Comparative Study of 55 Patients.

Lee W, Hong C, Chang W, Liao C, Huang P, Huang S Med Sci Monit. 2024; 30:e946362.

PMID: 39582187 PMC: 11606605. DOI: 10.12659/MSM.946362.

Genetic factors, risk prediction and AI application of thrombotic diseases.

Wang R, Tang L, Hu Y Exp Hematol Oncol. 2024; 13(1):89.

PMID: 39192370 PMC: 11348605. DOI: 10.1186/s40164-024-00555-x.

Genetic risk stratification of inflammatory bowel disease-associated venous thromboembolism: An Asian perspective.

Huang J World J Gastroenterol. 2024; 30(9):1250-1252.

PMID: 38577175 PMC: 10989499. DOI: 10.3748/wjg.v30.i9.1250.

Safety and efficacy of extended thrombophilia screening directed venous thromboembolic events (VTE) prophylaxis in live liver donors: do we really need extended thrombophilia screening routinely?.

Dogar A, Hussain A, Ullah K, Shams-Ud-Din , Ghaffar A, Abbasher Hussien Mohamed Ahmed K Ann Med Surg (Lond). 2024; 86(3):1297-1303.

PMID: 38463105 PMC: 10923369. DOI: 10.1097/MS9.0000000000001772.

References

Lane D, Kunz G, Olds R, Thein S . Molecular genetics of antithrombin deficiency. Blood Rev. 1996; 10(2):59-74. DOI: 10.1016/s0268-960x(96)90034-x. View

Satpanich P, Rojnuckarin P . Risk factors for venous thromboembolism (VTE) recurrences in Thai patients without cancer. Hematology. 2018; 24(1):159-165. DOI: 10.1080/10245332.2018.1535535. View

Lu Y, Zhao Y, Liu G, Wang X, Liu Z, Chen B . Factor V gene G1691A mutation, prothrombin gene G20210A mutation, and MTHFR gene C677T mutation are not risk factors for pulmonary thromboembolism in Chinese population. Thromb Res. 2002; 106(1):7-12. DOI: 10.1016/s0049-3848(02)00064-6. View

Gao L, Ding Q, Wu K, Hu J, Wang X, Dong C . [Correlation of Thrombosis and Prothrombotic State with Coagulation Factor V Gene Polymorphism and APCR. HHcy]. Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2016; 24(6):1850-1855. DOI: 10.7534/j.issn.1009-2137.2016.06.043. View

Huh S, Kim D, Kim E, Lee B, Moon J, Joh J . Clinical and functional assessment after anticoagulant therapy of acute deep vein thrombosis involving the lower limb. Yonsei Med J. 2003; 44(4):686-93. DOI: 10.3349/ymj.2003.44.4.686. View

Ishiguro A, Ezinne C, Michihata N, Nakadate H, Manabe A, Taki M . Pediatric thromboembolism: a national survey in Japan. Int J Hematol. 2016; 105(1):52-58. DOI: 10.1007/s12185-016-2079-y. View

Kodaira H, Ishida F, Shimodaira S, Takamiya O, Furihata K, Kitano K . Resistance to activated protein C and Arg 506 Gln factor V mutation are uncommon in eastern Asian populations. Acta Haematol. 1997; 98(1):22-5. DOI: 10.1159/000203548. View

Ho C, Chau W, Hsu H, Gau J, Yu T . Causes of venous thrombosis in fifty Chinese patients. Am J Hematol. 2000; 63(2):74-8. DOI: 10.1002/(sici)1096-8652(200002)63:2<74::aid-ajh3>3.0.co;2-v. View

Zhang G, Tang Y, Tang M, Qing Z, Shu C, Tang X . Antithrombin Cambridge II(A384S) mutation frequency and antithrombin activity levels in 120 of deep venous thrombosis and 150 of cerebral infarction patients in a single center in Southern China. Blood Coagul Fibrinolysis. 2010; 21(6):588-91. DOI: 10.1097/MBC.0b013e32833dbe68. View

10.

Naess I, Christiansen S, Romundstad P, Cannegieter S, Rosendaal F, Hammerstrom J . Incidence and mortality of venous thrombosis: a population-based study. J Thromb Haemost. 2007; 5(4):692-9. DOI: 10.1111/j.1538-7836.2007.02450.x. View

11.

Lian T, Lu D, Yan X, Tan J, Peng F, Zhu Y . Association between congenital thrombophilia and outcomes in pulmonary embolism patients. Blood Adv. 2020; 4(23):5958-5965. PMC: 7724918. DOI: 10.1182/bloodadvances.2020002955. View

12.

Nicolaides A, Breddin H, Carpenter P, Coccheri S, Conard J, De Stefano V . Thrombophilia and venous thromboembolism. International consensus statement. Guidelines according to scientific evidence. Int Angiol. 2005; 24(1):1-26. View

13.

Tsuda H, Hattori S, Tanabe S, Iida H, Nakahara M, Nishioka S . Screening for aetiology of thrombophilia: a high prevalence of protein S abnormality. Ann Clin Biochem. 1999; 36 ( Pt 4):423-32. DOI: 10.1177/000456329903600404. View

14.

Kim T, Kim W, Lee J, Kim S, Kim S, Suh C . Low prevalence of activated protein C resistance and coagulation factor V Arg506 to Gln mutation among Korean patients with deep vein thrombosis. J Korean Med Sci. 1999; 13(6):587-90. PMC: 3054550. DOI: 10.3346/jkms.1998.13.6.587. View

15.

Ikejiri M, Wada H, Yamada N, Nakamura M, Fujimoto N, Nakatani K . High prevalence of congenital thrombophilia in patients with pregnancy-related or idiopathic venous thromboembolism/pulmonary embolism. Int J Hematol. 2016; 105(3):272-279. DOI: 10.1007/s12185-016-2111-2. View

16.

Angchaisuksiri P, Atichartakarn V, Aryurachai K, Archararit N, Rachakom B, Atamasirikul K . Risk factors of venous thromboembolism in thai patients. Int J Hematol. 2008; 86(5):397-402. DOI: 10.1007/BF02983995. View

17.

Gu Y, Shen W, Zhang L, Zhang J, Ying C . Deficiency of antithrombin and protein C gene in 202 Chinese venous thromboembolism patients. Int J Lab Hematol. 2013; 36(2):151-5. DOI: 10.1111/ijlh.12146. View

18.

MacCallum P, Bowles L, Keeling D . Diagnosis and management of heritable thrombophilias. BMJ. 2014; 349:g4387. DOI: 10.1136/bmj.g4387. View

19.

Chotanaphuti T, Ongnamthip P, Silpipat S, Foojareonyos T, Roschan S, Reumthantong A . The prevalence of thrombophilia and venous thromboembolism in total knee arthroplasty. J Med Assoc Thai. 2007; 90(7):1342-7. View

20.

Ho C, Chau W, Hsu H, Gau J, Chih C . Prevalence of factor V Leiden in the Chinese population. Zhonghua Yi Xue Za Zhi (Taipei). 2000; 62(12):875-8. View