Acta Med. 2023, 66: 19-23
https://doi.org/10.14712/18059694.2023.10
Antithrombin Deficiency: Frequency in Patients with Thrombosis and Thrombophilic Families
References
1. Int J Hematol 2017; 105(3): 287–94.
< A, Taniguchi F, Yamaguchi D, et al. Causative genetic mutations for antithrombin deficiency and their clinical background among Japanese patients. https://doi.org/10.1007/s12185-016-2142-8>
2. Thromb Diath Haemorrh 1965; 13: 516–30.
O. Inherited antithrombin deficiency causing thrombophilia.
3. Proc Natl Scad Sci 1993; USA 90: 1004–8.
< B, Carlsson M, Svensson PJ, et al. Familial thrombophilia due to a previously unrecognized mechanism characterized by poor anticoagulant response to activated protein C; prediction of a cofactor to activated protein C. https://doi.org/10.1073/pnas.90.3.1004>
<PubMed>
4. Nature 1994; 369: 64–7.
< RM, Koeleman BPC, Koster T, et al. Mutation in blood coagulation factor V associtated with resistance to activated protein C. https://doi.org/10.1038/369064a0>
5. Blood 1996; 88: 3698–703.
< SR, Rosendaal FR, Reitsma PH, et al. A common genetic variation in the 3′-untraslated region of the prothrombin gene is associated with elevated plasma prothrombin levels and an in venous thrombosis and an increase in venous thrombosis. https://doi.org/10.1182/blood.V88.10.3698.bloodjournal88103698>
6. Hematology Am Soc Hematol Educ Program 2016: 1–9.
S. Inherited thrombophilia: a double-edged sword.
7. Blood 2020; 135(5): 344–50.
< J, Bauer KA. Managing thromboembolic risk in patients with hereditary and acquired thrombophilias. https://doi.org/10.1182/blood.2019000917>
8. Blood 2009; 113(21): 5314–22.
< WM, Brouwer JL, Veeger NJ. Selective testing for thrombophilia in patients with first venous thrombosis: results from a retrospective family cohort study on absolute thrombotic risk for currently known thrombophilic defects in 2479 relatives. https://doi.org/10.1182/blood-2008-10-184879>
9. Semin Thromb Hemost 2018; 44(4): 315–26.
FN, Borjas-Howard J, Nasserinejad K, et al. Risk of Venous Thrombosis in Antithrombin Deficiency: A Systematic Review and Bayesian Meta-analysis.
10. Hereditary antithrombin deficiency – Genetics Home Reference – NIH. https://ghr.nlm.nih.gov/condition/hereditary-antithrombin -deficiency
11. Blood Coagulation & Fibrinolysis 2002; 13(6): 569–73.
< P, Malý J, Pešavová L, Pecka M. Prevalence of inherited thrombophilia in young thrombosis patients from the East Bohemian region. https://doi.org/10.1097/00001721-200209000-00013>
12. Clin Chem Lab Med 2019; 57(6): 873–82.
< EJ. Danger of false negative (exclusion) or false positive (diagnosis) for congenital thrombophilia in the age of anticoagulants. https://doi.org/10.1515/cclm-2018-1041>
13. J Thromb Haemost 2020; 18(1): 17–22.
< EM, Orlando C, Moore GW, et al. Recommendations for clinical laboratory testing for antithrombin deficiency; Communication from the SSC of the ISTH. Subcommittee on Plasma Coagulation Inhibitors. https://doi.org/10.1111/jth.14648>
14. Blood 2019; 134(26): 2346–53.
< I, Thaler J. How I treat patients with hereditary antithrombin deficiency. https://doi.org/10.1182/blood.2019002927>
15. J Thromb Haemost 2012; 10(7): 1297–302.
< F, Poli U, Scoditti U. Long term outcomes of patients with cerebral vein thrombosis: a multicenter study. https://doi.org/10.1111/j.1538-7836.2012.04774.x>
16. Front Neurol Neurosci 2008; 23: 55–76.
V, Agnelli G, Paciaroni M. Handbook on Cerebral Venous Thrombosis.
17. Liver Int 2020; 40(5): 1168–77.
< A, de la Morena-Barrio ME, Turon F, et al. Congenital antithrombin deficiency in patients with splanchnic vein thrombosis. https://doi.org/10.1111/liv.14342>
18. Blood 2015; 126(23): 2318.
< J, Marc Rodger M. Retrospective Cohort of Unprovoked Venous Thromboembolism Patients: What Proportion Have Potent Thrombophilias Necessitating Indefinite Anticoagulants? https://doi.org/10.1182/blood.V126.23.2318.2318>
19. J Thromb Haemost 2016; 14(7): 1393–403.
< EF, Wiewel-Verschueren S, Monster TB, et al. Oral contraceptives, thrombophilia and the risk of venous thromboembolism: a systematic review and meta-analysis. https://doi.org/10.1111/jth.13349>
20. Thromb Haemost 1999; 81: 198–202.
< P, Sanson BJ, Prandoni P, Tormene D, et al. Incidence ofvenous thromboembolism in families with inherited thrombophilia. https://doi.org/10.1055/s-0037-1614442>
21. Blood 2011; 118: 2055–61.
< EF, Veeger N, Middeldorp S, et al. Thrombotic risk during oral contraceptive use and pregnancy in women with factor V Leiden or prothrombin mutation: a rational approach to contraception. https://doi.org/10.1182/blood-2011-03-345678>
22. BMJ 2017; 359: j4452.
< FN, Nasserinejad K, Duvekot JJ, et al. Pregnancy, thrombophilia, and the risk of a first venous thrombosis: systematic review and bayesian meta-analysis. https://doi.org/10.1136/bmj.j4452>
<PubMed>
23. Lancet Haematol 2020; 7(4): e320–28.
< M, Gianniello F, Novembrino C, et al. Risk of pregnancy-related venous thromboembolism and obstetrical complications in women with inherited type I antithrombin deficiency: a retrospective, single-centre, cohort study. https://doi.org/10.1016/S2352-3026(20)30007-7>
24. Haematologica 2019; 104(12): 2512–18.
< B, Orlando C, de la Morena-Barrio ME, et al. Incidence and features of thrombosis in children with inherited antithrombin deficiency. https://doi.org/10.3324/haematol.2018.210666>
<PubMed>
25. Ann Hematom 2017; 96(6): 1023–31.
< J, Sunder-Plassmann R, Mannhalter C. Women with homozygous AT deficiency type II heparin-binding site (HBS) are at high risk of pregnancy loss and pregnancy complications. https://doi.org/10.1007/s00277-017-2965-2>
26. Thromb Res 2019; 173: 12–19.
< M, Mitic G, Mikovic Z. The influence of specific mutations in the AT gene (SERPINC1) on the type of pregnancy related complications. https://doi.org/10.1016/j.thromres.2018.11.006>