Acta Med. 2023, 66: 19-23

https://doi.org/10.14712/18059694.2023.10

Antithrombin Deficiency: Frequency in Patients with Thrombosis and Thrombophilic Families

Maria Anna Pejkováa, Eva Ivanováa, Petr Sadíleka, Radovan Malýb, Zuzana Thibauda, Petr Dulíčeka

a4th Department of Internal Medicine – Hematology, Faculty Hospital, Charles University, Faculty of Medicine in Hradec Králové, Hradec Králové; Czech Republic
b1th Department of Internal Medicine – Cardiology, Faculty Hospital, Faculty of Medicine in Hradec Králové, Charles University, Hradec Králové, Czech Republic

Received January 7, 2023
Accepted May 10, 2023

References

1. Sekiya A, Taniguchi F, Yamaguchi D, et al. Causative genetic mutations for antithrombin deficiency and their clinical background among Japanese patients. Int J Hematol 2017; 105(3): 287–94. <https://doi.org/10.1007/s12185-016-2142-8>
2. Egeberg O. Inherited antithrombin deficiency causing thrombophilia. Thromb Diath Haemorrh 1965; 13: 516–30.
3. Dahlbäck 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. Proc Natl Scad Sci 1993; USA 90: 1004–8. <https://doi.org/10.1073/pnas.90.3.1004> <PubMed>
4. Bertina RM, Koeleman BPC, Koster T, et al. Mutation in blood coagulation factor V associtated with resistance to activated protein C. Nature 1994; 369: 64–7. <https://doi.org/10.1038/369064a0>
5. Poort 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. Blood 1996; 88: 3698–703. <https://doi.org/10.1182/blood.V88.10.3698.bloodjournal88103698>
6. Middeldorp S. Inherited thrombophilia: a double-edged sword. Hematology Am Soc Hematol Educ Program 2016: 1–9.
7. Moran J, Bauer KA. Managing thromboembolic risk in patients with hereditary and acquired thrombophilias. Blood 2020; 135(5): 344–50. <https://doi.org/10.1182/blood.2019000917>
8. Lijfering 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. Blood 2009; 113(21): 5314–22. <https://doi.org/10.1182/blood-2008-10-184879>
9. Croles FN, Borjas-Howard J, Nasserinejad K, et al. Risk of Venous Thrombosis in Antithrombin Deficiency: A Systematic Review and Bayesian Meta-analysis. Semin Thromb Hemost 2018; 44(4): 315–26.
10. Hereditary antithrombin deficiency – Genetics Home Reference – NIH. https://ghr.nlm.nih.gov/condition/hereditary-antithrombin -deficiency
11. Dulíček P, Malý J, Pešavová L, Pecka M. Prevalence of inherited thrombophilia in young thrombosis patients from the East Bohemian region. Blood Coagulation & Fibrinolysis 2002; 13(6): 569–73. <https://doi.org/10.1097/00001721-200209000-00013>
12. Favaloro EJ. Danger of false negative (exclusion) or false positive (diagnosis) for congenital thrombophilia in the age of anticoagulants. Clin Chem Lab Med 2019; 57(6): 873–82. <https://doi.org/10.1515/cclm-2018-1041>
13. Van Cott 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. J Thromb Haemost 2020; 18(1): 17–22. <https://doi.org/10.1111/jth.14648>
14. Pabinger I, Thaler J. How I treat patients with hereditary antithrombin deficiency. Blood 2019; 134(26): 2346–53. <https://doi.org/10.1182/blood.2019002927>
15. Denatli F, Poli U, Scoditti U. Long term outcomes of patients with cerebral vein thrombosis: a multicenter study. J Thromb Haemost 2012; 10(7): 1297–302. <https://doi.org/10.1111/j.1538-7836.2012.04774.x>
16. Caso V, Agnelli G, Paciaroni M. Handbook on Cerebral Venous Thrombosis. Front Neurol Neurosci 2008; 23: 55–76.
17. Baiges A, de la Morena-Barrio ME, Turon F, et al. Congenital antithrombin deficiency in patients with splanchnic vein thrombosis. Liver Int 2020; 40(5): 1168–77. <https://doi.org/10.1111/liv.14342>
18. Park J, Marc Rodger M. Retrospective Cohort of Unprovoked Venous Thromboembolism Patients: What Proportion Have Potent Thrombophilias Necessitating Indefinite Anticoagulants? Blood 2015; 126(23): 2318. <https://doi.org/10.1182/blood.V126.23.2318.2318>
19. van Vlijmen EF, Wiewel-Verschueren S, Monster TB, et al. Oral contraceptives, thrombophilia and the risk of venous thromboembolism: a systematic review and meta-analysis. J Thromb Haemost 2016; 14(7): 1393–403. <https://doi.org/10.1111/jth.13349>
20. Simioni P, Sanson BJ, Prandoni P, Tormene D, et al. Incidence ofvenous thromboembolism in families with inherited thrombophilia. Thromb Haemost 1999; 81: 198–202. <https://doi.org/10.1055/s-0037-1614442>
21. van Vlijmen 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. Blood 2011; 118: 2055–61. <https://doi.org/10.1182/blood-2011-03-345678>
22. Croles FN, Nasserinejad K, Duvekot JJ, et al. Pregnancy, thrombophilia, and the risk of a first venous thrombosis: systematic review and bayesian meta-analysis. BMJ 2017; 359: j4452. <https://doi.org/10.1136/bmj.j4452> <PubMed>
23. Abbattista 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. Lancet Haematol 2020; 7(4): e320–28. <https://doi.org/10.1016/S2352-3026(20)30007-7>
24. de la Morena-Barrio B, Orlando C, de la Morena-Barrio ME, et al. Incidence and features of thrombosis in children with inherited antithrombin deficiency. Haematologica 2019; 104(12): 2512–18. <https://doi.org/10.3324/haematol.2018.210666> <PubMed>
25. Kraft 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. Ann Hematom 2017; 96(6): 1023–31. <https://doi.org/10.1007/s00277-017-2965-2>
26. Kovac M, Mitic G, Mikovic Z. The influence of specific mutations in the AT gene (SERPINC1) on the type of pregnancy related complications. Thromb Res 2019; 173: 12–19. <https://doi.org/10.1016/j.thromres.2018.11.006>
front cover

ISSN 1211-4286 (Print) ISSN 1805-9694 (Online)

Open access journal

Archive