Thrombophilia
Authors:
Ladislava Čingerová; Marta Kučeráková
Authors‘ workplace:
Hematologické oddelenie FNsP, Žilina, Slovenská republika
Published in:
Vnitř Lék 2016; 62(12): 985-989
Category:
Reviews
Overview
Thrombophilia is a risk factor for thrombosis. The hematologists have come under pressure to initiate thrombophilia testing on an increasing number of patients. This article summarized practical aspects, with focus on whom to test, why to test, what to test, what not to test and clinical management consequences for individuals having been identified with a thrombophilia.
Key words:
thrombophilia – thrombosis
Sources
1. Egeberg O. Inherited antithrombin III deficiency causing thrombophilia. Thromb Diath Haemorrh 1965; 13: 516–530.
2. Lane DA, Olds RJ, Boisclair M et al. Antithrombin III mutation database: first update. Thromb Haemost 1993; 70(2): 361–369.
3. Reitsma PH, Bernadi F, Doig RG et al. Protein C deficiency: A database of mutations 1995 update. Thromb Haemost 1995; 73(5): 876–889.
4. Aiach M, Gandrille S, Emmerich J. A review of mutations causing deficiencies of antithrombin, protein C and protein S. Thromb Haemost 1995; 74(1): 81–89.
5. Borgel D, Duchemin J, Matheron C et al. Molecular defects responsible for type I and IIa protein-S (PS) deficiencies in a panel of 120 French families. Thromb Haemost 1995; 73(6): 1256.
6. Dahlbäck B, Carlsson M, Svensson PJ. 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 Nat Acad Sc USA 1993; 90(3): 1004–1008.
7. Bertina RM, Koeleman BP, Koster T et al. Mutation in blood coagulation factor V associated with resistance to activated protein C. Nature 1994; 369(6475): 64–67.
8. Rosendaal FR, Koster T, Vandebroucke JP et al. High risk of thrombosis in patients homozygous for factor V Leiden (activated protein C resistance). Blood 1995; 85(6): 1504–1508.
9. Vooberg J, Roelse J, Koopman R et al. Association of idiopathic venous thrombembolism with single point-mutation at Arg506 of factor V. Lancet 1994; 343(8912): 1535–1536.
10. Kubisz P, Staško J, Dobrotová M et al. Hematológia a transfuziológia. Grada: Praha 2006. ISBN 80–247–1779–4. ISBN 80–8090–000–0.
11. Kvasnička J. Doporučený postup pro indikaci molekulárně genetických vyšetření v rámci diagnostiky trombofilních stavů v žilním systému. Vnitř Lék 2010; 56(12): 1251.
12. Dulíček P. Trombofilní stavy. Vnitř Lék 2005; 51(7–8): 819–825.
13. Piťha J, Auzký O, Roztočil K. Co mají společného žilní a tepenná onemocnění? Vnitř Lék 2014; 60(11): 985–989.
14. Dulíček P, Vodičková L, Malý J et al. ,,Nejasná” příčina vzniku a recidivy venózního tromboembolizmu. Vnitř Lék 2006; 52(1): 87–88.
15. Sokol J, Biringer K, Skerenova M et al. Platelet aggregation abnormalities in patients with fetal losses: the GP6 gene polymorphism. Fertil Steril 2012; 98(5): 1170–1174. Dostupné z DOI: <http://dx.doi.org/10.1016/j.fertnstert.2012.07.1108>.
16. Sokol J, Biringer K, Skerenova M et al. Different models of inheritance in selected genes in patients with sticky platelet syndrome and fetal loss. Semin Thromb Hemost 2015; 41(3): 330–335. Dostupné z DOI: <http://dx.doi.org/10.1055/s-0034–1395351>.
17. Sokol J, Biringer K, Skerenova M et al. Activity of coagulation factor XI in patients with spontaneous miscarriage: The presence of risk alleles. J Obstet Gynaecol 2015; 35(6): 621–624. Dostupné z DOI: <http://dx.doi.org/10.3109/01443615.2014.991284>.
18. Simonova R, Bartosova L, Chudy P et al. Nine kindreds of familial sticky platelet syndrome phenotype. Clin Appl Thromb Hemost 2013; 19(4): 395–401. Dostupné z DOI: <http://dx.doi.org/10.1177/1076029612439340>.
19. Sokol J, Skerenova M, Biringer K et al. Genetic variations of the GP6 regulatory region in patients with sticky platelet syndrome and miscarriage. Expert Rev Hematol 2015; 8(6): 863–868. Dostupné z DOI: <http://dx.doi.org/10.1586/17474086.2015.1083417>.
20. Moll S. Thrombophilia: a clinical-practical aspects. J Thromb Thrombolysis 2015; 39(3): 367–378. Dostupné z DOI: <http://dx.doi.org/10.1007/s11239–015–1197–3>.
21. Lijfering WM, Brouwer JL, Veeger NJ et al. Selectivetesting 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): 5314–5322. Dostupné z DOI: <http://dx.doi.org/10.1182/blood-2008–10–184879>.
22. Lijfering WM, Middeldorp S, Veeger NJ et al. Risk of recurrent venous thrombosis in homozygous carriers and double heterozygous carriers of factor V Leiden and prothrombin G20210A. Circulation 2010; 121(15): 1706–1712. Dostupné z DOI: <http://dx.doi.org/10.1161/CIRCULATIONAHA.109.906347>.
23. Segal JB, Brotman DJ, Necochea AJ et al. Predictive value of factor V Leiden and prothrombin G20210A in adults with venous thromboembolism and in family members of those with a mutation: a systematic review. JAMA 2009; 301(23): 2472–2485. Dostupné z DOI: <http://dx.doi.org/10.1001/jama.2009.853>.
24. Juul K, Tybjaerg-Hansen A, Schnohr P et al. Factor V Leiden and the risk for venous thromboembolism in the adult Danish population. Ann Intern Med 2004; 140(5): 330–337.
25. 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 2310 cases and 3204 controls. Study Group for Pooled-Analysis in Venous Thromboembolism. Thromb Haemost 2001; 86(3): 809–816. Erratum inThromb Haemost 2001; 86(6): 1598.
26. Garcia D, Akl EA, Carr R et al. Antiphospholipid antibodies and the risk of recurrence after a first episode of venous thromboembolism: a systematic review. Blood 2013; 122(5): 817–824. Dostupné z DOI: <http://dx.doi.org/10.1182/blood-2013–04–496257>.
27. Buliková A, Penka M. Antifosfolipidový syndróm – diagnostika a léčba. Vnitř Lék 2005; 51(7–8): 809–817.
28. Hicks LK, Bering H, Carson KR et al. Five hematologic tests and treatments to question. Blood 2014; 124(24): 3524–3528. Dostupné z DOI: <http://dx.doi.org/10.1182/blood-2014–09–599399>.
29. Le Gal G, Kovacs MJ, Carrier M et al. Risk of recurrent venous thromboembolism after a first oestrogen-associated episode. Data from the REVERSE cohort study. Thromb Haemost 2010; 104(3): 498–503. Dostupné z DOI: <http://dx.doi.org/10.1160/TH09–10–0685>.
30. Iorio A, Kearon C, Filippucci E et al. Risk of recurrence after a first episode of symptomatic venous thromboembolism provoked by a transient risk factor: a systematic review. Arch Intern Med 2010; 170: 1710–1716.
31. Kim RJ, Becker RC. Association between factor V Leiden, prothrombin G20210A, and methylenetetrahydrofolate reductase C677T mutations and events of the arterial circulatory system: a meta-analysis of published studies. Am Heart J 2003; 146(6): 948–957.
32. Mahmoodi BK, Brouwer JLP, Veeger NJ et al. Hereditary deficiency of protein C or protein S confer increased riskof arterial thromboembolic events at a young age. Results from alarge family cohort study. Circulation 2008; 118(16): 1659–1667. Dostupné z DOI: <http://dx.doi.org/10.1161/CIRCULATIONAHA.108.780759>.
33. Adcock DM, Gosselin R, Kitchen S et al. The effect of dabigatran on select specialty coagulation assays. Am J Clin Pathol 2013; 139(1): 102–109. Dostupné z DOI: <http://dx.doi.org/10.1309/AJCPY6G6ZITVKPVH>.
34. Johnson NV, Khor B, Van Cott EM. Advances in laboratory testing for thrombophilia. Am J Hematol 2012; 87(Suppl 1): S108-S112. Dostupné z DOI: <http://dx.doi.org/10.1002/ajh.23186>.
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Diabetology Endocrinology Internal medicineArticle was published in
Internal Medicine
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