Vargas-Ruiz ÁG

Language: Spanish
References: 25
Page: 79-85
PDF size: 275.59 Kb.

ABSTRACT

Thrombophilia is a congenital or acquired disorder of coagulation that increases the thrombosis risk. In this article we review the genetic thrombophilia and the current laboratory recommendations for the thrombophilia evaluation. We also review the nonrecommended tests of congenital thrombophilia and the obligatory test about acquired prothrombotic conditions. Finally, we review the current utility of thrombophilia test in order to determine the optimal anticoagulation duration.

REFERENCES

1. Lim MY, Moll S. Thrombophilia. Vasc Med 2015;20(2):193-6.

2. 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(19):1710-6.

3. Kearon C, Akl EA, Ornelas J, et al. Antithrombotic therapy for VTE disease. Chest 2016;149(2):315-352.

4. Baglin T, Gray E, Greaves M, et al. Clinical guidelines for testing for heritable thrombophilia. Br J Haematol 2010;149(2):209-20.

5. Di Minno MND, Ambrosino P, Ageno W, et al. Natural anticoagulants deficiency and the risk of venous thromboembolism: a meta-analysis of observational studies. Thromb Res 2015;135(5):923-32.

6. Kumar R, Chan AKC, Dawson JE, et al. Clinical presentation and molecular basis of congenital antithrombin deficiency in children: a cohort study. Br J Haematol 2014;166(1):130-9.

7. Persson KEM, Dahlbäck B, Hillarp A. Diagnosing protein S deficiency: analytical considerations. Clin Lab 2003;49(3- 4):103-10.

8. 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):64-7.

9. Lacayo-Leñero D, Hernández-Hernández D, Valencia- Martínez A, Barrales-Benítez O, Vargas-Ruiz AG. Primary thrombophilia in Mexico: a single tertiary referral hospital experience. Blood Coagul. Fibrinolysis 2016;27(8):920- 924.

10. Juul K, Tybjaerg-Hansen A, Schnohr P, Nordestgaard BG. Factor V Leiden and the risk for venous thromboembolism in the adult Danish population. Ann Intern Med 2004;140(5):330-7.

11. Gehring NH, Frede U, Neu-Yilik G, et al. Increased efficiency of mRNA 3’ end formation: a new genetic mechanism contributing to hereditary thrombophilia. Nat Genet 2001;28(4):389-92.

12. Simone B, De Stefano V, Leoncini E, et al. Risk of venous thromboembolism associated with single and combined effects of factor V Leiden, prothrombin 20210A and methylenetethraydrofolate reductase C677T: a metaanalysis involving over 11,000 cases and 21,000 controls. Eur J Epidemiol 2013;28(8):621-47.

13. Muszbek L, Bereczky Z, Kovács B, Komáromi I. Antithrombin deficiency and its laboratory diagnosis. Clin Chem Lab Med 2010;48 Suppl 1:S67-78.

14. Kisiel W, Kondo S, Smith KJ, McMullen BA, Smith LF. Characterization of a protein C activator from Agkistrodon contortrix contortrix venom. J Biol Chem 1987;262(26):12607-13.

15. Marlar RA, Gausman JN. Protein S abnormalities: a diagnostic nightmare. Am J Hematol 2011;86(5):418-21.

16. Favaloro EJ, McDonald D, Lippi G. Laboratory investigation of thrombophilia: the good, the bad, and the ugly. Semin Thromb Hemost 2009;35(7):695-710.

17. Connors JM. Thrombophilia testing and venous thrombosis. N Engl J Med 2017;377(12):1177-1187.

18. Prandoni P, Noventa F, Ghirarduzzi A, et al. The risk of recurrent venous thromboembolism after discontinuing anticoagulation in patients with acute proximal deep vein thrombosis or pulmonary embolism. A prospective cohort study in 1,626 patients. Haematologica 2007;92(2):199-205.

19. Favaloro EJ. The futility of thrombophilia testing. Clin Chem Lab Med 2014;52(4):499-503.

20. Franchini M, Martinelli I, Mannucci PM. Uncertain thrombophilia markers. Thromb Haemost 2016;115(1):25-30.

21. Jenkins PV, Rawley O, Smith OP, O’Donnell JS. Elevated factor VIII levels and risk of venous thrombosis. Br J Haematol 2012;157(6):653-63.

22. Cristina L, Benilde C, Michela C, et al. High plasma levels of factor VIII and risk of recurrence of venous thromboembolism. Br J Haematol 2004;124(4):504-10.

23. Hickey SE, Curry CJ, Toriello H V. ACMG Practice Guideline: lack of evidence for MTHFR polymorphism testing. Genet Med 2013;15(2):153-6.

24. Kumar A, Palfrey HA, Pathak R, et al. The metabolism and significance of homocysteine in nutrition and health. Nutr Metab (Lond) 2017;14(1):78.

25. Kubisz P, Ruiz-Argüelles GJ, Stasko J, Holly P, Ruiz-Delgado GJ. Sticky platelet syndrome: history and future perspectives. Semin Thromb Hemost 2014;40(5):526-34.