Trombofilia y trombosis
- Sierra Aisa, C.
- Moretó Quintana, A.
- Iruín Irulegui, G.
- Martín Martitegui, X.
- García-Ruiz, J.C.
ISSN: 0304-5412
Datum der Publikation: 2016
Serie: 12
Nummer: 22
Seiten: 1284-1292
Art: Artikel
Andere Publikationen in: Medicine: Programa de Formación Médica Continuada Acreditado
Zusammenfassung
Abstract Introduction Thrombophilias are hereditary or acquired conditions which can increase the risk of venous or arterial thrombosis. As the etiology of thrombosis is multifactorial, the presence of a thrombophilic defect is only one of many elements that determine risk. Indication and evaluation The study of these alterations, should be considered in patients with a documented unexplained thrombotic episode or a positive family history, recurrent thrombosis, unusual location, skin necrosis produced by coumarin or thrombosis during pregnancy or the postpartum period. Diagnosis It is really important the investigation of personal and family medical history; and in those patients with high suspicion of thrombophilia, we must look for factor V Leiden and prothrombin gene G20210A mutation, protein C, protein S, antithrombin III and antiphospholipid antibodies.
Bibliographische Referenzen
- White RH. The epidemiology of venous thromboembolism. Circulation. 2003;107Suppl1:4-8.
- Kesieme E, Kesieme C, Jebbin N, Irekpita E, Dongo A. Deep vein throm-bosis: a clinical review. J Blood Med. 2011;2:59-69.
- Wolberg AS, Aleman MM, Leiderman K, Machlus KR. Procoagulant ac-tivity in hemostasis and thrombosis: Virchow ́s triad revisited. Anesth Analg. 2012;114:275-85.
- Virchow R. Phlogose und Thrombose im Gefaßsystem; Gesammelte Abhandlungen zur Wissenschaftlichen Medizin. Frankfurt: Verlag von Meidlinger Sohn and Comp; 1856. p. 458-636.
- Rosendaal FR, Reitsma PH. Genetics of venous thrombosis. J Thromb Haemost. 2009:7Suppl1:301-4.
- Crowther MA, Kelton J. Congenital thrombophilic states associated with venous thrombosis: a qualitative overview and proposed classification sys-tem. Ann Intern Med. 2003;138:128-34.
- Merriman l, Greaves M. Testing for thrombophilia: an evidence-based approach. Postgrad Med J. 2006;82:699-704.
- Egeberg O. Inherited antithrombin deficiency causing thrombophilia. Thromb Diath Haemorrh. 1965;13:516-30.
- Griffin JH, Evatt B, Zimmerman TS, Kleiss AJ, Wideman C. Deficiency of protein C in congenital thrombotic disease. J Clin Invest. 1981;68:1370-3.
- Comp PC, Esmon CT. Recurrent venous thromboembolism in patients with a partial deficiency of protein S. N Eng J Med. 1984;311:1525-8.
- Heit JA. The epidemiology of venous thromboembolism in the commu-nity. Arterioscler Thromb Vasc Biol. 2008;28:370-2.
- Koster T, Rosendaal FR, Bertina RM. Venous thrombosis due to poor anticoagulant response to activated protein C: Leiden Thrombophilia Study. Lancet. 1993;342:1503-6.
- Rees DC, Cox M, Clegg JB. World distribution of factor V Leiden. Lan-cet. 1995;346:1133-4.
- Norstrom E, Thorelli E, Dahlbäck B. Functional characterization of re-combinant FV Hong Kong and FV Cambridge. Blood. 2002;100:524-30.
- Poort SR, Rosendaal FR, Reitsma PH, Bertina RM. A common genetic variation in the 3 ́-untranslated region of the prothrombin gene is asso-ciated with elevated plasma prothrombin levels and an increase in venous thrombosis. Blood. 1996;88:3698-703.
- Cushman M, Tsai AW, White RH, Heckbert SR, Rosamond WD, En-right P, et al. Deep vein thrombosis and pulmonary embolism in two co-horts: The Longitudinal Investigation of Thromboembolism Etiology. Am J Med. 2004;117:19-25.
- Mammen EF. Antithrombin: its physiological importance and role in DIC. Semin Thromb Haemost. 1998;24:19-25.
- De Stefano V, Finazzi G, Mannucci PM. Inherited thrombophilia: patho-genesis, clinical syndromes, and management. Blood. 1996;87:3531-44.
- Kisiel W. Human plasma protein C. Isolation, characterization and me-chanism of activation by alpha-thrombin. J Clin Invest. 1979;64:761-9.
- Borgel D, Gandrille S, Aiach M. Protein S deficiency. Thromb Haemost. 1997;78:351-6.
- Franchini M, Veneri D, Salvagno GL, Manzato F, Lippi G. Inherited thrombophilia. Crit Rev Clin Lab Sci. 2006;43:249-90.
- Franchini M, Mannucci PM. ABO blood group and thrombotic vascular disease. Thromb Haemost. 2014;112:1103-9.
- Dentali F, Sironi AP, Ageno W, Turato S, Bonfanti C, Frattini F, et al. Non-O blood type is the commonest genetic risk factor for VTE: results from a meta-analysis of the literatura. Semin Thromb Haemost. 2012;38: 535-48.
- Wu O, Bayoumi N, Vickers MA, Clark P. ABO(H) blood groups and vas-cular disease: a systematic review and meta-analysis. J Thromb Haemost. 2008;6:62-9.
- Dentali F, Franchini M. Recurrent venous thromboembolism: a role for ABO blood group? Thromb Haemost. 2013;110:1110-1.
- Manucci PM, Franchini M. Classic thrombophilic gene variants. J Thromb Haemost. 2015; 114:885-9.
- Naess IA, Christiansen SC, Romundstad PR, Cannegieter SC, Blom HJ, Rosendaal FR, et al. Prospective study of homocysteine and MTHFR 677TT genotype and risk for venous thrombosis in a general population – results from the HUNT 2 study. Br J Haematol. 2007;141:529-35.
- Ray JG, Shmorgun D, Chan WS. Common C677T polymorphism of the methylenetetrahydrofolate reductase gene and the risk of venous throm-boembolism: meta-analysis of 31 studies. Pathophysiol Haemost Thromb. 2002;32(2):51-8.
- Bezemer ID, Doggen CJ, Vos HL, Rosendaal FR. No association between the common MTHFR 677C-T polymorphism and venous thrombosis : results from the MEGA study. Arch Intern Med. 2007;167(5):497-501.
- Bazzan M, Vaccarino A, Stella S, Sciascia S, Montaruli B, Bertero MT, et al. Patients with antiphospholipid syndrome and thrombotic recurrences: A real world observation (the Piedmont cohort study). Lupus. 2016;25(5): 479-85.
- Pastori D, Parrotto S, Vicario T, Saliola M, Mezzaroma I, Violi F, et al. Antiphospholipid syndrome and anticoagulation quality: a clinical cha-llenge. Atherosclerosis. 2016;244:48-50.
- Cohn DM, Vansenne F, Kaptein AA, De Borgie CA, Middeldorp S. The psychological impact of testing for thrombophilia: a systematic review. J Thromb Haemost. 2008;6:1099-104.
- Bank I, Scavenius MP, Buller HR, Meddeldorp S. Social aspects of gene-tic testing for factor V Leiden mutation in healthy individuals and their importance for daily practice. Thromb Res. 2004;113:7-12.
- Moll S. Thrombophilia: clinical-practical aspects. J Thromb Thromboly-sis. 2015;39(3):367-78.
- Stevens SM, Woller SC, Bauer KA, Kasthuri R, Cushman M, Streiff M et al. Guidance for the evaluation and treatment of here-ditary and acquired thrombophilia. J Thromb Thrombolysis 2016; 41:154-64.
- Saar JA, Maack C. Diagnosis and management of acute pulmonary embo-lism: ESC guidelines 2014. Herz. 2015;40(8):1048-54.
- Luo Q, Xie J, Han Q, Tang C, Chen X, Wu L, et al. Prevalence of venous thromboembolic events and diagnostic performance of the wells score and revised Geneva scores for pulmonary embolism in patients with in-terstitial lung disease: a prospective study. Hear Lung Cir. 2014;23(8):778-85.
- Thaler J, Pabinger I, Ay C. Anticoagulant treatment of depp vein throm-bosis and pulmonary embolism: the present state of the art. Font Cardio-vasc Med. 2015;14:2-30.
- Cohen AT, Hamilton M, Mitchell SA, Phatak H, Liu X, Bird A, et al. Comparison of the novel oral anticoagulants apixabán, dabigatrán, edoxa-bán and rivaroxaban in the initial and long-term treatment and preven-tion of venous thromboembolism: systematic review and network meta-analysis. PLoS One. 2015;30:10(12).
- Kearon C, Akl EA, Ornelas J, Blaivas A, Jiménez D, Bounameaux H et al. Antithrombotic therapy for VTE disease: CHEST Guideli-ne and Expert Panel Report. Chest. 2016;149(2):315-52.