Résistance à la protéine C activée et facteur V Leiden : intérêt clinique

Bertina, 1994, Mutation in blood coagulation factor V associated with resistance to activated protein C, Nature, 369, 64, 10.1038/369064a0 Dahlback, 1993, 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 Sci U S A, 90, 1004, 10.1073/pnas.90.3.1004 Shen, 1994, Factor V and protein S as synergistic cofactors to activated protein C in degradation of factor VIIIa, J Biol Chem, 269, 18735, 10.1016/S0021-9258(17)32228-7 Varadi, 1995, Influence of factor V and factor Va on APC-induced cleavage of human factor VIII, Thromb Haemost, 73, 730, 10.1055/s-0038-1653853 Ehrenforth, 1995, Acquired activated protein C resistance in patients with lupus anticoagulants, Thromb Haemost, 74, 797, 10.1055/s-0038-1649818 Henkens, 1995, Lowered APC sensitivity ratio related to increased factor VIII clotting activity, Thromb Haemost, 74, 1198, 10.1055/s-0038-1649904 Cumming, 1995, Development of resistance to activated protein C during pregnancy, Br J Haematol, 90, 725, 10.1111/j.1365-2141.1995.tb05610.x Curvers, 1999, Acquired APC resistance and oral contraceptives: differences between two functional tests, Br J Haematol, 105, 88, 10.1111/j.1365-2141.1999.01302.x Olivieri, 1995, Resistance to activated protein C in healthy women taking oral contraceptives, Br J Hematol, 91, 465, 10.1111/j.1365-2141.1995.tb05323.x Jorquera, 1994, Modified test for activated protein C resistance, Lancet, 344, 1162, 10.1016/S0140-6736(94)90673-4 Trossaërt, 1994, Modified APC resistance assay for patients on oral anticoagulants, Lancet, 344, 1709, 10.1016/S0140-6736(94)90494-4 Tripodi, 2002, Laboratory diagnosis of thrombophilic states: where do we stand?, Pathophysiol Haemost Thromb, 32, 245, 10.1159/000073574 Rosendaal, 1995, High risk of thrombosis in patients homozygous for factor V Leiden (activated protein C resistance), Blood, 85, 1504, 10.1182/blood.V85.6.1504.bloodjournal8561504 Walker, 2001, Investigation and management of heritable thrombophilia. Guideline, Br J Haematol, 114, 512, 10.1046/j.1365-2141.2001.02981.x Williamson, 1998, Cambridge: a new mutation (Arg306→Thr) associated with resistance to activated protein C, Blood, 91, 1140, 10.1182/blood.V91.4.1140 Chan, 1998, A novel mutation of Arg306 of factor V gene in Hong Kong Chinese, Blood, 91, 1135, 10.1182/blood.V91.4.1135 Haute Autorité de Santé. Test de résistance à la protéine C activée. Recherche de la mutation Facteur V Leiden. Recherche de la mutation G20210A de la prothrombine. Septembre 2006. Téléchargeable sur le site : www.has-sante.fr. Rees, 1995, World distribution of factor V Leiden, Lancet, 346, 1133, 10.1016/S0140-6736(95)91803-5 Zivelin, 2006, Prothrombin 20210G>A is an ancestral prothrombotic mutation that occurred in whites approximately 24,000 years ago, Blood, 107, 4666, 10.1182/blood-2005-12-5158 De Visser, 1999, A reduced sensitivity for activated protein C in the absence of factor V Leiden increases the risk of venous thrombosis, Blood, 93, 1271, 10.1182/blood.V93.4.1271 Graf, 2003, Activated protein C resistance assay detects thrombotic risk factors other than factor V Leiden, Am J Clin Pathol, 119, 52, 10.1309/QCUUNRMVJY8MWPPL Bounameaux, 2000, Factor V Leiden paradox: risk of deep-vein thrombosis but not of pulmonary embolism, Lancet, 356, 182, 10.1016/S0140-6736(00)02476-4 Marchiori, 2007, The risk of recurrent venous thromboembolism among heterozygous carriers of factor V Leiden or prothrombin G20210A mutation. A systematic review of prospective studies, Haematologica, 92, 1107, 10.3324/haematol.10234 Prandoni, 2008, Duration of anticoagulation and risk of recurrent thromboembolism in carriers of factor V Leiden or prothrombin mutation, J Thromb Haemost, 6, 2223, 10.1111/j.1538-7836.2008.03173.x Bernardi, 1997, A factor V genetic component differing from factor V R506Q contributes to the activated protein C resistance phenotype, Blood, 90, 1552, 10.1182/blood.V90.4.1552 Ye, 2006, Seven haemostatic gene polymorphisms in coronary disease: Meta-analysis of 66,155 cases and 91,307 controls, Lancet, 367, 651, 10.1016/S0140-6736(06)68263-9 Casas, 2004, Meta-analysis of genetic studies in ischemic stroke: Thirty-two genes involving approximately 18,000 cases and 58,000 controls, Arch Neurol, 61, 1652, 10.1001/archneur.61.11.1652 Robert-Ebadi, 2007, Inherited thrombophilia and arterial diseases, Rev Med Suisse, 3, 331 Blom, 2005, Malignancies, prothrombotic mutations, and the risk of venous thrombosis, JAMA, 293, 715, 10.1001/jama.293.6.715 Gieseler, 2008, Pathophysiological considerations to thrombophilia in the treatment of multiple myeloma with thalidomide and derivates, Thromb Haemost, 99, 1001, 10.1160/TH08-01-0009 Dentali, 2008, Association between inherited thrombophilic abnormalities and central venous catheter thrombosis in patients with cancer: a meta-analysis, J Thromb Haemost, 6, 10.1111/j.1538-7836.2007.02823.x Kovalevsky, 2004, Evaluation of the association between hereditary thrombophilias and recurrent pregnancy loss: a meta-analysis, Arch Intern Med, 164, 558, 10.1001/archinte.164.5.558 Pabinger, 2005, Thrombophilia and pregnancy outcomes, J Thromb Haemost, 3, 1603-0, 10.1111/j.1538-7836.2005.01417.x Rey, 2003, Thrombophilic disorders and fetal loss: a meta-analysis, Lancet, 361, 901, 10.1016/S0140-6736(03)12771-7 Dudding, 2008, Factor V Leiden is associated with pre-eclampsia but not with fetal growth restriction: a genetic association study and meta-analysis, J Thromb Haemost, 6, 1868, 10.1111/j.1538-7836.2008.03134.x Pasquier, 2009, Inherited thrombophilias and unexplained pregnancy loss: an incident case control study, J Thromb Haemost, 7, 306, 10.1111/j.1538-7836.2008.03229.x Kist, 2008, Thrombophilias and adverse pregnancy outcome – A confounded problem!, Thromb Haemost, 99, 77, 10.1160/TH07-05-0373 Lindqvist, 2006, Activated protein C resistance – in the absence of factor V Leiden – and pregnancy, J Thromb Haemost, 4, 361, 10.1111/j.1538-7836.2006.01714.x Rai, 2001, Factor V Leiden and acquired activated protein C resistance among 1000 women with recurrent miscarriage, Hum Reprod, 16, 10.1093/humrep/16.5.961 Bates, 2004, Use of antithrombotic agents during pregnancy. The Seventh ACCP Conference on Antithrombotic and Thrombolytic Therapy: evidence-based guidelines, Chest, 126, 627S, 10.1378/chest.126.3_suppl.627S