Thrombin generation in first-degree relatives of patients with venous thromboembolism who have factor V Leiden. A pilot study.

Francis Couturaud 1, 2, * Jérôme Duchemin Christophe Leroyer 1, 2 Bénédicte Delahousse Jean François Abgrall Dominique Mottier 1, 3 Non Renseigné
* Auteur correspondant
1 GETBO - Groupe d'Etude de la Thrombose de Bretagne Occidentale
2 DMIP - Brest - Département de Médecine Interne et Pneumologie [Brest]
3 CIC - Brest - Centre d'Investigation Clinique
Abstract : The thrombin generation test appears to be a highly sensitive and specific test in the detection of thrombophilia in patients with venous thromboembolism. We aimed to determine the accuracy of the thrombin generation test to detect factor V Leiden and/or other prothrombotic states in first-degree relatives of patients with venous thromboembolism and factor V Leiden. Sixty-two first-degree relatives of 21 index cases were tested for factor V Leiden, the G20210A prothrombin gene mutation and thrombin generation. Information about oestrogen therapy and previous VTE was also collected. The normalized Thrombomodulin sensitivity ratio (n-TMsr) was defined as the ratio of endogenous thrombin potential determined in the presence and absence of thrombomodulin which was normalized against the same ratio determined in normal control plasma. The mean n-TMsr was 1.37 (+/- 0.33) in the 45 relatives with one or more prothrombotic state (factor V Leiden, G20210A prothrombin mutation, oestrogen therapy or hormonal therapy) and 1.02 (+/- 0.34) in the 17 relatives without prothrombotic state (p = 0.001). The positive predictive value was 90.3 (95%CI, 73.1-97.4). In relatives with an abnormal n-TMsr, the adjusted odds ratio for having a prothrombotic state was 8.3 (95%CI, 1.9-36.9) and the adjusted odds ratio for having the factor V Leiden was 14.3 (95%CI, 2.9-71.2). An abnormal thrombin generation test appears highly predictive for having factor V Leiden and/or other prothrombotic states in first-degree relatives of patients with venous thromboembolism and factor V Leiden.
Type de document :
Article dans une revue
Thrombosis and Haemostasis, Schattauer, 2008, 99 (1), pp.223-8. 〈10.1160/TH07-08-0515〉
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http://hal.univ-brest.fr/hal-00684147
Contributeur : Ghislaine Calvez <>
Soumis le : vendredi 30 mars 2012 - 16:30:01
Dernière modification le : mercredi 10 janvier 2018 - 14:42:02

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GETBO | UNIV-BREST

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Francis Couturaud, Jérôme Duchemin, Christophe Leroyer, Bénédicte Delahousse, Jean François Abgrall, et al.. Thrombin generation in first-degree relatives of patients with venous thromboembolism who have factor V Leiden. A pilot study.. Thrombosis and Haemostasis, Schattauer, 2008, 99 (1), pp.223-8. 〈10.1160/TH07-08-0515〉. 〈hal-00684147〉

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