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Thrombin generation in first-degree relatives of patients with venous thromboembolism who have factor V Leiden. A pilot study.
Thromb Haemost. 2008 Jan; 99(1):223-8.TH

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.

Authors+Show Affiliations

G.E.T.B.O. (Groupe d'Etude de la Thrombose de Bretagne Occidentale), EA 3878, Department of Internal Medicine and Chest Diseases, University Hospital of Brest, Brest, France. francis.couturaud@chu-brest.frNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

18217158

Citation

Couturaud, Francis, et al. "Thrombin Generation in First-degree Relatives of Patients With Venous Thromboembolism Who Have Factor V Leiden. a Pilot Study." Thrombosis and Haemostasis, vol. 99, no. 1, 2008, pp. 223-8.
Couturaud F, Duchemin J, Leroyer C, et al. Thrombin generation in first-degree relatives of patients with venous thromboembolism who have factor V Leiden. A pilot study. Thromb Haemost. 2008;99(1):223-8.
Couturaud, F., Duchemin, J., Leroyer, C., Delahousse, B., Abgrall, J. F., & Mottier, D. (2008). Thrombin generation in first-degree relatives of patients with venous thromboembolism who have factor V Leiden. A pilot study. Thrombosis and Haemostasis, 99(1), 223-8. https://doi.org/10.1160/TH07-08-0515
Couturaud F, et al. Thrombin Generation in First-degree Relatives of Patients With Venous Thromboembolism Who Have Factor V Leiden. a Pilot Study. Thromb Haemost. 2008;99(1):223-8. PubMed PMID: 18217158.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Thrombin generation in first-degree relatives of patients with venous thromboembolism who have factor V Leiden. A pilot study. AU - Couturaud,Francis, AU - Duchemin,Jérôme, AU - Leroyer,Christophe, AU - Delahousse,Bénédicte, AU - Abgrall,Jean François, AU - Mottier,Dominique, AU - ,, PY - 2008/1/25/pubmed PY - 2008/2/22/medline PY - 2008/1/25/entrez SP - 223 EP - 8 JF - Thrombosis and haemostasis JO - Thromb. Haemost. VL - 99 IS - 1 N2 - 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. SN - 0340-6245 UR - https://www.unboundmedicine.com/medline/citation/18217158/Thrombin_generation_in_first_degree_relatives_of_patients_with_venous_thromboembolism_who_have_factor_V_Leiden__A_pilot_study_ L2 - http://www.thieme-connect.com/DOI/DOI?10.1160/TH07-08-0515 DB - PRIME DP - Unbound Medicine ER -