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DETECTING PROTHROMBOTIC STATES USING A THROMBIN GENERATION TEST IN RELATIVES OF PATIENTS WITH VENOUS THROMBOEMBOLISM AND FACTOR V LEIDEN

Abstract number: P-M-471

Couturaud¹ F., Duchemin² J., Abgrall² J., Leroyer³ C., Mottier³ D.

¹¹Department of internal medicine and chest disease, EA 3878 ²²Haematology Unit ³³Department of internal medicine and chest disease, EA3878, Brest, France

How-to-cite Couturaud F, Duchemin J, Abgrall J, Leroyer C, Mottier D. DETECTING PROTHROMBOTIC STATES USING A THROMBIN GENERATION TEST IN RELATIVES OF PATIENTS WITH VENOUS THROMBOEMBOLISM AND FACTOR V LEIDEN. J Thromb Haemost 2007; 5 Supplement 2: P-M-471

Abstract

Introduction: The thrombin generation test appears to be highly sensitive and specific in the detection of thrombophilia in patients with venous thromboembolism (VTE). We aimed to determine the accuracy of the thrombin generation test to detect factor V Leiden (FVL) and/or other prothrombotic states in first-degree relatives (FDRs) of patients with VTE and FVL.

Methods: From 161 patients with VTE and FVL, we selected 21 patients with at least one FDR with previous VTE and available frozen blood sample. Results of FVL and the G20210A prothrombin gene mutation and information about oestrogen therapy were available in 62 FDR of the 21 index cases. A thrombin generation test with or without thrombomodulin (TM) was performed in all the 62 FDR. Results were reported as a normalized TM sensitivity ratio (n-TMsr) defined as the ratio of the Endogenous Thrombin Potential determined in the presence and absence of TM which was normalized against the same ratio determined in normal plasma. The normal n-TMsr was determined from 45 control subjects who did not have previous VTE using the 95th percentile.

Results: 45 FDR have FVL, and/or G20210A prothrombin mutation and/or oestrogen therapy (positive group). In this group, 13 FDR had previous VTE (29.9%; 95% CI, 16.4–44.3) whereas 3 FDR of the 17 in the negative group (no detectable prothrombotic state) had VTE (17.7%; 95% CI, 3.8–43.4). The n-TMsr was 1.010.77 in the 17 FDR negative group and 1.390.52 in the positive group (p<0.001). In the FDR with an abnormal n-TMsr, there was an increased risk of having a prothrombotic state (OR=8.10 [95% CI, 1.9–35.3], p=0.005) and of having FVL (OR=9.1 [95%CI, 2.3–35.34], p=0.001), after adjustment on sex, age and previous VTE.

Conclusions: An abnormal n-TMsr is associated with the presence of FVL and/or other prothrombotic state, such as prothrombin mutation or oestrogen therapy, in FDR of patients with VTE and FVL. This test should be evaluated in larger familial cohort in order to identify relatives with high risk of VTE.

To cite this abstract use the following format:

Journal of Thrombosis and Haemostasis 2007; Volume 5, Supplement 2: abstract number

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