Submitted April 11, 2006
Accepted June 5, 2006
A prospective cohort study on the absolute incidence Of venous thromboembolism and arterial cardiovascular disease in asymptomatic carriers of the prothrombin 20210A mutation
Michiel Coppens*, Marlene H van de Poel, Ivan Bank, Karly Hamulyak, Jan van der Meer, Nic J Veeger, Martin H Prins, Harry R Buller, and Saskia Middeldorp
Academic Medical Center, Amsterdam, The Netherlands
University Medical Center Groningen, Groningen, The Netherlands
Academic Hospital Maastricht, Maastricht, The Netherlands
* Corresponding author; email: m.coppens{at}amc.nl.
The prothrombin 20210A mutation has been associated with an increased risk for venous thromboembolism and arterial cardiovascular disease. The risks for asymptomatic carriers of this mutation have thus far only been studied in case-control and retrospective cohort studies. Here we present the results of the first prospective observational study in asymptomatic first degree family members of patients with either VTE or premature atherosclerosis and the prothrombin 20210A mutation. We included 464 individuals (236 carriers) with a total follow-up duration of 1816 years (943 years for the carriers). The annual incidence of a first VTE was 0.37% (95%CI: 0.08-1.08) for carriers and 0.12% (95%CI 0.00-0.69) for non-carriers (HR 3.1; 95%CI 0.3-29.6). The annual incidence of a first arterial cardiovascular event was 0.56% (95%CI 0.18-1.31) for carriers and 0.73% (95%CI 0.27-1.58) for non-carriers (adjusted HR 0.7, 95% CI 0.2-2.5). We conclude that the absolute incidence of a first VTE or arterial cardiovascular event is low; therefore, the clinical implications of carriership of the prothrombin 20210A mutation are limited and routinely testing all first degree relatives of probands with this mutation does not appear to be justified.
