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Blood, 21 May 2009, Vol. 113, No. 21, pp. 5314-5322.
Prepublished online as a Blood First Edition Paper on January 12, 2009; DOI 10.1182/blood-2008-10-184879.
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Submitted October 17, 2008
Accepted January 1, 2009
Selective testing for thrombophilia in patients with first venous thrombosis.
Results from a retrospective family cohort study on absolute thrombotic risk for currently known thrombophilic defects in 2479 relatives
Willem M. Lijfering*, Jan-Leendert P. Brouwer, Nic J.G.M. Veeger, Ivan Bank, Michiel Coppens, Saskia Middeldorp, Karly Hamulyak, Martin H. Prins, Harry R. Buller, and Jan van der Meer
Division of Haemostasis, Thrombosis and Rheology, Department of Hematology, University Medical Center Groningen, Groningen, Netherlands
Department of Vascular Medicine, Academic Medical Center, Amsterdam, Netherlands
Department of Hematology, University Hospital Maastricht, Maastricht, Netherlands
Department of Clinical Epidemiology and Medical Technology Assessment, University Hospital Maastricht, Maastricht, Netherlands
* Corresponding author; email: w.lijfering{at}int.umcg.nl.
Thrombophilia screening is controversial. In a retrospective family cohort, where probands had thrombosis and a thrombophilic defect, 2479 relatives were tested for thrombophilia. In antithrombin, protein C, and protein S deficient relatives, annual incidences of venous thrombosis were 1.77% (95%CI, 1.14-2.60), 1.52% (95%CI, 1.06-2.11) and 1.90% (95%CI, 1.32-2.64), respectively, at a median age of 29 years and a positive family history >20% symptomatic relatives. In relatives with factor (F)V Leiden, prothrombin G20210A or high FVIII levels, these were 0.49% (95%CI, 0.39-0.60), 0.34% (95%CI, 0.22-0.49) and 0.49% (95%CI, 0.41-0.51). High FIX, FXI, TAFI and hyperhomocysteinemia were not independent risk factors. Annual incidence of major bleeding in antithrombin, protein C or protein S deficient relatives on anticoagulants was 0.29% (95%CI, 0.03-1.04). Cumulative recurrence rates in relatives with antithrombin, protein C or protein S deficiency were 19% at 2 years, 40% at 5 years and 55% at 10 years. In relatives with FV Leiden, prothrombin G20210A or high levels FVIII, these were 7%, 11% and 25%, respectively. Considering its clinical implications, thrombophilia testing should address hereditary deficiencies of antithrombin, protein C and protein S in patients with first venous thrombosis at young age and/or a strong family history of venous thrombosis.
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