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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. This Article Full Text Full Text (PDF) All Versions of this Article: blood-2008-10-184879v1 113/21/5314    most recent Alert me when this article is cited Alert me if a correction is posted Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Rights and Permissions Citing Articles Citing Articles via HighWire Citing Articles via CrossRef Citing Articles via Google Scholar Google Scholar Articles by Lijfering, W. M. Articles by van der Meer, J. Search for Related Content PubMed PubMed Citation Articles by Lijfering, W. M. Articles by van der Meer, J. Related Collections Thrombosis and Hemostasis Clinical Trials and Observations Related Article in Blood Online Social Bookmarking                   What's this?  Previous Article  |  Table of Contents  |  Next Article  THROMBOSIS AND HEMOSTASIS 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. Lijfering1, Jan-Leendert P. Brouwer1, Nic J. G. M. Veeger1, Ivan Bank2, Michiel Coppens2, Saskia Middeldorp2, Karly Hamulyák3, Martin H. Prins4, Harry R. Büller2, and Jan van der Meer1 1 Division of Haemostasis, Thrombosis and Rheology, Department of Hematology, University Medical Center Groningen, Groningen; 2 Department of Vascular Medicine, Academic Medical Center, Amsterdam; 3 Department of Hematology, University Hospital Maastricht, Maastricht; and 4 Department of Clinical Epidemiology and Medical Technology Assessment, University Hospital Maastricht, Maastricht, The Netherlands 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 of more than 20% symptomatic relatives. In relatives with factor V (FV) Leiden, prothrombin 20210G>A, 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), respectively. High FIX, FXI, and 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 20210G>A, 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. CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this? Related Article in Blood Online: Thrombophilia: grading the risk Michael Makris Blood 2009 113: 5038-5039. [Full Text] [PDF] This article has been cited by other articles: W. M. Lijfering, N. J. G. M. Veeger, S. Middeldorp, K. Hamulyak, M. H. Prins, H. R. Buller, and J. van der Meer A lower risk of recurrent venous thrombosis in women compared with men is explained by sex-specific risk factors at time of first venous thrombosis in thrombophilic families Blood, September 3, 2009; 114(10): 2031 - 2036. [Abstract] [Full Text] [PDF] Screening for Thrombophilia Journal Watch Oncology and Hematology, June 30, 2009; 2009(630): 3 - 3. [Full Text] M. Makris Thrombophilia: grading the risk Blood, May 21, 2009; 113(21): 5038 - 5039. [Full Text] [PDF]

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