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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.
Blood 2009; 113(21):5314-22Blood

Abstract

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.

Authors+Show Affiliations

Department of Hematology, University Medical Center Groningen, The Netherlands. w.lijfering@int.umcg.nlNo affiliation info availableNo affiliation info availableNo affiliation info availableNo 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

19139080

Citation

Lijfering, Willem M., et al. "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." Blood, vol. 113, no. 21, 2009, pp. 5314-22.
Lijfering WM, Brouwer JL, Veeger NJ, et al. 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. Blood. 2009;113(21):5314-22.
Lijfering, W. M., Brouwer, J. L., Veeger, N. J., Bank, I., Coppens, M., Middeldorp, S., ... van der Meer, J. (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. Blood, 113(21), pp. 5314-22. doi:10.1182/blood-2008-10-184879.
Lijfering WM, et al. 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. Blood. 2009 May 21;113(21):5314-22. PubMed PMID: 19139080.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - 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. AU - Lijfering,Willem M, AU - Brouwer,Jan-Leendert P, AU - Veeger,Nic J G M, AU - Bank,Ivan, AU - Coppens,Michiel, AU - Middeldorp,Saskia, AU - Hamulyák,Karly, AU - Prins,Martin H, AU - Büller,Harry R, AU - van der Meer,Jan, Y1 - 2009/01/12/ PY - 2009/1/14/entrez PY - 2009/1/14/pubmed PY - 2009/6/18/medline SP - 5314 EP - 22 JF - Blood JO - Blood VL - 113 IS - 21 N2 - 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. SN - 1528-0020 UR - https://www.unboundmedicine.com/medline/citation/19139080/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_ L2 - http://www.bloodjournal.org/cgi/pmidlookup?view=long&pmid=19139080 DB - PRIME DP - Unbound Medicine ER -