The incidence of venous thromboembolism in family members of patients with factor V Leiden mutation and venous thrombosis.
ABSTRACT The factor V Leiden mutation is a genetic defect associated with an increased incidence of venous thromboembolism. When the incidence of venous thromboembolism in relatives of patients known to have the mutation outweighs the disadvantages of prophylactic strategies, family screening may be necessary.
To determine the incidence of venous thromboembolism in first-degree relatives of symptomatic carriers of the factor V Leiden mutation.
Retrospective blinded study.
437 first-degree relatives of 112 heterozygous propositi and 30 relatives of 6 homozygous propositi.
Before DNA testing, information on previous venous thromboembolism and concomitant risk factors was obtained. Relatives with and without the FV: Q506 mutation were compared.
The annual incidence of thromboembolism in relatives of heterozygous propositi was 0.45% (95% CI, 0.28% to 0.61%) in those with the mutation and 0.10% (CI, 0.02% to 0.19%) in those without the mutation (relative risk, 4.2 [CI, 1.8 to 9.9]). Among carriers, the incidence increased from 0.25% (CI, 0.12% to 0.49%) in the 15- to 30-year-old age group to 1.1% (CI, 0.24% to 3.33%) in persons older than 60 years of age. Half of the episodes of venous thromboembolism occurred spontaneously, 20% were related to surgery, and 30% were associated with pregnancy or use of oral contraceptives.
The observed low annual risk for venous thromboembolism in persons carrying the factor V Leiden mutation does not seem to outweigh the risks for bleeding associated with coumarin prophylaxis or justify discouragement of the use of oral contraceptives. A general policy of screening the families of all patients with the factor V Leiden mutation does not seem to be indicated. The observations in this moderate-size, retrospective study need to be confirmed by prospective follow-up studies.
Full-textDOI: · Available from: Karly Hamulyak, Mar 31, 2015
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ABSTRACT: Several aspects of the diagnostic and therapeutic management of women with venous thrombosis are uncertain. In this overview, I will discuss three major areas. First, the contribution of hormone use to venous thromboembolism (VTE) will be discussed as prudent prescribing of safe preparations can further reduce the risk of hormone-related VTE. Uncertainties remain regarding certain low-dose progestagens and transdermal routing of hormones and their associated risk of VTE. Second, I will review the diagnosis, treatment, and prevention of pregnancy-related VTE. As direct evidence is largely absent for these individuals, these areas are subject to extrapolation from the non-pregnant population. There is therefore an urgent need for the evaluation of diagnostic strategies that safely exclude the diagnosis of acute pulmonary embolism in pregnant women without the need for diagnostic imaging, which is currently the gold standard, as no studies have confidently demonstrated the safety of ruling out VTE by clinical probability assessment combined with the use of D-dimer levels. Although identification of women at increased risk of pregnancy-related VTE is relatively well established, controversy remains for asymptomatic women from thrombophilic families. The optimal duration and intensity of anticoagulant treatment for, and prophylaxis of, pregnancy-related VTE with low molecular weight heparin is unknown. Third, anticoagulant therapy to prevent recurrence in women with unexplained recurrent miscarriage has shown to have no benefit and should not be prescribed. However, whether antithrombotic therapy prevents recurrent miscarriage in thrombophilic women, or in women with severe pregnancy complications, remains unknown and urgently requires future research.Journal of Thrombosis and Haemostasis 06/2013; 11(s1). DOI:10.1111/jth.12266 · 6.08 Impact Factor
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ABSTRACT: The incidence of venous thromboembolism (VTE) is two-fold higher in women than in men during reproductive age, which is likely explained by the use of hormonal contraceptives and by pregnancy in this phase of life. After adjustment for these factors, men have a two-fold higher risk of developing a first VTE compared with women, which is in line with earlier observations that men have a two-fold higher risk of recurrent VTE. These findings indicate that the intrinsic risk of VTE is higher in men than in women. Hormonal contraceptives increase the risk of VTE and the risk varies per type, dose, and administration route. In women with a high baseline risk of VTE, avoidance of some hormonal contraceptives should be considered, as well as thrombosis prophylaxis during pregnancy. Presence of hereditary thrombophilia increases the risk of a first VTE episode. This review focuses on the differences in risk of VTE between men and women, hormonal risk factors for women, and how these interact with common types of hereditary thrombophilia.Blood reviews 05/2014; DOI:10.1016/j.blre.2014.03.005 · 7.19 Impact Factor
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ABSTRACT: This document reflects emerging clinical and scientific advances on the date issued and is subject to change. The information should not be construed as dictating an exclusive course of treatment or procedure to be followed. Local institutions can dictate amendments to these opinions. They should be well documented if modified at the local level. None of these contents may be reproduced in any form without prior written permission of the SOGC. This clinical practice guideline has been prepared by the VTE in Pregnancy Guideline Working Group, reviewed by Maternal Fetal Medicine and Family Physician Advisory committees, and approved by the Executive and Council of the Society of Obstetricians and Gynaecologists of Canada. Disclosure statements have been received from all contributors. using appropriate controlled vocabulary (e.g. pregnancy, venous thromboembolism, deep vein thrombosis, pulmonary embolism, pulmonary thrombosis) and key words (e.g., maternal morbidity, pregnancy complications, thromboprophylaxis, antithrombotic therapy). Results were restricted to systematic reviews, randomized control trials/controlled clinical trials, and observational studies published in English or French. There were no date restrictions. Grey (unpublished) literature was identified through searching the websites of clinical practice guideline collections, clinical trial registries, and national and international medical specialty societies. Values: The quality of evidence in this document was rated using the criteria described in the Report of the Canadian Task Force on Preventative Health Care (Table 1).