A Prospective Study of Asymptomatic Carriers of the Factor V Leiden Mutation To Determine the Incidence of Venous Thromboembolism

Middeldorp, Saskia; Meinardi, Johan R.; Koopman, M. M. W.; Pampus, E.C.M. van; Hamulyák, Karly; Meer, Jan van der; Prins, Martin H.; Büller, Harry R.

doi:10.7326/0003-4819-135-5-200109040-00008

Cited by 180 publications

(146 citation statements)

References 19 publications

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“…It is common (the most prevalent alteration, FVL is present in 1:25 of Caucasians) and associated with low risk (healthy individuals, who are heterozygous for FVL, are estimated to have approximately 0.6% annual risk of a DVT) (Middeldorp, 2001). Preventive strategies include avoidance of oral contraceptives and hormone replacement therapy, prophylactic anti-coagulants in high risk situations, caution during long flights and avoidance of overweight and smoking.…”

Section: Genetic Exceptionalismmentioning

confidence: 99%

Are genetic tests exceptional? Lessons from a qualitative study on thrombophilia

Saukko

Richards

Shepherd

et al. 2006

Social Science & Medicine

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Policy makers have suggested that information about genetic risk factors, which are associated with low risk and for which preventive strategies exist, should not be considered "exceptional" and should not warrant special safeguards, such as data protection or specialist pre-test counselling. There is scant research on how such risk factors are perceived, and to explore this we conducted qualitative interviews with fortytwo participants, who had undergone testing for a low risk genetic susceptibility to deep vein thrombosis (DVT). Generally the participants thought the test was less serious than a genetic test for a predisposition to breast cancer or a non-genetic, diagnostic test for diabetes. They had used the genetic information to reduce their risk of DVTs by avoiding oral contraceptives and hormone replacement therapy but had not changed their lifestyle.Many participants considered pre-test genetic counselling unnecessary. However, a subgroup of participants, who were often less educated or at a high risk, were distressed and/or confused about thrombophilia and thought pre-test counselling would have been helpful. The findings indicate an emerging interpretation of genetics not as revealing exceptional or "in depth" knowledge about one's health and identity but as occasionally relevant surface information, which participants used to make specific health decisions

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Section: Genetic Exceptionalismmentioning

confidence: 99%

Are genetic tests exceptional? Lessons from a qualitative study on thrombophilia

Saukko

Richards

Shepherd

et al. 2006

Social Science & Medicine

View full text Add to dashboard Cite

show abstract

“…In regions where prophylaxis is not administered according to accepted standards, family testing that includes accurate patient education and counseling may increase the appropriate use of prophylaxis in risk settings, thereby reducing the incidence of VT. If family testing is done in a region where prophylaxis is aggressively administered to all patients, it is unlikely that this testing will reduce the incidence of secondary VT. 34 Since one-half of VT cases are due to triggering factors, and genetic factors are key risk factors, it is possible that family testing could reduce the burden of VT. The practice of family testing has likely most influenced the use of prophylactic anticoagulation in pregnancy in affected female relatives, who for some disorders have a VT incidence estimated as high as 4% per pregnancy in the absence of prophylaxis.…”

Section: Family Testingmentioning

confidence: 99%

Inherited Risk Factors for Venous Thrombosis

Cushman¹

2005

Hematology

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Venous thrombosis occurs as a consequence of genetic and environmental risk factors. Since the discovery of factor V Leiden, the most common genetic risk factor, there has been intense interest in clarifying the roles of genes and the environment with thrombosis risk. The translation of this risk information to clinical practice is a challenging one in the setting of a rapidly expanding knowledge base that includes application of genetic medicine. There are benefits, but also potential harms, of testing for inherited disorders associated with thrombosis. This paper reviews inherited risk factors for thrombosis and discuss clinical applications of testing.

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“…However, the riskfactors behave synergistically, so that a woman, who has FVL and is on the Pill, has a 30-40 fold increased chance of having a DVT, even if this chance is still small in absolute terms (see Middeldorp, 2001, Bauer, 2001). The main reason why individuals are referred to the test for FVL or the other thrombophilia markers is to avoid situations where several risk-factors coincide, such as advising people with the predisposition not to go on the combined Pill and to take special precautions in high-risk situations, such as during long flights, or during and after surgery or pregnancy.…”

Section: Thrombophilia As a Genomic Conditionmentioning

confidence: 99%

Genomic susceptibility‐testing and pregnancy: something old, something new

Saukko

2004

New Genetics and Society

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A Prospective Study of Asymptomatic Carriers of the Factor V Leiden Mutation To Determine the Incidence of Venous Thromboembolism

Abstract: The absolute annual incidence of spontaneous venous thromboembolism in asymptomatic carriers of the factor V Leiden mutation is low and does not justify routine screening of the families of symptomatic patients.

Cited by 180 publications

References 19 publications

Are genetic tests exceptional? Lessons from a qualitative study on thrombophilia

Are genetic tests exceptional? Lessons from a qualitative study on thrombophilia

Inherited Risk Factors for Venous Thrombosis

Genomic susceptibility‐testing and pregnancy: something old, something new

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