Factor V Leiden thrombophilia

Kujovich, Jody L.

doi:10.1097/gim.0b013e3181faa0f2

Cited by 339 publications

(335 citation statements)

References 256 publications

(218 reference statements)

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“…However, in our case Factor V Leiden heterozygosity was not an indication for long-term anticoagulation in accordance with recently published guidelines. 15 …”

Section: Discussionmentioning

confidence: 99%

Asymptomatic superior mesenteric vein thrombosis as unusual complication of acute cytomegalovirus infection: a case report

et al. 2015

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We describe a 39-year-old male who presented with a fever of unknown origin, the diagnostic work-up of which disclosed an acute cytomegalovirus (CMV) infection complicated by a partial superior mesenteric vein (SMV) thrombosis. Further investigations revealed the presence of factor V Leiden mutation. Oral anticoagulant treatment with warfarin led to a complete recanalization of SMV two months after. A literature review on the association between CMV infection and portal system (PS) thrombosis in immunocompetent patients was performed. We found that, in agreement with our case, in a minority of case reports patients did not complain of abdominal pain, but presented with a mononucleosis-like syndrome with malaise and prolonged fever and displayed a variable elevation of aminotransferase levels. Interestingly, most of them exhibited a limited extension of portal thrombosis. On the whole, these data suggest that PS thrombosis during acute CMV infection may be an underestimated complication.

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“…However, in our case Factor V Leiden heterozygosity was not an indication for long-term anticoagulation in accordance with recently published guidelines. 15 …”

Section: Discussionmentioning

confidence: 99%

Asymptomatic superior mesenteric vein thrombosis as unusual complication of acute cytomegalovirus infection: a case report

et al. 2015

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“…Patients known to be affected should follow several clinical recommendations in order to reduce the risk of venous thromboembolism, e.g., avoid immobility, oral contraceptives, change in diet, and increased exercise. The condition is multifactorial and is characterized by exogenous risk factors and endogenous conditions (Kujovich 2011). Of these conditions, APC resistance can be identified by genetic testing.…”

Section: Thrombophilia/factor V Leidenmentioning

confidence: 99%

Patient compliance based on genetic medicine: a literature review

Schneider

Schmidtke

2013

J Community Genet

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For this literature review, medical literature data bases were searched for studies on patient compliance after genetic risk assessment. The review focused on conditions where secondary or tertiary preventive options exist, namely cancer syndromes (BRCA-related cancer, HNPCC/colon cancer), hemochromatosis, thrombophilia, smoking cessation, and obesity. As a counterpart, patient compliance was assessed regarding medication adherence and medical advice in some of the most epidemiologically important conditions (including high blood pressure, metabolic syndrome, and coronary heart disease) after receiving medical advice based on nongenetic risk information or a combination of genetic and nongenetic risk information. In the majority of studies based on genetic risk assessments, patients were confronted with predictive rather than diagnostic genetic profiles. Most of the studies started from a knowledge base around 10 years ago when DNA testing was at an early stage, limited in scope and specificity, and costly. The major result is that overall compliance of patients after receiving a high-risk estimate from genetic testing for a given condition is high. However, significant behavior change does not take place just because the analyte is "genetic." Many more factors play a role in the complex process of behavioral tuning. Without adequate counseling and guidance, patients may interpret risk estimates of predictive genetic testing with an increase in fear and anxiety.

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“…12 Furthermore, studies have indicated a potential association between the FVL mutation and risk of recurrent pregnancy loss (RPL) and other adverse pregnancy outcomes. 13 However, the uncertainty in study findings and strong influence of patient values and preferences for medical treatment during pregnancy have not allowed decision makers to impart strong recommendations on the clinical scenarios that warrant FVL testing and treatment. 9 A risk-benefit analysis of factor V Leiden testing | BAJAJ and VEENSTRA…”

confidence: 99%

“…Although there is some suggestion in current literature that FVL carriers have a higher risk of late pregnancy loss, this differential risk has not been confirmed. 13 Furthermore, we elected not to separately model the postpartum period of pregnancy; although women are known to be at a higher risk of VTE during this period, we focused our analysis on the potential to improve pregnancy outcomes and reduce VTE events during pregnancy-the time period when treatment benefit is less evident. In both cases, a conservative approach was taken.…”

Section: Assumptionsmentioning

confidence: 99%

A risk–benefit analysis of factor V Leiden testing to improve pregnancy outcomes: a case study of the capabilities of decision modeling in genomics

Bajaj

Veenstra

2013

Genetics in Medicine

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Decision-analytic methods are often used in health-care decision making to quantify the anticipated clinical risks and benefits of implementing a proposed intervention. These methods provide a framework for transparently assembling data and estimating the effects of an intervention on health outcomes. 1 Although these methods have been used to assess a multitude of interventions, it is unclear whether they are capable of adequately capturing clinical and personal utility of genomic testing.Specifically, genomic testing in complex indications may be challenging to represent within the context of a traditional decision-analytic framework that uses quality-adjusted lifeyears (QALYs) as a summary measure of benefit. 2 Genomic tests impart knowledge to both the patient and provider. To the extent that this information guides treatment decisions, the impact on health outcomes is relatively straightforward to capture using decision-analytic methods. 3 However, complexity arises due to the inherent value the information obtained from a genomic test may have to the patient. This information has potential to be the source of anxiety or to relieve anxiety, may have implications for reproductive decisions, and has implications for others, as spouses of carriers are affected by the decisions informed with this knowledge and relatives of a mutation-positive patient learn that they have a higher likelihood to be carriers. [4][5][6][7][8] The growing availability and use of genomic tests merit closer examination of the role of decision modeling in assessing the clinical and personal utility of testing.The objective of this study was to explore the capability and flexibility of decision-analytic methods to examine a complex case study involving genomic testing: the use of factor V Leiden (FVL) testing to improve pregnancy outcomes. A genomic test for the FVL mutation has been commercially available since 2003, but recent consensus recommendations differ on the indications that require screening among pregnant women, and the strength of evidence underlying these recommendations is weak. 9,10 The FVL mutation affects an estimated 5% of European Americans, and estimates range from 0.5 to 2.5% among Americans of other ancestries. 11 Heterozygous carriers of the FVL mutation have a three-to eightfold increased risk of experiencing venous thromboembolisms (VTEs) and homozygous carriers are estimated to have a further elevated risk wherein the estimates range from a nine-to 80-fold increased risk as compared with noncarriers. 12 Furthermore, studies have indicated a potential association between the FVL mutation and risk of recurrent pregnancy loss (RPL) and other adverse pregnancy outcomes. 13 However, the uncertainty in study findings and strong influence of patient values and preferences for medical treatment during pregnancy have not allowed decision makers to impart strong recommendations on the clinical scenarios that warrant FVL testing and treatment. 9Purpose: We sought to assess the benefits, risks, and personal utility of fac...

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Factor V Leiden thrombophilia

Cited by 339 publications

References 256 publications

Asymptomatic superior mesenteric vein thrombosis as unusual complication of acute cytomegalovirus infection: a case report

Asymptomatic superior mesenteric vein thrombosis as unusual complication of acute cytomegalovirus infection: a case report

Patient compliance based on genetic medicine: a literature review

A risk–benefit analysis of factor V Leiden testing to improve pregnancy outcomes: a case study of the capabilities of decision modeling in genomics

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