Genetic Susceptibility to Venous Thrombosis

Seligsohn, Uri; Lubetsky, Aharon

doi:10.1056/nejm200104193441607

Cited by 733 publications

(533 citation statements)

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“…19 In our study, in which patients were re-examined 1 to 18 years after the first DVT episode (median five years), we observed a high rate of DVT recurrence: 36% and 32% in the TG and CG respectively. Four thrombophilic patients had rethrombosis while on increasing the risk of thrombotic events by five to ten times in heterozygotic carriers and more than ten times in homozygotic patients, 6,11 especially in association with other risk factors such as advanced age (over 65) or oral contraceptive use, 7,9,15,29 which was the second most common risk factor in our patient sample.…”

Section: Discussionmentioning

confidence: 66%

“…The incidence of spontaneous thromboembolism in patients with these deficiencies is estimated at 0.4% per year, while the rate for secondary thromboembolisms associated with other triggering risk factors increases to between 8.1% and 10%. 6,10,11 The most common of these is the factor V R306Q mutation (FV Leiden) which causes resistance to the action of PC, appearing in 1 to 15% of the general population and in 10 to 50% of patients with VTE. 12,13 The G20210A polymorphism of the prothrombin gene is associated with increased plasma prothrombin levels and is present in 1 to 3% of individuals in the general population and 6 to 18% of patients with VTE.…”

Section: Introductionmentioning

confidence: 99%

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Long-term clinical and ultrasonographic evaluation of thrombophilic patients with deep venous thrombosis

et al. 2014

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Objective: The purpose of this study was to evaluate the long term clinical and ultrasonographic outcomes of thrombophilic patients with deep venous thrombosis (DVT). Method: Cohort study, retrospective case-control with cross-sectional analysis. Thirty-nine thrombophilic patients and 25 non-thrombophilic patients were assessed 76.3 ± 45.8 months after diagnosis. Demographic and family data were collected, as well as data from clinical and therapeutic progress, and physical and ultrasound examinations of the limbs were performed. Groups were matched for age and gender and the variables studied were compared across groups. Results: Deep venous thrombosis was more frequent in women. The most common thrombophilias were antiphospholipid syndrome and factor V Leiden mutation. There was no difference between groups in terms of the number of pregnancies or miscarriages and the majority of women did not become pregnant after DVT. Non-spontaneous DVT prevailed. Proximal DVT and DVT of the left lower limb were more frequent, and the main risk factor was use of oral contraceptives. All patients were treated with anticoagulation. There was a higher frequency of pulmonary embolism in non-thrombophilic patients. Most patients considered themselves to have a "normal life" after DVT and reported wearing elastic stockings over at least 2 years. Seventy-one percent of patients had CEAP ≥ 3, with no difference between groups. Deep venous reflux was more frequent in thrombophilic patients. Conclusion: There were no significant differences between groups with respect to most of the variables studied, except for a higher frequency of pulmonary embolism in non-thrombophilic patients and greater frequency of deep venous reflux in thrombophilic patients.Keywords: deep vein thrombosis; thrombophilia; postthrombotic syndrome; pulmonary embolism; duplex scan. ResumoObjetivo: A proposta deste estudo foi realizar a avaliação clínica e ultrassonográfica em longo prazo de pacientes com diagnóstico de trombose venosa profunda (TVP), portadores de trombofilia. Método: estudo coorte, caso-controle retrospectivo com análise transversal. Foram estudados 39 pacientes portadores de trombofilia (PT) e 25 pacientes não portadores de trombofilia (PNT), dentro de um intervalo de tempo de 76,3 ± 45,8 meses, após o diagnóstico de TVP. Foram coletados dados demográficos e antecedentes familiares, assim como dados referentes à evolução clínica e terapêutica, tendo sido realizado também exame físico e ultrassonográfico dos membros envolvidos. Os grupos foram pareados quanto à idade e ao sexo, e as variáveis estudadas foram comparadas entre os grupos. Resultados: TVP foi mais frequente em mulheres. As trombofilias mais comumente encontradas foram a síndrome antifosfolípide e a mutação do fator V Leiden. Não houve diferença entre os grupos considerando-se o número de gestações e abortamentos, e a maioria das mulheres não engravidou após o episódio de TVP. A TVP não espontânea prevaleceu. A TVP proximal e em membro inferior esquerdo foi a mais frequente,...

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Section: Discussionmentioning

confidence: 66%

Section: Introductionmentioning

confidence: 99%

Long-term clinical and ultrasonographic evaluation of thrombophilic patients with deep venous thrombosis

et al. 2014

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“…Most of these genetic variations are risk factors for venous thrombosis and have minor role in arterial thrombosis: protein C, protein S and antithrombin deficiencies, activated protein C (APC) resistance mainly due to factor V Leiden mutation, and factor II G20210A mutation [16]. More recently, other inherited defects have been suspected to play a role in arterial thrombosis: platelet receptor polymorphisms (C807T allele of GPIa/IIa, HPLA1 and HPLA2 of GPIIIa, GPIb alpha), hyperhomocysteinemia due to mutation C677T of 5, 10-methylenetetrahydrofolate reductase (MTHFR) gene, and cystathionine β synthetase deficiency, as well as high levels of factors VII and VIII.…”

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confidence: 99%

Screening for genetic and acquired thrombophilia in a cohort of young migrainous patients

et al. 2003

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Growing evidence suggests a possible relationship between migraine and thrombotic risk factors. The aim of this study was to analyze the possible relationship between migraine and acquired and genetic thrombophilia in a young population. We compared 16 migrainous adolescents, 12 children with tension-type headache, and controls in terms of frequencies of prothrombotic polymorphisms (factor V Leiden, C677T mutation of 5,10 methylenetetrahydrofolate reductase, G20210A mutation of prothrombin), platelet aggregability, anticoagulant antibodies, blood lipid pattern, serum folate and vitamin B12 levels, homocysteinemia, coagulation parameters, and family history for migraine and precocious thrombotic events. This study confirms the link between migraine and increased platelet responsiveness. Overall, 62.5% of migrainous patients carried at least three thrombophilic factors. Our preliminary data suggest that, in order to assess prevention strategies, it could be appropriate to perform a complete thrombophilia screening in young patients suffering from migraine and with a family history of thrombosis.

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“…Other risk factors are placement of a central venous catheter, infection, trauma, medications (Lasparaginase, OCP), chronic medical illness (nephrotic syndrome, malignancy), pregnancy, immobilisation and hereditary factors [4]. Among hereditary factors, factor V Leiden mutation found to be the commonest cause [6]. Molecular basis of protein 'C' deficiency has been studied extensively.…”

Section: Discussionmentioning

confidence: 99%