Prevalence of Three Prothrombotic Polymorphisms

Genoud, Valeria; Castañon, Mercedes; Annichino‐Bizzacchi, Joyce Maria; Korín, Jorge; Kordich, L

doi:10.1016/s0049-3848(00)00314-5

Cited by 15 publications

(3 citation statements)

References 21 publications

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“…Higher prevalence have been reported in southern Europe in which PTHR G20210A is the most prevalent heritable PD, with a rate between 3.0% in Italy and 6.5% in Spain among the general population [13,15,16]. Its prevalence (2.6%) in Argentina is comparable to that in southern Europe [17]. Our result in the control group (9%) is higher than in these studies.…”

Section: Discussioncontrasting

confidence: 63%

“…The prevalence of TT677 homozygosity in Taiwanese healthy controls (6%) and venous PD patients (8%) are not apparently different from rates reported in Caucasians (5–12%) and Japanese populations [22]. Its prevalence in Italy ranges from 16% to 21%, which correlates with results from an Argentinian population (16%) [13, 17, 23]. It was found in a relatively high percentage in another South American country, Colombia (25%) [24].…”

Section: Discussionmentioning

confidence: 73%

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Prevalence of Prothrombotic Abnormalities in Patients with Acute Mesenteric Ischemia

et al. 2005

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Acute mesenteric ischemia (AMI) is a rare condition that may be associated with a variety of congenital prothrombotic disorders (PDs). The purpose of this study was to assess the prevalence of these disorders in 28 AMI patients compared with 103 healthy individuals from the northeastern region of Turkey. They were screened for protein C, antithrombin III, and protein S deficiencies; and gene analysis was performed using the polymerase chain reaction. A PD was revealed in 16 (57%) patients and 33 (32%) controls (p = 0.020). Factor V Leiden (FVL), prothrombin G20210A mutation, and TT677 homozygous mutation of methylenetetrahydrofolate reductase was detected in 10 (36%) patients versus 16 (15%) controls (p = 0.035), 3 (11%) patients versus 10 (9%) controls (p = 1.00), and 1 (3%) patient versus no controls, respectively. Consistent with caucasian ethnic groups, there was high prevalence of PDs, especially FVL; and these abnormalities might be a significant predisposing factor in the pathogenesis of AMI.

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Section: Discussioncontrasting

confidence: 63%

Section: Discussionmentioning

confidence: 73%

Prevalence of Prothrombotic Abnormalities in Patients with Acute Mesenteric Ischemia

et al. 2005

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“…Pulmonary embolism is an acute complication that occurs in approximately 20% of DVT cases. 18 It is potentially fatal, especially in cases of recurring VTE; in which 5% of patients run this risk. 19 The post-thrombotic syndrome (PTS) is a chronic complication with a mortality rate of almost zero.…”

Section: Introductionmentioning

confidence: 99%

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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Primary upper‐extremity deep vein thrombosis: High prevalence of thrombophilic defects

et al. 2004

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Primary deep venous thrombosis of the upper extremity (UEDVT) is an unusual disorder. Limited data are available on the contribution of hypercoagulable status in the pathogenesis of this disease. This study aims to report the prevalence of inherited and acquired thrombophilic risk factors (TF) in patients with primary (effort-related and spontaneous) UEDVT. From 1993 to 2002, 31 patients (17 females, median age 38.8 years, range 16-60 years; and 14 males, median age 31.4 years, range 20-56 years) with primary UEDVT (n = 15 effort-related and n = 16 spontaneous) were referred for screening of hypercoagulable status. Nineteen (61.3%) patients had at least one coagulation abnormality. The most common acquired TF were antiphospholipid antibodies (31% lupus anticoagulant and 12.9% anticardiolipin antibodies). Factor V Leiden (12.9%) and prothrombin G20210A mutation (20%) were the most prevalent genetic risk factors. Five patients (16.1%) had high plasma homocysteine levels, and one patient (4.7%) had protein S deficiency. Effortrelated UEDVT was associated with male gender (P = 0.04) and younger age (P = 0.02). There was no significant difference in the prevalence of acquired or inherited TF between patients with effort-related or spontaneous UEDVT. A local anatomic abnormality was detected in seven patients (22.5%), and the prevalence of TF was significantly lower within this group (P = 0.006). The incidence of TF in patients without an anatomic abnormality was 75% (RR 5.25). This study found a high prevalence of an underlying thrombophilic status in spontaneous and effort-related UEDVT. Hypercoagulable status may play a significant role in both groups. Screening for local anatomical abnormalities and thrombophilia should be included in the evaluation of primary UEDVT. Am.

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Prevalence of Three Prothrombotic Polymorphisms

Cited by 15 publications

References 21 publications

Prevalence of Prothrombotic Abnormalities in Patients with Acute Mesenteric Ischemia

Prevalence of Prothrombotic Abnormalities in Patients with Acute Mesenteric Ischemia

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

Primary upper‐extremity deep vein thrombosis: High prevalence of thrombophilic defects

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