G20210A PRTH Gene Mutation and Other Trombophilic Polymorphisms in Patients With Cerebral Vein Thrombosis

Madonna, Pasquale; Stefano, V. De; Coppola, Antonio; Albisinni, Rosina; Cerbone, Anna Maria

doi:10.1161/01.str.31.7.1785-c

Cited by 13 publications

(9 citation statements)

References 8 publications

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“…3,14 Young and coworkers 15 have reported a striking predilection for central nervous system thrombosis in children with this variant. Studies evaluating the prothrombin variant in CVT report frequencies varying from 0 to 50% 16,17 with most studies finding it to be significant risk factor for CVT. [18][19][20][21][22] The differences in the frequencies reported in these studies might be explained by ethnic differences in the study group.…”

Section: Discussionmentioning

confidence: 99%

The prothrombin gene G20210A variant and puerperal cerebral venous and sinus thrombosis in South Indian women

Nagaraja

Kruthika-Vinod

Christopher

2007

Journal of Clinical Neuroscience

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Section: Discussionmentioning

confidence: 99%

The prothrombin gene G20210A variant and puerperal cerebral venous and sinus thrombosis in South Indian women

Nagaraja

Kruthika-Vinod

Christopher

2007

Journal of Clinical Neuroscience

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“…A total of 20 case-control studies obtained the highest score on the NOS (8 or 9 stars) and included consecutive unselected patients; these studies were included in our metaanalyses. 38,40,44,[46][47][48][49][50][51]53,55,56,[59][60][61][62][63][64][65]67 We did not perform a meta-analysis on the following thrombophilic factors due to the limited number of available studies: high factor VIII levels (n ¼ 1), JAK2 V617F mutation (n ¼ 1), antiphospholipid syndrome (presence of anticardiolipin antibodies (n ¼ 2), antiphospholipid (n ¼ 1) or anti-β 2 glycoprotein antibodies (n ¼ 0), and/or lupus anticoagulant (n ¼ 2), and PAI-1 polymorphisms (n ¼ 1).…”

Section: Meta-analyses Of Case-control Studiesmentioning

confidence: 99%

“…Overall 18 studies evaluating the role of the factor V Leiden mutation for the risk of CVT included 919 cases and 3,168 healthy controls. 38,40,44,[46][47][48][49][50]53,55,56,59,[61][62][63][64][65]67 Compared with controls, the pooled OR for CVT was 2.89 (95% CI: 2.10-3.97; p < 0.001; ►Fig. 2).…”

Section: Factor V Leiden Mutationmentioning

confidence: 99%

Cerebral Venous Thrombosis and Thrombophilia: A Systematic Review and Meta-Analysis

Lauw

Barco

Coutinho

et al. 2013

Semin Thromb Hemost

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Cerebral venous thrombosis (CVT) is a rare manifestation of venous thromboembolism (VTE) and stroke. The aim of our systematic review was to provide an updated summary of the strength of association between CVT and thrombophilia and to explore the relevance of thrombophilia for recurrence of CVT or other VTE, or other outcome variables. MEDLINE (via PubMed), EMBASE (via Ovid), and CENTRAL were systematically searched, including references of retrieved articles. Cohort studies of ≥ 40 patients and case-control studies comparing the prevalence of thrombophilia in patients with CVT and unrelated controls were eligible. Two reviewers independently selected studies, assessed quality, and extracted data. A meta-analysis was performed for high quality case-control studies with unselected cases and healthy controls. Odds ratios with 95% confidence intervals were calculated and pooled. We included 23 cohort studies and 33 case-control studies. A significant association was demonstrated between CVT and all inherited thrombophilic factors, as well as increased levels of homocysteine. Inconclusive results were found on the relevance of thrombophilia for recurrent CVT or other VTE. Although there is a strong association between CVT and thrombophilia, the clinical relevance of thrombophilia testing in patients with CVT seems limited, similarly to other forms of VTE.

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“…Contact with the experts and manual review of references did not reveal any additional studies. Nine of the 26 studies were subsequently excluded for the following reasons: 8 did not meet inclusion criteria 27,28,33,34,36,40,42,44 and 1 contained duplicate data. 25 Seventeen studies were therefore included in our systematic review.…”

Section: Study Identification and Selectionmentioning

confidence: 99%

Thrombophilic abnormalities, oral contraceptives, and risk of cerebral vein thrombosis: a meta-analysis

Dentali

Crowther

Ageno

2006

Blood

232

142

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Recent studies suggest that thrombophilic abnormalities and the use of oral contraceptives (OCs) are the leading causes of cerebral vein thrombosis (CVT). The purpose of this study was to assess the association between CVT and thrombophilic states, OCs, and their interaction. For data sources, we used the MEDLINE, EMBASE, and Cochrane Library databases (January 1994 to March 2005), reference lists of retrieved articles, and contact with content experts. We selected studies comparing the prevalence of OC use and the prevalence of prothrombitic abnormalities in patients with CVT compared with healthy controls. Two reviewers independently selected studies and extracted study characteristics, quality, and outcomes. Odds ratios (ORs) were calculated for each trial and pooled using the Mantel-Haenszel method. Seventeen studies were included. There was an increased risk of CVT in patients using OCs (OR 5.59; 95% confidence interval [CI] 3.95 to 7.91; P < .001), and in patients with factor V Leiden (OR 3.38; 95% CI 2.27 to 5.05; P < .001), with mutation G20 210A of prothrombin (OR 9.27; 95% CI 5.85 to 14.67; P < .001) and with hyperhomocysteinemia (OR 4.07; 95% CI 2.54 to 6.52; P < .001). We concluded that OC users, and patients with factor V Leiden, the prothrombin G20 120A mutation, and hyperhomocysteinemia are at a significantly increased risk of CVT. (Blood. 2006;

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G20210A PRTH Gene Mutation and Other Trombophilic Polymorphisms in Patients With Cerebral Vein Thrombosis

Cited by 13 publications

References 8 publications

The prothrombin gene G20210A variant and puerperal cerebral venous and sinus thrombosis in South Indian women

The prothrombin gene G20210A variant and puerperal cerebral venous and sinus thrombosis in South Indian women

Cerebral Venous Thrombosis and Thrombophilia: A Systematic Review and Meta-Analysis

Thrombophilic abnormalities, oral contraceptives, and risk of cerebral vein thrombosis: a meta-analysis

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