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

Lauw, Mandy N.; Barco, Stefano; Coutinho, Jonathan M.; Middeldorp, Saskia

doi:10.1055/s-0033-1357504

Cited by 64 publications

(15 citation statements)

References 44 publications

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“…In patients with cerebral venous thrombosis we found only a significantly higher frequency of the FII G20210A variant respect to the GP, and such data match with two studies [2,30]. While, our data exclude a role of MTHFR and FVL variants that in previous studies had been reported to be associated to a higher risk for the CVT [30,31]. Interestingly, also in CVT (as we observed in PVT) the frequency of FII G20210A is higher in females than in males.…”

Section: Discussionsupporting

confidence: 90%

Molecular analysis of prothrombotic gene variants in venous thrombotic diseases. Different risk factors in different sex and clinical forms.

Cernera¹,

Amato²,

Elce³

et al. 2019

Preprint

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Background The role of prothrombotic gene variants as risk factors for venous thrombotic diseases is controversial and the ordering of tests for thrombophilia in the clinical context is scarcerly respective of evidence-based data. Methods We studied FVL, FVR2, FII G20210A, MTHFR C677T and A1298C, beta-fibrinogen -455 G>A, FXIII V34L, HPA-1 L33P variants and PAI-1 4G/5G alleles in: 343 patients with deep vein thrombosis (DVT), 164 with pulmonary embolism (PE), 126 with superficial vein thrombosis (SVT), 118 with portal vein thrombosis (PVT), 75 with cerebral vein thrombosis (CVT), 119 with retinal vein thrombosis (RVT) in comparison with 430 subjects from the general population (GP) of the same geographical area (Southern Italy). Results About 40% of patients with DVT, PE and SVT have a prothrombotic predisposition represented by FVL, FVR2 and FII G20210A variants (significantly more frequent than in the general population), significantly higher in PE males. While, in patients with PVT and CVT only FII G20210A variant is more frequent particularly in females. Finally, RVT is poorly related to prothrombotic risk factors, confirming that local vascular and other factors have a pivotal role in its pathogenesis. Conclusions Our data indicate that only FVL, FVR2 and FII G20210A are related to vein thrombotic diseases while all the other gene variants, frequently ordered in the clinical context, do not have a role as risk factors. Furthermore, the evidence of a sex difference for some variants, once confirmed in larger populations, may help to promote sex-specific prevention of such diseases.

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Section: Discussionsupporting

confidence: 90%

Molecular analysis of prothrombotic gene variants in venous thrombotic diseases. Different risk factors in different sex and clinical forms.

Cernera¹,

Amato²,

Elce³

et al. 2019

Preprint

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“…Another study indicates that changes in cerebral blood flow correlate better with the mean flow velocity in the basal vein than with arterial flow velocities (Mursch et al, 2001). Besides the thrombophilia after stroke, other brain disorders has been reported to have a strong association with cerebral venous thrombosis (Lauw et al, 2013). Therefore, the venous system is an important contributor for ischemic event after acute brain injury.…”

Section: Vein-mediated Pathophysiology After Acute Brain Injurymentioning

confidence: 99%

Venous system in acute brain injury: Mechanisms of pathophysiological change and function

Chen

et al. 2015

Experimental Neurology

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Cerebral vascular injury is a major component of acute brain injury. Currently, neuroprotective strategies primarily focus on the recanalization of cerebral arteries and capillaries, and the protection of insulted neurons. Hitherto, the role of vein drainage in the pathophysiology of acute brain injury has been overlooked, due to an under appreciation of the magnitude of the impact of veins in circulation. In this review, we summarize the changes in the vein morphology and functions that are known, or likely to occur related to acute brain injury, and aim to advance the therapeutic management of acute brain injury by shifting the focus from reperfusion to another term: recirculation. Recent progress in the neurobiological understanding of the vascular neural network has demonstrated that cerebral venous systems are able to respond to acute brain injury by regulating the blood flow disharmony following brain edema, blood brain barrier disruption, ischemia, and hemorrhage. With the evidence presented in this review, future clinical management of acutely brain injured patients will expand to include the recirculation concept, establishing a harmony between arterial and venous systems, in addition to the established recanalization and reperfusion strategies.

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“…Cerebral venous thrombosis is rare thrombotic condition commonly associated with the presence of thrombophilia[ 1 ]. Prothrombin G20210A is one of the most common thrombophilias associated with venous thrombosis, including cerebral venous thrombosis[ 2 ]. In patients with deep vein thrombosis or pulmonary embolism the prevalence of prothrombin G20210A is highly dependent on the country of origin or ethnicity [ 3 – 7 ] but this variation has not been evaluated in patients with cerebral venous thrombosis.…”

Section: Introductionmentioning

confidence: 99%

Prevalence and Geographical Variation of Prothrombin G20210A Mutation in Patients with Cerebral Vein Thrombosis: A Systematic Review and Meta-Analysis

et al. 2016

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ObjectivesTo compare the prevalence of prothrombin G20210A in patients with objectively confirmed cerebral vein or cortical vein thrombosis against healthy controls, and evaluate geographical variations.DesignSystematic review and meta-analysis of case control studies.MethodsWe conducted a systematic review of electronic databases including MEDLINE and EMBASE. The main outcome was the prevalence of prothrombin G20210A in patients with objectively confirmed cerebral vein or cortical vein thrombosis; we also analyzed individual country variations in the prevalence. The random-effects model OR was used as the primary outcome measure.ResultsIn total 19 studies evaluated 868 cases of cerebral venous thrombosis and 3981 controls. Prothrombin G20210A was found in 103/868 of the patients with cerebral venous thrombosis and 105/3999 of the healthy controls [random effects pooled OR 5.838, 95% CI 3.96 to 8.58; I217.9%]. The prevalence of prothrombin G20210A was significantly elevated in Italian studies (OR 9.69), in Brazilian studies (OR 7.02), and in German studies (OR 3.77), but not in Iranian studies (OR 0.98).ConclusionProthrombin G20210A is significantly associated with cerebral venous thrombosis when compared to healthy controls, although this association is highly dependent on the country of origin.

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

Cited by 64 publications

References 44 publications

Molecular analysis of prothrombotic gene variants in venous thrombotic diseases. Different risk factors in different sex and clinical forms.

Molecular analysis of prothrombotic gene variants in venous thrombotic diseases. Different risk factors in different sex and clinical forms.

Venous system in acute brain injury: Mechanisms of pathophysiological change and function

Prevalence and Geographical Variation of Prothrombin G20210A Mutation in Patients with Cerebral Vein Thrombosis: A Systematic Review and Meta-Analysis

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