Combined heterozygosity of factor V Leiden and the G20210A prothrombin gene mutation in a patient with cerebral cortical vein thrombosis

Liu, Xiaoyuan; Gabig, Theodore G.; Bang, Nils U.

doi:10.1002/1096-8652(200007)64:3<226::aid-ajh17>3.0.co;2-f

Cited by 9 publications

(2 citation statements)

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“…The proportion of MTHFR mutation in our cohort is one of the highest reported. 20 – 22 There have been conflicting reports of the most common site of thrombosis, but the transverse and superior sagittal sinuses appear to be the most frequently involved. 1 , 2 , 23 Our finding that transverse sinus was most often affected chimes with the published literature, but it was notable that the majority of our patients had multiple sinus involvement.…”

Section: Discussionmentioning

confidence: 99%

Clinical associations, biological risk factors and outcomes of cerebral venous sinus thrombosis

et al. 2016

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ObjectiveCerebral venous sinus thrombosis (CVST) is a rare cerebrovascular disease affecting young adults. The majority of the patients are female. The aim of this study is to assess the clinical associations, risk factors and outcomes of the patients with CVST.MethodsThe data of 75 patients with CVST admitted to our hospital between 2006 and 2016 were reviewed. Demographic and clinical features and the thrombophilic risk factors of the patients were recorded. The localizations of the thrombi were determined and modified Rankin score at the time of onset and discharge were calculated.ResultsThe majority of our patients (78.7%) were female. Median age was 35 years (16–76). The most common symptom was headache (86.7%). In 82.6% of our patients, inherited or acquired risk factors for thrombosis were detected. Transverse sinus was the most common site of thrombosis followed by sigmoid and superior sagittal sinuses. Two thirds of the patients had involvement of multiple sinuses. The patients with the involvement of sagittal sinus had better disability at the time of admittance (p = 0.013) while the number of involved sinuses was correlated worse disability (p = 0.015). The neurologic states in the majority of the patients were improved by the end of the hospitalization period (p = 0.001). There was no significant difference in disability score at discharge between men and women (p = 0.080). No patient with CVST died in the hospitalization period.ConclusionsThis study is one of the largest cohort studies on CVST in our region. The results of the study disclosed that CVST had wide range of clinical manifestations and non-specific symptoms at the beginning. For that reason, in especially high risk groups for thrombosis, the diagnosis of CVST should be kept in mind.

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Section: Discussionmentioning

confidence: 99%

Clinical associations, biological risk factors and outcomes of cerebral venous sinus thrombosis

et al. 2016

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“…Esta mutação é a segunda mais comum trombofilia genética identificada, atrás apenas da mutação do fator V 5 . Sua relação com trombose venosa cerebral já é bem estabelecida na literatura [6][7][8][9] , e os portadores desta mutação são candidatos a anticoagulação por toda a vida devido ao risco de trombose recorrente. De forma diferente, a mutação do fator V não está bem definida como fator de risco isolado para trombose venosa recorrente 6 .…”

Section: Discussionunclassified

Trombose de seio venoso cerebral e trombose sistêmica associadas à mutação do gene 20210 da protrombina: relato de caso

Milano

Arruda

Nikosky

et al. 2003

Arq. Neuro-Psiquiatr.

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RESUMO -Trombose venosa cerebral é entidade de grande gravidade se não identificada e tratada precocemente. As etiologias são diversas e seu reconhecimento pode ditar o tratamento e o prognóstico dos pacientes. Mutações genéticas têm sido envolvidas, principalmente a mutação do gene 20210 da protrombina. Relatamos o caso de homem, 53 anos, admitido em estado de mal convulsivo. Não apresentava antecedentes mórbidos pessoais ou familiares. Negava vícios. Após controle das crises, apresentava papiledema bilateral, e exame neurológico normal. Tomografia computadorizada revelou transformação hemorrágica de área de infarto venoso parieto-temporal direita. Punção lombar com manometria de 500 mmH 2 O revelou exame de líquor normal. Angiografia por ressonância magnética demonstrou trombose de seio sagital superior, transverso e sigmóide à direita. Mesmo em vigência de anticoagulação, apresentou trombose venosa profunda de membro inferior direito dois meses após o primeiro evento. A investigação etiológica foi totalmente negativa, e teste genético revelou mutação do gene 20210 da protrombina. A anticoagulação foi ajustada para RNI de 3,5 às expensas de 25mg diários de warfarin. Exames de controle revelaram reperfusão da circulação venosa cerebral, e paciente encontra-se assintomático.PALAVRAS-CHAVE: trombose venosa cerebral, mutação genética, protrombina. Cerebral and systemic venous thrombosis associated to prothrombin G20210 mutation: case reportABSTRACT -Cerebral venous thrombosis is a clinical condition of difficult diagnosis, and poor prognosis when treatment is not started early. There is a long list of causes, and hereby we describe a case associated to prothrombin G20210 mutation. A 53-year-old man, white, was admitted with status epilepticus. After seizures control, he developed intracranial hypertension, with headache and vomiting, and bilateral papilledema. His past medical and familial history were unremarkable. He was a nonsmoker, no drug and alcohol user. CT scan and MRI showed right temporal and parietal infarct with hemorrhagic transformation. Spinal tap with opening pressure of 500 mH 2 O showed normal CSF examination. MRI angiography disclosed superior sinus, right transverse and sigmoid sinus complete thrombosis. He was started with heparin and oral warfarin. In spite of anticoagulation, two months later he developed deep right inferior limb thrombosis. All the initial tests were normal, and test for prothrombin G20210 mutation was positive. He needed a much higher than conventional daily dose of warfarin to keep him asymptomatic.KEY WORDS: cerebral venous thrombosis, prothtombin, genetic mutation. A trombose venosa cerebral é entidade de diagnóstico por vezes difícil e de prognóstico reservado se não diagnosticada e tratada precocemente. As etiologias são diversas e seu reconhecimento pode ditar o tratamento e o prognóstico dos pacientes acometidos. Mutações genéticas têm sido associadas a trombose de seio, sendo a principal delas mutação do gene 20210A da protrombina.Relatamos o caso de um paciente co...

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The clinical characteristic, diagnosis, treatment, and prognosis of cerebral cortical vein thrombosis: a systematic review of 325 cases

Song

Lan

et al. 2020

J Thromb Thrombolysis

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Combined heterozygosity of factor V Leiden and the G20210A prothrombin gene mutation in a patient with cerebral cortical vein thrombosis

Abstract: Cerebral venous thrombosis (CVT) is

Cited by 9 publications

References 12 publications

Clinical associations, biological risk factors and outcomes of cerebral venous sinus thrombosis

Clinical associations, biological risk factors and outcomes of cerebral venous sinus thrombosis

Trombose de seio venoso cerebral e trombose sistêmica associadas à mutação do gene 20210 da protrombina: relato de caso

The clinical characteristic, diagnosis, treatment, and prognosis of cerebral cortical vein thrombosis: a systematic review of 325 cases

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