HEREDITARY THROMBOPHILIAS AND THEIR ROLE IN THE ETIOLOGY OF CEREBRAL VENOUS THROMBOSIS

Ioana Cociasu,Ovidiu Alexandru Bajenaru,Eugenia Irene Davidescu

doi:10.37897/rjn.2017.2.5

Abstract

Cerebral venous thrombosis (CVT) is a very rare and particular type of stroke. This disease mainly affects young adults and especially women of childbearing age. We performed a retrospective observational study in which we included all consecutive patients admitted with the diagnosis of cerebral venous thrombosis in the Neurology Department of Colentina Clinical Hospital between October 2013 and May 2017. Inclusion criteria were imaging confirmation of cerebral venous thrombosis either by conventional angiography, computed tomography (CT) with contrast or magnetic resonance imaging (MRI) with venography. Exclusion criteria were limited to age under 18 years old. We performed this study in order to show the genetic profile of the Romanian patient with cerebral venous thrombosis. It is the first prospective observational study performed on this disease in Romania. The results of our study concerning hereditary thrombophilia were in agreement with current data in the literature, especially given the fact that all patients presented at least one mutation. The population of patients we enrolled showed clinical and genetic aspects similar to the known epidemiologic profile of the patient with cerebral venous thrombosis, regarding age of onset, prior or concomitant infections, presence of prothrombotic factors and favourable outcome.

Highlights

AND OBJECTIVESCerebral venous thrombosis (CVT) is a very rare and particular type of stroke
The second most frequent mutation we found among patients with cerebral venous thrombosis was that of the plasminogen activator inhibitor (PAI-1) which was found in over half of our patients (63.6%)
We found striking differences; for example men and women were represented among our patient population, which is atypical considering the fact that women are three times more likely to be affected by cerebral venous thrombosis than men

Summary

Introduction

Cerebral venous thrombosis (CVT) is a very rare and particular type of stroke This disease mainly affects young adults and especially women of childbearing age. Data from the literature suggests that incidence has been rising in the last decade, probably due to increased access to high performance imaging studies [1,2,3,4,5]. This disease has a very diverse range of signs and symptoms, the diagnosis is very often missed due to low clinical suspicion and absence of specific changes on routine imaging studies [6,7]

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