Hereditary thrombophilias and their role in the etiology of cerebral venous thrombosis

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.

Keywords

• cerebral venous thrombosis
• epidemiology
• romania
• prospective observational study
• hereditary thrombophilia
• genetics