First diagnosis of factor XI deficiency in a patient with subarachnoid haemorrhage

Abstract

Aneurismal subarachnoid haemorrhage (SAH) is a devastating event affecting patients at a fairly young age and accounting for significant morbidity and mortality. Although there is progress concerning diagnostic methods and treatment, this case report might add interesting data to the current understanding of this disease and its clinical management with respect to circumstantial deficiency of the coagulation factor XI (FXI). In this report, we present a unique case of aneurismal SAH in a patient with underlying coagulation FXI deficiency which was incidentally identified after patient's admission, as routine blood tests revealed increased activated partial thromboplastin time. Despite early successful treatment with coiling, the patient had a second episode of SAH a few months after his discharge, due to aneurysm revascularization and rupture. Molecular analysis and identification of new mutations were performed. We describe management of SAH with respect to a coexisting bleeding disorder; also testing of patient's family members for FXI deficiency and decisions about screening for intracranial aneurysm are described. Late complications of SAH are - among others - aneurysm revascularization and rebleeding. Although FXI deficiency could be considered an exacerbating factor, it cannot be definitely implicated.