Thrombophilic states

Cerebral venous sinus thrombosis (CVST) is a rare life-threatening disease with an estimated annual incidence of three to four cases per million in adults and seven cases per million in neonates. Brain tumors, cerebral infections or traumas, oral contraceptive use, pregnancy, and puerperium are established risk factors for CVST but in 15-20% of patients the disease is apparently unprovoked, i.e., occurring in the absence of predisposing factors. In the last decade there has been increasing evidence that early diagnosis and anticoagulant treatment reduce morbidity of CVST and improve survival. However, the optimal duration of anticoagulant treatment is not well established, because limited information is available on the rate of CVST recurrence after anticoagulant discontinuation. Thrombophilia is a hypercoagulable state leading to a thrombotic tendency, and young patients with CVST, either provoked or unprovoked, deserve investigation. Thrombophilic abnormalities can be inherited (deficiency of the natural anticoagulant proteins antithrombin, protein C, or protein S, mutations in the factor V gene (factor V Leiden) or prothrombin gene (prothrombin G20210A)), acquired (antiphospholipid antibodies), or "mixed," i.e., either congenital or acquired (hyperhomocysteinemia). The risk of thrombosis is different according to each abnormality. The aim of this chapter is to review the literature about the role of thrombophilia in CVST and to give suggestions for management of the disease.