Janus Kinase-2 V617F Mutation and Antiphospholipid Syndrome in Cerebral Sinus Venous Thrombosis: Natural History and Retrospective Bicenter Analysis

• DOI: 10.3389/fneur.2022.783795
• Publication Date: 2022-04-14T07:00:55Z
• Authors: David Orion; Ze'ev Itsekson-Ha...; Shlomi Peretz; Rom Mendel; Gal Yaniv; Moshe Attia; Drorit Grizim-Merkel
• Keywords: Etiology

Cerebral sinus venous thrombosis (CSVT) is a rare neurovascular entity, usually associated with acquired or genetic hypercoagulable states. In up to 30% of the cases it remains idiopathic. Bone marrow proliferation disorders that are Janus Kinase 2 V617F mutation (JAK-2) known causes systemic and cerebral thrombosis-at times despite normal blood counts-for which hematologic treatment exists. However, JAK-2 prevalence in CSVT not clear.In this retrospective analysis, data 236 patients admitted two tertiary centers between 2010 2020 were analyzed, emphasis on laboratory imaging clinical interventional outcomes.A total included analysis. The patients' median age was 42 years average 44 (±19 years), 59% female patients. positivity rate 18% (among 77 tested for mutation). Patients counts presentation comprised 36% positive cases. Other hypercoagulability states also investigated, antiphospholipid syndrome (APLA) showing highest (11%) followed by other etiologies including oral contraceptive use, Factor V Leiden, prothrombin mutation, malignancy. Selected JAK-2, APLA, showed more severe course.JAK-2 underdiagnosed its screening may be warranted idiopathic CSVT, even counts, allow disease-modifying cell count monitoring. complicated course.