HYPERCOAGULABLE AND GENETICALLY THROMBOPHILIC PATIENTS WITH CEREBRAL VENOUS THROMBOSIS

ABSTRACT

Introduction Cerebral venous thrombosis (CVT) may occur due to a number of common etiologies such as thromboembolism, atherosclerotic disease, or small vessel disease. When these are ruled out or considered unlikely, a hypercoagulability workup is performed. We describe a series of 30 patients with CVT and medical and/or genetic basis for the underlying hypercoagulable state and thrombophilia. Methods A retrospective review of all CVT cases treated with venous thrombectomy between June 2016 and August 2021 was performed within our institutional, neuroendovascular database. Results Of the 30 patients identified, 18 were associated with a hypercoagulable state and/or thrombophilia. Underlying illness was present in seven (36.8%) patients due to polycythemia vera, systemic lupus erythematosus, a combination of nephrotic syndrome and morbid obesity, a combination of rheumatoid arthritis and diabetes, chronic rejection of a small bowel transplant further complicated by acute renal failure and ARDS, a combination of diabetes, DVT, and a dyslipidemic state, and Covid-19. Hypercoagulable states were identified in seven (36.8%) patients due to elevated Factor VIII (1/ 7), antiphospholipid syndrome (3/7), and Protein S deficiency (3/7). Genetic thrombophilia was identified in four (16.4%) patients in the form of a heterozygous Factor V mutation in R506Q (2/4), a heterozygous Prothrombin Factor II mutation in G20210A (1/4), and a homozygous 4G/4G promoter Plasminogen Activator inhibitor I deletion mutation (1/4). Overall, no subset of hypercoagulability (I.e. mutation, disease, transient state) nor hypercoagulability overall was predictive of outcome as measured by recanalization, discharge disposition, or reocclusion likelihood. Conclusion The most common cause of hypercoagulability was underlying disease or transient antiphospholipid syndrome/elevated pro-coagulation factor. While we are unable to report hypercoagulability as a predictive variable of outcome in our cohort, we outline the presence of various coagulopathies within this medically refractory, CVT cohort. While CVT may occur due to many common pathologies, in cases where the cause is unknown a hypercoagulability workup my shed light on mitigating factors underlying the thrombosis.