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Rare inherited antithrombin deficiency presenting as spontaneous cerebral venous thrombosis with concomitant
Hanlei Zhou1, Li Yin1, Libin Zhang1
1Department of Vascular Surgery, The Second Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou, China.
Abstract:
Inherited antithrombin deficiency (IATD) is a rare thrombophilia that predisposes individuals to venous thromboembolism (VTE), though its presentation as spontaneous cerebral venous thrombosis (CVT) is exceedingly uncommon. We report the case of a 27-year-old woman with IATD who developed CVT complicated by bilateral frontal lobe hemorrhage. The initial manifestation of intracranial hemorrhage posed a significant diagnostic and therapeutic dilemma, as it often contraindicates anticoagulation. This case highlights that in the context of CVT, concomitant hemorrhage should not be considered an absolute contraindication to anticoagulant therapy. Our experience underscores the critical importance of a comprehensive diagnostic workup, including thrombophilia screening, in young patients with unprovoked thrombosis at unusual sites. Furthermore, our experience suggests that direct oral anticoagulants (DOACs) could potentially serve as an effective and safe long-term therapeutic option for individuals with IATD, though this hypothesis requires further validation in larger cohorts.
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