Hereditary hyperactivity of coagulation factor ix caused by a large fragment gene duplication as a rare etiology of cerebral venous sinus thrombosis

Abstract

Background: Cerebral venous sinus thrombosis (CVST) is a rare cerebrovascular disease with a relatively high mortality and disability, which mainly affects young adults and children. Anticoagulation is currently the mainstay of treatment. Rapid diagnosis and prompt identification of the etiology of CVST are of great significance for the prognosis of this potentially life-threatening condition.

Case presentation: We presented a case of recurrent cerebral venous sinus thrombosis complicated with deep venous thrombosis (DVT) due to a large fragment duplication of the factor IX gene region on the X chromosome in a young adult. Long-term rivaroxaban anticoagulant treatment was suggested, and no thrombosis events occurred under regular follow-up.

Conclusion: Hereditary hyperactivity of coagulation factor IX is one of the relatively rare causes of hereditary hypercoagulability, which often causes venous thrombosis of lower limbs and rarely involves intracranial venous sinus, expanding the spectrum of etiology of this disorder and deserves attention.