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.
References
- Ropper AH, Klein JP. Cerebral Venous Thrombosis. N Engl J Med. 2021 Jul 1;385(1):59-64.
- Zögg T, Brandstetter H. Activation mechanisms of coagulation factor IX. Biol Chem. 2009 May-Jun;390(5-6):391-400.
- Lowe G. Factor IX and deep vein thrombosis. Haematologica. 2009 May;94(5):615-7.
- van Hylckama Vlieg A, van der Linden IK, Bertina RM, Rosendaal FR. High levels of factor IX increase the risk of venous thrombosis. Blood. 2000 Jun 15;95(12):3678-82.
- Bezemer ID, Arellano AR, Tong CH, Rowland CM, Ireland HA, Bauer KA, et al. F9 Malmö, factor IX and deep vein thrombosis. Haematologica. 2009 May;94(5):693-9.
- Chang J, Jin J, Lollar P, Bode W, Brandstetter H, Hamaguchi N, et al. Changing residue 338 in human factor IX from arginine to alanine causes an increase in catalytic activity. J Biol Chem. 1998 May 15;273(20):12089-94.
- Wang LL, Liu D, Feng N, Ping MY, Han JL, Gao W, et al. Recurrent vital thrombotic events in a young man with FVIII gene duplication. Chin Med J (Engl). 2020 Nov 13;134(8):996-998.
How to Cite
How to Cite
Downloads
Article Details
Most Read This Month
License
Copyright (c) 2023 Han Guangsong, Huang Xinying, Ni Jun, Xu Weihai, Yao Ming
This work is licensed under a Creative Commons Attribution-NoDerivatives 4.0 International License.
