JAK2 Gene Mutation Associated with Cerebral Infarction: A Case Report and Literature Review

JAK2基因突變與腦梗塞的不尋常關係：病例報告及文獻討論

陳正強(Cheng-Chiang Chen) ； 林志明(Chih-Ming Lin) ； 陳儀敏(I-Ming Chen) ； 陳功深(Chun-Sen Chen)

《中華放射線醫學雜誌》 34卷3期 (2009/09) Pp. 185-189

摘要

我們報導一位71歲女性，她之前有真性紅血球增多症。這次住院的原因是因為反覆中風；縱使在用完抗血小板劑及放血治療後仍然無效。腦部檢查發現他有右側頸動脈狹窄的問題。在我們把抗血小板劑換成抗凝血劑之後她的中風情況大有改善。在這篇文章裡面我們討論了血液黏綢（JAK2基因突變）及中風本身的關係，其中的生理病理均有論述。

並列摘要

We report a 71-year-old Taiwanese woman with polycythemia vera (PV) presenting with repeated ischemic cerebral infarctions culminating in total occlusion of the right internal carotid artery despite antiplatelet prophylaxis and regular phlebotomy to reduce blood viscosity. Only after the treatment was changed from antiplatelet therapy to anticoagulation for secondary prophylaxis was the chain of recurrent cerebrovascular events was broken. JAK2 gene mutation is hypothesized to play a major role in the interaction between blood hyperviscosity and ischemic stroke. Weather, it can enhance cascade of coagulopathy resulting susceptibility toward stroke, is still unclear and under close investigation. This report delineates the necessity of using anticogualant medication to treat PV patients with positive JAK2 mutation. Its complex interplay in hypercoagulopathy and possible thromboembolic event is dicussed.