Recurrent vital thrombotic events in a young man with FVIII gene duplication

作     者：Ling-Li Wang Dan Liu Na Feng Mu-Ye Ping Jiang-Li Han Wei Gao Fang-Fang Wang Wang Ling-Li;Liu Dan;Feng Na;Ping Mu-Ye;Han Jiang-Li;Gao Wei;Wang Fang-Fang

作者机构：Department of Cardiology and Institute of Vascular MedicinePeking University Third HospitalNHC Key Laboratory of Cardiovascular Molecular Biology and Regulatory PeptidesKey Laboratory of Molecular Cardiovascular ScienceMinistry of EducationBeijing Key Laboratory of Cardiovascular Receptors ResearchBeijing 100191China Department of Laboratory MedicinePeking University Third HospitalBeijing 100191China 

出 版 物：《Chinese Medical Journal》 (中华医学杂志（英文版）)

年 卷 期：2021年第134卷第8期

页      面：996-998页

核心收录：

学科分类：1002[医学-临床医学] 10[医学] 

基　　金：the Major State Research Development Program of China(No.2017YFC0908701) the National Natural Science Foundation of China(No.81400262). 

主　　题：diseases cerebral coronary 

摘      要：To the Editor:The coagulation system is a complex regulatory system in the human body.In this case,the young patient had various vital thrombosis,including cerebral venous sinus thrombosis(CVST),coronary thrombosis,and left ventricular thrombus.However,the patient had neither hypercoagulable-related diseases nor risks nor coagulative or fibrinolytic protein deficiency.[1] Further genetic testing did not show the usual gene mutations relevant to coagulation dysfunction.W e report such a patient with a slight elevation in coagulation FVIII activity and a rare FVIII gene duplication.