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作 者:Lei Wang Ning Zhang Dong-Cheng Liang Hao-Ling Zhang Le-Qing Lin
机构地区:[1]Department of Intensive Care Medicine,Hangzhou Normal University Affiliated Hospital,Hangzhou 310015,Zhejiang Province,China [2]Department of Biomedical Science,Advanced Medical and Dental Institute,University Sains Malaysia,Penang 13200,Malaysia
出 处:《World Journal of Radiology》2024年第9期439-445,共7页世界放射学杂志(英文)
基 金:Supported by the Medical and Health Science Foundation of Zhejiang,No.2023KY186;Hangzhou Science and Technology Development Plan Guide Project,No.20220919Y023;the Hangzhou Medical Key Discipline Construction Program,No.2021.
摘 要:BACKGROUND Factor XIII(FXIII)deficiency is a rare yet profound coagulopathy.FXIII plays a pivotal role in hemostasis,and deficiencies in this factor can precipitate unchecked or spontaneous hemorrhaging.Immunological assays for detecting FXIII inhibitors are indispensable for diagnosing acquired FXIII deficiency;however,the availability of suitable testing facilities is limited,resulting in prolonged turnaround times for these assays.CASE SUMMARY In this case study,a 53-year-old male devoid of significant medical history presented with recurrent intracranial hemorrhages and a hematoma in the right hip.Subsequent genetic analysis revealed a homozygous mutation in the ACE gene,confirming the diagnosis of acquired FXIII deficiency.CONCLUSION This case underscores the significance of considering acquired deficiencies in clotting factors when evaluating patients with unexplained bleeding episodes.
关 键 词:Factor XIII deficiency HEMATOMA SPONTANEOUS Bleeding disorder Intracranial hemorrhages Case report
分 类 号:R743[医药卫生—神经病学与精神病学]
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