Wang Lei, Zhang Ning, Liang Dong-Cheng, Zhang Hao-Ling, Lin Le-Qing
Department of Intensive Care Medicine, Hangzhou Normal University Affiliated Hospital, Hangzhou 310015, Zhejiang Province, China.
Department of Biomedical Science, Advanced Medical and Dental Institute, University Sains Malaysia, Penang 13200, Malaysia.
World J Radiol. 2024 Sep 28;16(9):439-445. doi: 10.4329/wjr.v16.i9.439.
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.
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 gene, confirming the diagnosis of acquired FXIII deficiency.
This case underscores the significance of considering acquired deficiencies in clotting factors when evaluating patients with unexplained bleeding episodes.
凝血因子 XIII(FXIII)缺乏症是一种罕见但严重的凝血病。FXIII 在止血过程中起关键作用,该因子缺乏可导致不受控制的出血或自发性出血。检测 FXIII 抑制剂的免疫测定对于诊断获得性 FXIII 缺乏症必不可少;然而,合适检测设施的可用性有限,导致这些测定的周转时间延长。
在本病例研究中,一名无重大病史的 53 岁男性出现复发性颅内出血和右髋部血肿。随后的基因分析显示该基因存在纯合突变,确诊为获得性 FXIII 缺乏症。
本病例强调了在评估不明原因出血发作的患者时考虑凝血因子获得性缺乏的重要性。