Acquired factor XIII deficiency presenting with multiple intracranial hemorrhages and right hip hematoma: A case report.

IF 1.4 Q3 RADIOLOGY, NUCLEAR MEDICINE & MEDICAL IMAGING

World journal of radiology Pub Date : 2024-09-28 DOI:10.4329/wjr.v16.i9.439

Lei Wang, Ning Zhang, Dong-Cheng Liang, Hao-Ling Zhang, Le-Qing Lin

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引用次数: 0

Abstract

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.

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伴有多发性颅内出血和右髋血肿的获得性 XIII 因子缺乏症：病例报告。

背景：因子 XIII（FXIII）缺乏症是一种罕见但严重的凝血病。FXIII 在止血过程中起着至关重要的作用，该因子缺乏可诱发无节制或自发性出血。检测 FXIII 抑制剂的免疫测定是诊断获得性 FXIII 缺乏症不可或缺的方法；然而，由于合适的检测设施有限，导致这些检测的周转时间延长。病例摘要：在本病例研究中，一名 53 岁的男性患者无明显病史，因反复颅内出血和右臀部血肿就诊。随后的基因分析显示，该患者的 ACE 基因存在同基因突变，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患者时考虑后天凝血因子缺乏症的重要性。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

World journal of radiology RADIOLOGY, NUCLEAR MEDICINE & MEDICAL IMAGING-

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8.00%

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