Wang L, Zhang N, Liang DC, Zhang HL, Lin LQ. Acquired factor XIII deficiency presenting with multiple intracranial hemorrhages and right hip hematoma: A case report. World J Radiol 2024; 16(9): 439-445 [PMID: 39355391 DOI: 10.4329/wjr.v16.i9.439]
Corresponding Author of This Article
Le-Qing Lin, PhD, Doctor, Department of Intensive Care Medicine, Hangzhou Normal University Affiliated Hospital, No. 126 Wenzhou Road, Gongshu District, Hangzhou 310015, Zhejiang Province, China. lqxdy83641@21cn.com
Research Domain of This Article
Medicine, General & Internal
Article-Type of This Article
Case Report
Open-Access Policy of This Article
This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
World J Radiol. Sep 28, 2024; 16(9): 439-445 Published online Sep 28, 2024. doi: 10.4329/wjr.v16.i9.439
Acquired factor XIII deficiency presenting with multiple intracranial hemorrhages and right hip hematoma: A case report
Lei Wang, Ning Zhang, Dong-Cheng Liang, Hao-Ling Zhang, Le-Qing Lin
Lei Wang, Ning Zhang, Dong-Cheng Liang, Le-Qing Lin, Department of Intensive Care Medicine, Hangzhou Normal University Affiliated Hospital, Hangzhou 310015, Zhejiang Province, China
Hao-Ling Zhang, Department of Biomedical Science, Advanced Medical and Dental Institute, University Sains Malaysia, Penang 13200, Malaysia
Co-corresponding authors: Le-Qing Lin and Hao-Ling Zhang.
Author contributions: Wang L conducted case data collection and initial analysis; Zhang N provided expert medical consultation and recommendations, particularly concerning the diagnosis and management of coagulation factor XIII deficiency; Liang DC executed imaging analysis and interpretation, with a focus on the radiological findings of intracranial hemorrhage and hip hematoma; Zhang HL and Lin LQ undertook a comprehensive review and revision of the manuscript to ensure academic rigor and integrity.
Supported bythe Medical and Health Science Foundation of Zhejiang, No. 2023KY186; Hangzhou Science and Technology Development Plan Guide Project, No. 20220919Y023; and the Hangzhou Medical Key Discipline Construction Program, No. 2021.
Informed consent statement: Consent for publication of the case details was obtained from the patient’s spouse.
Conflict-of-interest statement: The authors declare that they have no conflict of interest.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Le-Qing Lin, PhD, Doctor, Department of Intensive Care Medicine, Hangzhou Normal University Affiliated Hospital, No. 126 Wenzhou Road, Gongshu District, Hangzhou 310015, Zhejiang Province, China. lqxdy83641@21cn.com
Received: March 15, 2024 Revised: August 14, 2024 Accepted: August 27, 2024 Published online: September 28, 2024 Processing time: 195 Days and 14.6 Hours
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.
Core Tip: 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 ACE gene, confirming the diagnosis of acquired FXIII deficiency. This case underscores the imperative of contemplating acquired coagulopathies in individuals experiencing unexplained and recurrent hemorrhagic episodes. Furthermore, it underscores the value of thorough genetic analysis in uncovering uncommon coagulation anomalies, which can substantially influence patient care and prognosis. Subsequent investigations could delve into elucidating the pathophysiological mechanisms underpinning mutations in the ACE gene and their interplay with coagulation pathways. Acquired FXIII deficiency, albeit uncommon, warrants consideration in individuals presenting with inexplicable hemorrhagic episodes. Genetic testing emerges as pivotal in the diagnosis and therapeutic approach to such instances.
