Lei Wang, Ning Zhang, Dong-Cheng Liang, Hao-Ling Zhang, Le-Qing Lin
{"title":"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。","authors":"Lei Wang, Ning Zhang, Dong-Cheng Liang, Hao-Ling Zhang, Le-Qing Lin","doi":"10.4329/wjr.v16.i9.439","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>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.</p><p><strong>Case summary: </strong>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 <i>ACE</i> gene, confirming the diagnosis of acquired FXIII deficiency.</p><p><strong>Conclusion: </strong>This case underscores the significance of considering acquired deficiencies in clotting factors when evaluating patients with unexplained bleeding episodes.</p>","PeriodicalId":23819,"journal":{"name":"World journal of radiology","volume":"16 9","pages":"439-445"},"PeriodicalIF":1.4000,"publicationDate":"2024-09-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11440274/pdf/","citationCount":"0","resultStr":"{\"title\":\"Acquired factor XIII deficiency presenting with multiple intracranial hemorrhages and right hip hematoma: A case report.\",\"authors\":\"Lei Wang, Ning Zhang, Dong-Cheng Liang, Hao-Ling Zhang, Le-Qing Lin\",\"doi\":\"10.4329/wjr.v16.i9.439\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Background: </strong>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.</p><p><strong>Case summary: </strong>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 <i>ACE</i> gene, confirming the diagnosis of acquired FXIII deficiency.</p><p><strong>Conclusion: </strong>This case underscores the significance of considering acquired deficiencies in clotting factors when evaluating patients with unexplained bleeding episodes.</p>\",\"PeriodicalId\":23819,\"journal\":{\"name\":\"World journal of radiology\",\"volume\":\"16 9\",\"pages\":\"439-445\"},\"PeriodicalIF\":1.4000,\"publicationDate\":\"2024-09-28\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11440274/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"World journal of radiology\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.4329/wjr.v16.i9.439\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"RADIOLOGY, NUCLEAR MEDICINE & MEDICAL IMAGING\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"World journal of radiology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.4329/wjr.v16.i9.439","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"RADIOLOGY, NUCLEAR MEDICINE & MEDICAL IMAGING","Score":null,"Total":0}
Acquired factor XIII deficiency presenting with multiple intracranial hemorrhages and right hip hematoma: A case report.
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.