Measurement of factor XIII for the diagnosis and management of deficiencies: insights from a retrospective review of 10 years of data on consecutive samples and patients

IF 3.4 3区 医学 Q2 HEMATOLOGY
Mohammed Abdullah Al Sharif , Natalie Mathews , Subia Tasneem , Karen A. Moffat , Stephen A. Carlino , Siraj Mithoowani , Catherine P.M. Hayward
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Abstract

Background

Factor XIII (FXIII) deficiency is a challenge in the diagnosis of rare bleeding disorders with inherited and acquired causes.

Objectives

We evaluated consecutive cases tested for FXIII deficiency for insights on diagnosis.

Methods

With ethics approval, we retrospectively reviewed FXIII tests performed between 2013 and 2023 and local patient records for insights into causes and presentations of FXIII deficiency.

Results

Two thousand one hundred ninety-one samples from 1915 patients (ages: 0-90 years; 38% local) were tested. The FXIII activity (FXIII:Act; Berichrom FXIII, Siemens Healthcare) was low in 14%/9.7% of tested samples/patients. FXIII subunit A antigen (FXIII-A:Ag; Werfen HemosIL FXIII antigen; low in 45% of 251 samples) helped characterize FXIII deficiency severity and identify type 2 deficiencies from acquired FXIII inhibitors. Urea clot solubility tests (18.2% requested without FXIII:Act) were largely noninformative as all abnormal samples (n = 7) had undetectable FXIII-A:Ag levels. Excluding FXIII inhibitor patients, FXIII:Act showed strong correlation with FXIII-A:Ag (R2 = 0.84, P < .001) and weak correlation with plasma fibrinogen (R2 = .005, P < .001). Some patients had combined acquired FXIII and fibrinogen deficiencies from consumption or major bleeding. FXIII-deficient and nondeficient patients had similar bleeding except for more umbilical and gastrointestinal bleeding among deficient patients (P < .05). Most FXIII deficiencies were acquired (92%), and although several were autoimmune, most were from consumption, major bleeds, or severe infections or had uncertain significance, with bleeding sometimes attributable to other causes.

Conclusion

Congenital and acquired FXIII deficiency are associated with bleeding. Local practices were changed to ensure that FXIII:Act is used to screen for FXIII deficiency and that deficient patients have FXIII:Act and FXIII-A:Ag quantified and compared.
对缺陷的诊断和管理的因子XIII的测量:来自连续样本和患者10年数据的回顾性回顾的见解
因子XIII (FXIII)缺乏是诊断罕见的遗传性和获得性出血性疾病的一个挑战。目的对连续检测FXIII缺乏症的病例进行评价,以获得诊断的启示。方法经伦理批准,我们回顾性回顾了2013年至2023年间进行的FXIII试验和当地患者记录,以深入了解FXIII缺乏的原因和表现。结果1915例患者样本2191份,年龄0 ~ 90岁;38%本地)接受检测。FXIII活动(FXIII:法案;Berichrom FXIII(西门子医疗保健)在测试样本/患者中含量较低,为14%/9.7%。FXIII亚单位A抗原(FXIII-A:Ag;Werfen haemsil FXIII抗原;在251个样本中占45%)有助于表征FXIII缺陷的严重程度,并从获得性FXIII抑制剂中确定2型缺陷。尿素凝块溶解度测试(18.2%要求不含FXIII:Act)在很大程度上没有信息,因为所有异常样本(n = 7)都检测不到FXIII- a:Ag水平。排除FXIII抑制剂患者,FXIII:Act与FXIII- a:Ag呈强相关(R2 = 0.84, P <;.001),且与血浆纤维蛋白原呈弱相关(R2 = .005, P <;措施)。一些患者因进食或大出血合并获得性FXIII和纤维蛋白原缺乏。fxiii缺陷患者和非缺陷患者出血相似,但缺陷患者的脐部和胃肠道出血较多(P <;. 05)。大多数FXIII缺乏症是获得性的(92%),虽然有一些是自身免疫性的,但大多数是由于消耗、大出血、严重感染或意义不确定,出血有时可归因于其他原因。结论先天性和后天性FXIII缺乏与出血有关。改变了当地的做法,以确保FXIII:Act用于筛查FXIII缺乏症,并对FXIII:Act和FXIII- a:Ag进行量化和比较。
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来源期刊
CiteScore
5.60
自引率
13.00%
发文量
212
审稿时长
7 weeks
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