Hematology Research Center, Shiraz University of Medical Sciences, Shiraz, Iran.
Indiana Hemophilia & Thrombosis Center, Indianapolis, IN, USA.
Int J Lab Hematol. 2018 Feb;40(1):3-11. doi: 10.1111/ijlh.12756. Epub 2017 Oct 13.
Factor XIII deficiency (FXIIID) is a rare hereditary bleeding disorder arising from heterogeneous mutations, which can lead to life-threatening hemorrhage. The diagnosis of FXIIID is challenging due to normal standard coagulation assays requiring specific FXIII assays for diagnosis, which is especially difficult in developing countries. This report presents an overview of FXIIID diagnosis and laboratory methods and suggests an algorithm to improve diagnostic efficiency and prevent missed or delayed FXIIID diagnosis. Assays measuring FXIII activity: The currently available assays utilized to diagnose FXIIID, including an overview of their complexity, reliability, sensitivity, and specificity, as well as mutational analysis are reviewed. The use of a FXIII inhibitor assay is described. Diagnostic tools in FXIIID: Many laboratories are not equipped with quantitative FXIII activity assays, and if available, limitations in lower activity ranges are important to consider. Clot solubility tests are not standardized, have a low sensitivity, and are therefore not recommended as routine screening test; however, they are the first screening test in almost all coagulation laboratories in developing countries. To minimize the number of patients with undiagnosed FXIIID, test quality should be improved in less well-equipped laboratories. Common country-specific mutations may facilitate diagnosis through targeted genetic analysis in reference laboratories in suspected cases. However, genetic analysis may not be feasible in every country and may miss spontaneous mutations. Centralized FXIII activity measurements should also be considered. An algorithm for diagnosis of FXIIID including different approaches dependent upon laboratory capability is proposed.
凝血因子 XIII 缺乏症（FXIID）是一种罕见的遗传性出血性疾病，由多种突变引起，可导致危及生命的出血。由于正常的标准凝血检测需要特定的 FXIII 检测来诊断 FXIID，因此诊断具有挑战性，特别是在发展中国家。本报告概述了 FXIID 的诊断和实验室方法，并提出了一种算法，以提高诊断效率并防止 FXIID 的漏诊或延迟诊断。
测量 FXIII 活性的检测：目前用于诊断 FXIID 的检测方法，包括对其复杂性、可靠性、灵敏度和特异性的概述，以及突变分析进行了综述。还描述了 FXIII 抑制剂检测的应用。
FXIID 的诊断工具：许多实验室没有配备定量 FXIII 活性检测，如果有，需要考虑较低活性范围内的局限性。凝块溶解试验未标准化，灵敏度低，因此不建议作为常规筛选试验；然而，它们是发展中国家几乎所有凝血实验室的首选筛选试验。为了最大限度地减少未确诊 FXIID 患者的数量，应在设备较差的实验室中提高检测质量。在疑似病例中，通过在参考实验室进行有针对性的基因分析，常见的特定于国家的突变可能有助于诊断。然而，在每个国家都进行基因分析可能并不可行，并且可能会遗漏自发突变。还应考虑集中进行 FXIII 活性测量。提出了一种包含依赖于实验室能力的不同方法的 FXIID 诊断算法。
