Emory University School of Medicine, Cardiothoracic Anesthesiology, and Critical Care Emory Healthcare, Atlanta, Georgia 30322, USA.
Transfusion. 2013 May;53(5):1120-31. doi: 10.1111/j.1537-2995.2012.03865.x. Epub 2012 Aug 28.
Factor XIII (FXIII) is activated by thrombin to form a transglutaminase (FXIIIa) that stabilizes clot formation by the cross-linking of fibrin monomers and antifibrinolytic proteins. Although rare, FXIII deficiency is characterized by variable bleeding manifestations depending on the magnitude of the deficiency. A congenital FXIII deficiency with levels less than 1% can be detected in children who present with prolonged bleeding from the umbilical stump as well as protracted bleeding after trauma. An acquired FXIII deficiency may occur in a number of diseases or clinical situations where FXIII levels and/or its activity are decreased. Patients may also develop a relative deficiency in FXIII as a result of hemorrhage or dilutional changes from transfusions during surgery or trauma and are at increased risk for postoperative bleeding. Genetic studies have identified a wide range of mutations that affect the activity of the FXIII protein but in lieu of molecular genetic analyses, FXIII deficiency can be identified by specific diagnostic assays that measure either the transglutaminase activity of the protein or the levels of the protein and its individual subunits. Replacement therapy has also been shown to increase FXIII levels and reduce bleeding symptoms in patients with congenital FXIII deficiency. This review presents recent findings on the biology of FXIII and the clinical manifestations observed among patients with congenital and acquired FXIII deficiencies.
凝血因子 XIII（FXIII）可被凝血酶激活形成转谷氨酰胺酶（FXIIIa），通过交联纤维蛋白单体和抗纤维蛋白溶解蛋白来稳定血栓形成。尽管 FXIII 缺乏症较为罕见，但根据缺乏的严重程度，其具有不同的出血表现特征。先天性 FXIII 缺乏症患者的 FXIII 水平低于 1%，可表现为脐残端出血时间延长以及创伤后出血时间延长。获得性 FXIII 缺乏症可发生于多种疾病或临床情况，导致 FXIII 水平和/或其活性降低。患者也可能由于手术或创伤期间出血或输血引起的稀释性变化而导致 FXIII 相对缺乏，从而增加术后出血的风险。遗传研究已经确定了广泛影响 FXIII 蛋白活性的突变，但在没有分子遗传学分析的情况下，可通过特定的诊断检测来识别 FXIII 缺乏症，这些检测可测量蛋白的转谷氨酰胺酶活性或蛋白及其各个亚单位的水平。替代疗法也已被证明可增加先天性 FXIII 缺乏症患者的 FXIII 水平并减轻出血症状。本文综述了 FXIII 的生物学以及先天性和获得性 FXIII 缺乏症患者的临床表现的最新发现。
