University Clinic of Hematology, Hemostasis Research Laboratory, University Hospital, University of Bern, Bern, Switzerland.
Semin Thromb Hemost. 2013 Sep;39(6):632-41. doi: 10.1055/s-0033-1353392. Epub 2013 Aug 8.
Confirmation of suspected congenital factor XIII (FXIII) deficiency still represents a diagnostic challenge in the field of rare bleeding disorders. Because of the lack of awareness and difficulties associated with timing of blood sampling, FXIII laboratory assays, and interpretation of laboratory results, diagnoses of FXIII deficiency are still missed all over the world with potentially fatal consequences from severe bleeding complications. Better knowledge of FXIII biochemical properties and function and understanding of the principles and limitations of FXIII laboratory assays can prevent missed diagnoses, and patients will benefit from better care. This review gives a detailed overview and update about congenital FXIII deficiency, its epidemiology, and molecular genetics. It highlights the importance of newer specific FXIII assays and their principles to avoid any missed diagnosis of FXIII deficiency. This review also gives an update on the therapeutic options for patients suffering from this rare but life-threatening disease.
疑似先天性凝血因子 XIII（FXIII）缺乏症的确诊在罕见出血性疾病领域仍然是一项挑战。由于缺乏认识，以及与采血时间、FXIII 实验室检测和实验室结果解读相关的困难，FXIII 缺乏症的诊断在世界各地仍被漏诊，从而可能导致严重出血并发症的致命后果。更好地了解 FXIII 的生化特性和功能，以及理解 FXIII 实验室检测的原理和局限性，可以预防漏诊，患者将从中受益于更好的治疗。这篇综述详细概述和更新了先天性 FXIII 缺乏症的流行病学和分子遗传学。它强调了新型特定 FXIII 检测及其原理的重要性，以避免任何 FXIII 缺乏症的漏诊。这篇综述还更新了患有这种罕见但危及生命的疾病的患者的治疗选择。
