遗传性异常纤维蛋白原血症:诊治现状与挑战

Congenital dysfibrinogenemia:current status and challenges in diagnosis and treatment

遗传性异常纤维蛋白原血症(CDF)是以纤维蛋白原功能障碍为特点的最常见的一类先天性纤维蛋白原缺陷类型。由于多数患者无明显临床症状,导致其患病率被显著低估。除了出血表现外,CDF患者还可能合并有血栓事件或妊娠相关并发症。纤维蛋白原抗原测定以及分子遗传性分析有助于CDF与其他类型的遗传性纤维蛋白原缺陷症相鉴别。CDF患者的临床表现个体间差异显著,除了个人史及家族史外,目前尚缺乏有效预测其出血或血栓风险的常规实验室方法或手段,导致其临床管理困难,特别是围术期或妊娠期的CDF患者。未来需要更多的登记组研究和前瞻性研究以提高对该疾病的认识和指导患者的临床管理。

Congenital dysfibrinogenemia(CDF)is the most common type of congenital fibrinogen disorders,characterized by dysfunctional fibrinogen.Its prevalence is significantly underestimated due to the absence of obvious clinical symptoms in most patients.In addition to bleeding manifestations,patients with CDF may experience thrombotic events or pregnancy-related complications.Fibrinogen antigen assays and molecular heritability analyses can help differentiate CDF from other types of congenital fibrinogen disorders.The clinical presentation of CDF varies significantly among individuals,and there is a lack of routine laboratory methods to effectively predict the risk of bleeding or thrombosis in these patients,in addition to their personal and family histories.This poses challenges in the clinical management of patients with CDF,particularly during the perioperative period or pregnancy.Further registry-based and prospective studies are needed to improve our understanding of this disease and guide clinical management.