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[先天性纤维蛋白原异常血症:诊断与治疗的现状及挑战]

[Congenital dysfibrinogenemia: current status and challenges in diagnosis and treatment].

作者信息

Wang Z, Zhu T N

机构信息

Department of Hematology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing 100730, China.

出版信息

Zhonghua Xue Ye Xue Za Zhi. 2024 Oct 14;45(10):960-964. doi: 10.3760/cma.j.cn121090-20240326-00115.

Abstract

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.

摘要

先天性纤维蛋白原异常血症(CDF)是先天性纤维蛋白原疾病最常见的类型,其特征为纤维蛋白原功能异常。由于大多数患者没有明显的临床症状,其患病率被严重低估。除出血表现外,CDF患者还可能发生血栓事件或与妊娠相关的并发症。纤维蛋白原抗原检测和分子遗传分析有助于将CDF与其他类型的先天性纤维蛋白原疾病区分开来。CDF的临床表现个体差异很大,除了个人和家族病史外,缺乏有效的常规实验室方法来预测这些患者出血或血栓形成的风险。这给CDF患者的临床管理带来了挑战,尤其是在围手术期或妊娠期间。需要进一步开展基于登记的前瞻性研究,以增进我们对这种疾病的了解并指导临床管理。

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