【先天性纤维蛋白异常血症:诊断和治疗的现状和挑战】。

Z Wang, T N Zhu
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引用次数: 0

摘要

先天性纤维蛋白原异常血症(CDF)是最常见的先天性纤维蛋白原疾病,以纤维蛋白原功能失调为特征。由于大多数患者无明显临床症状,其患病率被严重低估。除了出血表现外,CDF患者还可能出现血栓形成事件或妊娠相关并发症。纤维蛋白原抗原测定和分子遗传性分析可以帮助区分CDF与其他类型的先天性纤维蛋白原疾病。CDF的临床表现在个体之间差异很大,除了他们的个人和家族病史外,缺乏常规的实验室方法来有效预测这些患者出血或血栓形成的风险。这对CDF患者的临床管理提出了挑战,特别是在围手术期或妊娠期。需要进一步的基于登记的前瞻性研究来提高我们对这种疾病的理解并指导临床管理。
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[Congenital dysfibrinogenemia: current status and challenges in diagnosis and treatment].

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.

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