Abstract：
Congenital fibrinogen disorders are diseases associated with a bleeding tendency; however, there are also reports of thrombotic events. Fibrinogen plays a role in the pathogenesis of thrombosis due to altered plasma concentrations or modifications to fibrinogen\'s structural properties, which affect clot permeability, resistance to lysis, and its stiffness. Several distinct types of genetic change and pathogenetic mechanism have been described in patients with bleeding and a thrombotic phenotype, including mutations affecting synthesis or processing in three fibrinogen genes. In this paper, we focused on familial hypofibrinogenemia, a rare inherited quantitative fibrinogen disorder characterized by decreased fibrinogen levels with a high phenotypic heterogeneity. To begin, we briefly review the basic information regarding fibrinogen\'s structure, its function, and the clinical consequences of low fibrinogen levels. Thereafter, we introduce 15 case reports with various gene mutations derived from the fibrinogen mutation database GFHT (French Study Group on Hemostasis and Thrombosis), which are associated with congenital hypofibrinogenemia with both bleeding and thrombosis. Predicting clinical presentations based on genotype data is difficult. Genotype-phenotype correlations would be of help to better understand the pathologic properties of this rare disease and to provide a valuable tool for the identification of patients who are not only at risk of bleeding, but also at risk of a thrombotic event.
摘要：
先天性纤维蛋白原疾病是与出血倾向相关的疾病;然而，也有血栓事件的报告.由于血浆浓度的改变或纤维蛋白原结构特性的改变，纤维蛋白原在血栓形成的发病机制中发挥作用。影响凝块渗透性，耐裂解，和它的刚度。已经在出血和血栓形成表型的患者中描述了几种不同类型的遗传变化和发病机制。包括影响三个纤维蛋白原基因合成或加工的突变。在本文中,我们关注家族性低纤维蛋白原血症,一种罕见的遗传性定量纤维蛋白原疾病，其特征是纤维蛋白原水平降低，表型异质性高。开始,我们简要回顾了有关纤维蛋白原结构的基本信息，其功能,和低纤维蛋白原水平的临床后果。此后,我们介绍了15例来自纤维蛋白原突变数据库GFHT（法国止血和血栓形成研究小组）的各种基因突变的病例报告，与出血和血栓形成的先天性低纤维蛋白原血症有关。根据基因型数据预测临床表现是困难的。基因型-表型相关性将有助于更好地了解这种罕见疾病的病理特性，并为识别不仅有出血风险的患者提供有价值的工具。但也有血栓事件的风险。
