Congenital dysfibrinogenemia (CD) is a rare disorder of hemostasis. The majority of cases are caused by heterozygous missense mutations in one of the three fibrinogen genes. Patients with CD may experience bleeding and thrombosis, but many are asymptomatic. To better describe the clinical, laboratory, and genotypic picture of CD, we evaluated 31 patients from seven unrelated families using standard coagulation tests and genetic analysis. The clinical phenotype consisted of bleeding in 13/31 (42%) patients; other patients (18/31; 58%) were asymptomatic. Among patients with bleeding, symptoms were mostly in single anatomical sites, with variable intensity of bleeding. Compared to results from a previous large systematic survey, our results showed a similar mean bleeding score, but a higher incidence of bleeding episodes without thrombotic complications. In the present study, we identified three known pathogenic point mutations in the FGA (c.95G > A, c.104G > A) and FGB (c.586C > T) genes. The variants of CD identified in this cross-sectional study were either asymptomatic or had bleeding manifestations and showed similar laboratory features, irrespective of genotype. Results from genetic and clinical studies will continue to yield valuable information on the structure and function of the fibrinogen molecule.

中文翻译：

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斯洛伐克北部31例先天性纤维蛋白原血症患者的临床表型与遗传和实验室结果的比较。

先天性纤维蛋白原血症（CD）是一种罕见的止血病。大多数情况是由三个纤维蛋白原基因之一的杂合错义突变引起的。CD患者可能会出现出血和血栓形成，但许多患者没有症状。为了更好地描述CD的临床，实验室和基因型图片，我们使用标准凝血测试和遗传分析评估了来自七个无关家庭的31名患者。临床表型由13/31（42％）患者的出血组成；其他患者（18/31； 58％）无症状。在出血患者中，症状大多发生在单个解剖部位，出血强度不一。与之前的大型系统调查结果相比，我们的结果显示平均出血评分相似，但无血栓并发症的出血事件发生率更高。在本研究中，我们确定了FGA（c.95G> A，c.104G> A）和FGB（c.586C> T）基因中三个已知的致病点突变。在该横断面研究中鉴定出的CD变体无症状或有出血表现，并显示出相似的实验室特征，而与基因型无关。遗传和临床研究的结果将继续产生有关纤维蛋白原分子结构和功能的有价值的信息。不考虑基因型。遗传和临床研究的结果将继续产生有关纤维蛋白原分子结构和功能的有价值的信息。不考虑基因型。遗传和临床研究的结果将继续产生有关纤维蛋白原分子结构和功能的有价值的信息。