PDF(Pubmed)
Abstract：
UNASSIGNED: Congenital fibrinogen disorders (CFDs) are rare bleeding disorders (RBDs) caused by mutations in 1 of the 3 fibrinogen genes (FGA, FGB, and FGG).
UNASSIGNED: To investigate the clinical phenotype, laboratory features, diagnosis, treatment, and prognosis of CFDs.
UNASSIGNED: Clinical data of 93 subjects with CFDs identified from June 2018 to December 2023 were retrospectively analyzed.
UNASSIGNED: Among the 93 patients, there were 46 males (49.5%) and 47 females (50.5%), with a median age of 23 years. Fifty-three of 93 (57%) subjects experienced bleeding, 3/93 (3.2%) experienced thrombosis, and 37/93 (39.8%) were asymptomatic. Females were more prone to experience bleeding (P < .0001). The 93 patients exhibited prolonged thrombin time, significantly decreased fibrinogen activity (Fg:C), and normal or decreased fibrinogen antigen. The 93 patients included 3 with hypofibrinogenemia, 16 with hypodysfibrinogenemia, and 74 with dysfibrinogenemia. Among the 53 patients with bleeding, bleeding episodes were identified in 3.8% (2/53), 20.8% (11/53), and 75.5% (40/53) patients with hypofibrinogenemia, hypodysfibrinogenemia, and dysfibrinogenemia, respectively. Genetic analysis was performed on 22 cases from 8 pedigrees, revealing 10 mutations, including 1 novel splice mutation. Twenty-eight (30.1%) subjects received replacement therapy to treat or prevent bleeding, consisting of 8 fresh frozen plasma transfusions, 3 packing and suture treatment, and 61 fibrinogen infusions.
UNASSIGNED: Most patients with CFDs have mild or no bleeding symptoms. Fg:C combined with fibrinogen antigen and pedigree investigation can improve the feasibility and accuracy of diagnosis of CFDs. The severity of bleeding symptoms was negatively correlated with Fg:C.
UNASSIGNED: To investigate the clinical phenotype, laboratory features, diagnosis, treatment, and prognosis of CFDs.
UNASSIGNED: Clinical data of 93 subjects with CFDs identified from June 2018 to December 2023 were retrospectively analyzed.
UNASSIGNED: Among the 93 patients, there were 46 males (49.5%) and 47 females (50.5%), with a median age of 23 years. Fifty-three of 93 (57%) subjects experienced bleeding, 3/93 (3.2%) experienced thrombosis, and 37/93 (39.8%) were asymptomatic. Females were more prone to experience bleeding (P < .0001). The 93 patients exhibited prolonged thrombin time, significantly decreased fibrinogen activity (Fg:C), and normal or decreased fibrinogen antigen. The 93 patients included 3 with hypofibrinogenemia, 16 with hypodysfibrinogenemia, and 74 with dysfibrinogenemia. Among the 53 patients with bleeding, bleeding episodes were identified in 3.8% (2/53), 20.8% (11/53), and 75.5% (40/53) patients with hypofibrinogenemia, hypodysfibrinogenemia, and dysfibrinogenemia, respectively. Genetic analysis was performed on 22 cases from 8 pedigrees, revealing 10 mutations, including 1 novel splice mutation. Twenty-eight (30.1%) subjects received replacement therapy to treat or prevent bleeding, consisting of 8 fresh frozen plasma transfusions, 3 packing and suture treatment, and 61 fibrinogen infusions.
UNASSIGNED: Most patients with CFDs have mild or no bleeding symptoms. Fg:C combined with fibrinogen antigen and pedigree investigation can improve the feasibility and accuracy of diagnosis of CFDs. The severity of bleeding symptoms was negatively correlated with Fg:C.
摘要：
■先天性纤维蛋白原疾病（CFDs）是由3个纤维蛋白原基因中的1个基因突变引起的罕见出血性疾病（RBD）（FGA，FGB,和FGG）。
■为了研究临床表型，实验室特点,诊断,治疗,和CFDs的预后。
■回顾性分析了2018年6月至2023年12月确定的93例CFDs受试者的临床数据。
■在93名患者中，有46名男性(49.5%)和47名女性(50.5%)，平均年龄为23岁。93名受试者中有53名（57%）经历了出血，3/93（3.2%）出现血栓形成，37/93（39.8％）无症状。女性更容易出现出血（P<0.0001）。93例患者的凝血酶时间延长,显着降低纤维蛋白原活性（Fg：C），和正常或降低的纤维蛋白原抗原。93例患者包括3例低纤维蛋白原血症，16伴有低纤维蛋白原血症，和74患有纤维蛋白原血症。在53例出血患者中，在3.8%(2/53)中发现出血发作,20.8%（11/53），75.5%(40/53)的低纤维蛋白原血症患者，低纤维蛋白原血症，和纤维蛋白原血症，分别。对8个家系的22例进行了遗传分析，揭示了10个突变，包括1个新的剪接突变。28名（30.1%）受试者接受替代疗法治疗或预防出血，包括8次新鲜冷冻血浆输血，3包装和缝合处理，和61个纤维蛋白原输注。
■大多数CFDs患者有轻度或无出血症状。Fg：C联合纤维蛋白原抗原及家系调查可提高CFDs诊断的可行性和准确性。出血症状的严重程度与Fg:C呈负相关。
■为了研究临床表型，实验室特点,诊断,治疗,和CFDs的预后。
■回顾性分析了2018年6月至2023年12月确定的93例CFDs受试者的临床数据。
■在93名患者中，有46名男性(49.5%)和47名女性(50.5%)，平均年龄为23岁。93名受试者中有53名（57%）经历了出血，3/93（3.2%）出现血栓形成，37/93（39.8％）无症状。女性更容易出现出血（P<0.0001）。93例患者的凝血酶时间延长,显着降低纤维蛋白原活性（Fg：C），和正常或降低的纤维蛋白原抗原。93例患者包括3例低纤维蛋白原血症，16伴有低纤维蛋白原血症，和74患有纤维蛋白原血症。在53例出血患者中，在3.8%(2/53)中发现出血发作,20.8%（11/53），75.5%(40/53)的低纤维蛋白原血症患者，低纤维蛋白原血症，和纤维蛋白原血症，分别。对8个家系的22例进行了遗传分析，揭示了10个突变，包括1个新的剪接突变。28名（30.1%）受试者接受替代疗法治疗或预防出血，包括8次新鲜冷冻血浆输血，3包装和缝合处理，和61个纤维蛋白原输注。
■大多数CFDs患者有轻度或无出血症状。Fg：C联合纤维蛋白原抗原及家系调查可提高CFDs诊断的可行性和准确性。出血症状的严重程度与Fg:C呈负相关。
