%0 Journal Article
%T Clinical phenotype and laboratory characteristics of 93 patients with congenital fibrinogen disorders from unrelated 36 families.
%A Tian D
%A Liang J
%A Gao H
%A Xu X
%A Nie W
%A Yin M
%A Lou J
%A Shen HQ
%J Res Pract Thromb Haemost
%V 8
%N 4
%D 2024 May
%M 38953055
%F 5.953
%R 10.1016/j.rpth.2024.102445
%X <B>UNASSIGNED: </B>Congenital fibrinogen disorders (CFDs) are rare bleeding disorders (RBDs) caused by mutations in 1 of the 3 fibrinogen genes (FGA, FGB, and FGG).<BR><B>UNASSIGNED: </B>To investigate the clinical phenotype, laboratory features, diagnosis, treatment, and prognosis of CFDs.<BR><B>UNASSIGNED: </B>Clinical data of 93 subjects with CFDs identified from June 2018 to December 2023 were retrospectively analyzed.<BR><B>UNASSIGNED: </B>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.<BR><B>UNASSIGNED: </B>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.