[Congenital dysfibrinogenemia: current status and challenges in diagnosis and treatment].

Abstract

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.