BACKGROUND: The goal of the coagulation pathway is the conversion of fibrinogen to fibrin and formation of an insoluble clot. Although relatively rare, congenital fibrinogen disorders are interesting and pose several challenges that can serve as paradigms for many diseases. An impressive body of knowledge has accumulated recently, particularly thanks to international collaborative clinical and genetic studies allowing the molecular characterization of these disorders. However, apart from the possibility of developing safer fibrinogen concentrates and the availability of prenatal diagnosis, the basic therapeutic approach has changed little. OBJECTIVE: We need to better understand the clinical phenotype of patients in order to administer fibrinogen preparations or other treatments more appropriately. METHODS: We discuss current therapeutic options and others that could be available in the near future. RESULTS/ CONCLUSION: Patients with congenital fibrinogen deficiencies require better predictive tests for clinical complications and more efficient and available fibrinogen concentrates. Global hemostasis tests in combination with routine assays could help to individually tailor therapeutic protocols.
BACKGROUND: The goal of the coagulation pathway is the conversion of fibrinogen to fibrin and formation of an insoluble clot. Although relatively rare, congenital fibrinogen disorders are interesting and pose several challenges that can serve as paradigms for many diseases. An impressive body of knowledge has accumulated recently, particularly thanks to international collaborative clinical and genetic studies allowing the molecular characterization of these disorders. However, apart from the possibility of developing safer fibrinogen concentrates and the availability of prenatal diagnosis, the basic therapeutic approach has changed little. OBJECTIVE: We need to better understand the clinical phenotype of patients in order to administer fibrinogen preparations or other treatments more appropriately. METHODS: We discuss current therapeutic options and others that could be available in the near future. RESULTS/ CONCLUSION:Patients with congenital fibrinogen deficiencies require better predictive tests for clinical complications and more efficient and available fibrinogen concentrates. Global hemostasis tests in combination with routine assays could help to individually tailor therapeutic protocols.
Authors: Zhilian Hu; Kari I Lavik; Yang Liu; Andy H Vo; Catherine E Richter; Jorge Di Paola; Jordan A Shavit Journal: J Thromb Haemost Date: 2019-02-25 Impact factor: 5.824