A5069200930- Blood properties and coagulation
- Platelet Disorders and Treatments
- Hemophilia Treatment and Research
- Blood Coagulation and Thrombosis Mechanisms
- Coagulation, Bradykinin, Polyphosphates, and Angioedema
- Hemoglobinopathies and Related Disorders
University of Milan
2023-2024
High Institute for Education and Research in Transfusion Medicine
2021
Congenital fibrinogen deficiency (CFD) is a rare bleeding disorder caused by mutations in FGA, FGB, and FGG. We sought to comprehensively characterize patients with CFD using PRO-RBDD (Prospective Rare Bleeding Disorders Database). Clinical phenotypes, laboratory, genetic features were investigated retrospective data from the PRO-RBDD. Patients classified asymptomatic grade 3 based on their severity. In addition, FGG sequenced find causative variants. A total of 166 cases 16 countries...
The management of hemophilia, von Willebrand disease (VWD), and rare coagulation disorders traditionally relied on replacement therapies, such as factor concentrates, to address clotting deficiencies. However, in recent years, the emergence nonreplacement therapies has shown promise an adjunctive approach, especially also for patients with VWD bleeding disorders. This review article offers overview FVIII-mimicking agents drugs aimed at rebalancing hemostasis by inhibiting natural...
The assessment of clinical history is crucial before referring a patient for further laboratory testing. Bleeding tools (BAT) are developed to standardize evaluation. A small number patients with congenital fibrinogen deficiencies (CFDs) have been evaluated these without definitive results.We compared the adequacy ISTH-BAT and European network rare bleeding disorders score system (EN-RBD-BSS) identify CFDs. correlation between two BATs levels grade severity was analyzed.We included 100...