The landscape of rare coagulation factor deficiency management in Italy: a national hemophilia center survey

Authors: Linari, S; Marino, R; Leotta, M; Coppola, A; Di Gregorio, P; Federici, AB; Peyvandi, F; Santoro, C; Zanon, E; Santoro, RC

Affiliations: Center for Bleeding Disorders and Coagulation, Department of Heart, Lung and Vessels, Careggi University Hospital, Florence; Hemophilia and Thrombosis Center, University Hospital of Bari; Hemophilia, Hemostasis and Thrombosis Unit, Department of Hemato-Oncology, Dulbecco University Hospital, Catanzaro; Regional Reference Center for Inherited Bleeding Disorders, University Hospital of Parma; Immunohematology and Transfusional Medicine Service, “SS. Annunziata” Hospital, Chieti; Hematology and Transfusion Medicine, School of Medicine of the University of Milan, L. Sacco University Hospital, Milan; Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca’ Granda, Ospedale Maggiore Policlinico, Milan; Hematology Unit, Policlinico Umberto I University Hospital, Rome; Department of Medicine, Hemophilia Center, University Hospital of Padua, Italy

Publication: Bleeding, Thrombosis and Vascular Biology; 2025; 4

ABSTRACT: BACKGROUND: Rare bleeding disorders (RBDs) are a group of inherited conditions caused by deficiencies in specific coagulation factors, excluding hemophilia A/B and von Willebrand disease. Individually rare, they pose a significant challenge for diagnosis and management due to diverse clinical presentations and low awareness. This study aimed to provide an overview of RBDs. METHODS: An online survey was sent to Italian hemophilia treatment centers. RESULTS: Nineteen centers responded. The diagnostic approach was tiring, but key definitions showed significant variability. This included defect severity, target hemostatic levels for surgery, eligibility thresholds for rare disease exemptions. The use of prophylaxis varied, although favored in severe FII, FVII, FX, and FXIII defects. Treatment primarily involved factor-specific concentrates and tranexamic acid. While inhibitor development was considered uncommon, it was a recognized risk. Bleeding management during dental procedures, pregnancy, and delivery also showed variability. Additionally, normal factor levels in neonates differed across centers. CONCLUSIONS: This study highlights a good consensus for managing certain RBDs (FII, FVII, FX, FXIII) in Italy. However, significant heterogeneity persists, emphasizing the need for greater standardization and further research in several key areas.