The landscape of rare coagulation factor deficiency management in Italy: a national hemophilia center survey
Year: 2025
Type: article
Study design: Observational Study
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.
Institutions: Azienda Ospedaliero-Universitaria Careggi, University of Bari Aldo Moro, Azienda Ospedaliero-Universitaria "Renato Dulbecco", University of Parma, Ospedale SS. Annunziata, University of Milan, Luigi Sacco Hospital, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Policlinico Umberto I, University of Padua, Azienda Ospedale - Università Padova
Language: English
Subfield: Hematology
Field: Medicine
Domain: Health Sciences
Open Access status: diamond
OpenAlex ID: W4415918418