Original Articles
Vol. 4 No. 3 (2025)
The landscape of rare coagulation factor deficiency management in Italy: a national hemophilia center survey
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All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.
Published: 5 November 2025
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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.
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Citations
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How to Cite
1.
Linari S, Marino R, Leotta M, Coppola A, Di Gregorio P, Federici AB, et al. The landscape of rare coagulation factor deficiency management in Italy: a national hemophilia center survey. Bleeding Thromb Vascul Biol [Internet]. 2025 Nov. 5 [cited 2026 Jan. 28];4(3). Available from: https://www.btvb.org/btvb/article/view/369
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