Original Articles
Vol. 4 No. 3 (2025)
https://doi.org/10.4081/btvb.2025.369

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

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Published: 5 November 2025
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Rare bleeding disorders, hemorrhagic risk, prophylaxis

Authors

Silvia Linari
linaris@aou-careggi.toscana.it
https://orcid.org/0000-0002-5849-7377
Center for Bleeding Disorders and Coagulation, Department of Heart, Lung and Vessels, Careggi University Hospital, Florence, Italy.
Renato Marino
https://orcid.org/0000-0003-4764-8974
Hemophilia and Thrombosis Center, University Hospital of Bari, Italy.
Marzia Leotta
https://orcid.org/0000-0001-8466-6384
Hemophilia, Hemostasis and Thrombosis Unit, Department of Hemato-Oncology, Dulbecco University Hospital, Catanzaro, Italy.
Antonio Coppola
https://orcid.org/0000-0003-3697-706X
Regional Reference Center for Inherited Bleeding Disorders, University Hospital of Parma, Italy.
Patrizia Di Gregorio
https://orcid.org/0009-0006-0771-8404
Immunohematology and Transfusional Medicine Service, “SS. Annunziata” Hospital, Chieti , Italy.
Augusto Bramante Federici
https://orcid.org/0000-0003-4325-0918
Hematology and Transfusion Medicine, School of Medicine of the University of Milan; L. Sacco University Hospital, Milan, Italy.
Flora Peyvandi
https://orcid.org/0000-0001-7423-9864
Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca’ Granda, Ospedale Maggiore Policlinico, Milan, Italy.
Cristina Santoro
https://orcid.org/0000-0002-7181-447X
Hematology Unit, Policlinico Umberto I University Hospital, Rome, Italy.
Ezio Zanon
https://orcid.org/0000-0001-6149-1155
Department of Medicine, Hemophilia Center, University Hospital of Padua, Italy.
Rita Carlotta Santoro
https://orcid.org/0000-0002-5081-8201
Hemophilia, Hemostasis and Thrombosis Unit, Department of Hemato-Oncology, Dulbecco University Hospital, Catanzaro, Italy.

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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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 2025 Nov. 7];4(3). Available from: https://www.btvb.org/btvb/article/view/369
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