Diagnostic and management practices for inherited fibrinogen disorders: a nationwide survey of Italian Hemophilia Treatment Centers
Year: 2025
Type: article
Study design: Observational Study
Abstract: Background: inherited fibrinogen disorders are characterized by a spectrum of quantitative or qualitative fibrinogen deficiency associated with both a hemorrhagic and thrombotic risk.Methods: a nationwide survey was conducted in 19 Italian Hemophilia Treatment Centers in order to investigate current diagnostic and management practices for inherited fibrinogen disorders (afibrinogenemia, hypofibrinogenemia, and dysfibrinogenemia).Results: the survey revealed a strong consensus (95% of centers) on the necessity of both functional and antigenic fibrinogen assays for diagnosis, and a preference for fibrinogen concentrate-based treatment (used by >85% of centers). However, significant heterogeneity was observed in critical areas: for hypofibrinogenemia, the definition of a «severe» form varied among centers, and the perceived risk of spontaneous intracranial hemorrhage remained a major point of uncertainty (up to 47% of respondents answered ‘don’t know’ for this risk in hypofibrinogenemia and dysfibrinogenemia). Furthermore, intervention thresholds for major surgical procedures showed a high degree of variability across all three disorders.Conclusions: the findings highlight areas of consistent practice alongside those requiring further standardization and collaborative research to optimize the care of individuals with these rare bleeding and thrombotic conditions.
Authors: Renato Marino, Silvia Linari, Marzia Leotta, Antonio Coppola, Chiara Biasoli, Maria Elisa Mancuso, Flora Peyvandi, Cristina Santoro, Ezio Zanon, Rita Carlotta Santoro
Institutions: Azienda Universitaria Ospedaliera Consorziale - Policlinico Bari, Azienda Ospedaliero-Universitaria Careggi, Azienda Ospedaliero-Universitaria "Renato Dulbecco", University of Parma, Ospedale “M. Bufalini” di Cesena, Humanitas University, IRCCS Humanitas Research Hospital, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Policlinico Umberto I, University of Padua, Azienda Ospedale - Università Padova
Language: English
Subfield: Pulmonary and Respiratory Medicine
Field: Medicine
Domain: Health Sciences
Open Access status: diamond
OpenAlex ID: W4416904402