Integrating Clinical, Functional, and Patient-Reported Outcomes in Haemophilia Care: A Delphi-Based Consensus on a New Monitoring Tool

Authors: Molinari, AC; Baldacci, E; Barillari, G; Coluccia, A; Coppola, A; Giuffrida, AC; Giuffrida, G; Gorio, C; Linari, S; Luciani, M; Catini, A; Nichele, I; Peyvandi, F; Pollio, B; Tagliaferri, A; Valeri, F; Villa, MR; Zanon, E; Napolitano, M

Affiliations: Thrombosis and Hemostasis Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy. Haematology, Department of Translational and Precision Medicine, « Sapienza» University, 00185 Rome, Italy. Center for Hemorrhagic and Thrombotic Diseases, General and University Hospital S. Maria della Misericordia, 33100 Udine, Italy. U.O.C di Medicina Interna, Centro Emofilia e Coagulopatie Rare-Ospedale « I.Veris delli Ponti », Scorrano-ASL, 73010 Lecce, Italy. Regional Hub Center for Hemophilia and Congenital Bleeding Disorders, University Hospital of Parma, 43126 Parma, Italy. U.O.C Medicina Trasfusionale, Azienda Ospedaliera Universitaria Integrata, 37126 Verona, Italy. U.O.C di Ematologia, A.O.U. Policlinico « Vittorio Emanuele », 95123 Catania, Italy. Pediatric Onco-Hematology Unit, Children’s Hospital, ASST-Spedali Civili, 25123 Brescia, Italy. Center for Bleeding Disorders and Coagulation, Department of Heart, Lung and Vessels, Careggi University Hospital, 50134 Florence, Italy. Hemostasis and Thrombosis Center, Onco-Hematology Department, Bambino Gesù Children’s Hospital, 00165 Rome, Italy. Analisi Statistiche.it, 00149 Rome, Italy.

Publication: Journal of Clinical Medicine; 2026; 15

ABSTRACT: BACKGROUND: An appropriate and effective management of haemophilia is currently based on a multidimensional evaluation of treatment adequacy. Current clinical practice, however, is still lacking standardized tools able to combine clinical, functional, and patient-reported outcomes. In this study a structured Monitoring Tool for haemophilia A and B was developed and validated through a Delphi-based expert consensus process. This study represents an expert consensus-based validation of a monitoring framework, rather than a clinical validation in patient cohorts. The tool is intended for use by haemophilia treaters during routine follow-up visits to support structured treatment reassessment. Score categories reflect the need for clinical re-evaluation or potential treatment optimization, rather than disease severity. METHODS: Italian haemophilia specialists were asked to participate to a panel over a two-round Delphi process. Experts rated the relevance of several predefined clinical domains-pharmacokinetics, bleeding episodes, joint health, adherence and quality of life (QoL)-and the individual items within each domain for patients on prophylactic or on-demand treatment. Consensus was defined by responses within an interquartile range (IQR) < 8. Section and item weights and Likert-based scoring values were used to reach a composite score between 0 and 100. RESULTS: Consensus was achieved for all domains and items across haemophilia types and treatments, prophylaxis and on demand (Haemophilia A: 16 and 12 participants; Haemophilia B: 12 and 9, respectively). With reference to prophylaxis domains, bleeding episodes received the highest domain weight (31-32%), followed by joint health (27-29%) and adherence/QoL (21-23%) and pharmacokinetics (18-19%). For on-demand treatment, pharmacokinetics was excluded; bleeding episodes (38-40%) and joint health (35-37%) remained dominant. At the item level, dynamic joint health indicators (HJHS and HEAD-US changes) and longitudinal QoL changes consistently received the highest weights. The final scoring system categorized results as Excellent (0-25), Suboptimal (26-50), Poor (51-75), or Critical (76-100). CONCLUSIONS: The Delphi-validated Monitoring Tools provide a structured, weighted, and clinically relevant framework for assessing treatment adequacy in haemophilia A and B across prophylactic and on-demand settings. These tools allow multidimensional outcome assessment and may support a more consistent, personalized therapeutic decision-making. A prospective validation of the tool in clinical cohorts is warranted.