Hemophilia in the Era of Advanced Therapies: Structural Monitoring, the Role of Musculoskeletal Ultrasound, and a Proposed Multidisciplinary Care Model—A Structured Narrative Review

Background: Advances in hemophilia treatment, including extended half-life factor concentrates, non-replacement therapies, and gene therapy, have substantially reduced bleeding frequency and improved life expectancy. However, persistent musculoskeletal damage, subclinical bleeding, and residual arthropathy remain important clinical challenges despite improved hematologic control. Objective: We aimed to analyze recent therapeutic advances in hemophilia, examine persistent musculoskeletal complications, and propose a multidisciplinary care model based on structural monitoring, highlighting the role of musculoskeletal ultrasound. Methods: A structured narrative review with a reproducible search strategy was conducted following PRISMA 2020-informed methodological principles. PubMed/MEDLINE and Scopus were searched for clinically relevant studies published between 2018 and 2026 focusing on advanced hemophilia therapies, musculoskeletal complications, and structural monitoring. A total of 478 records were identified, and 13 studies were included after screening and selection using the Rayyan platform. Results: Modern therapies markedly reduce clinically evident hemarthroses, but structural joint alterations and subclinical disease activity may persist, particularly in patients with pre-existing arthropathy. Imaging-based studies identified persistent synovial and osteochondral alterations despite effective hematologic control. Magnetic resonance imaging remains the reference standard for structural assessment, although its routine use may be limited by accessibility and cost. Musculoskeletal ultrasound emerges as an accessible and reproducible tool for dynamic joint evaluation and early detection of structural alterations, supporting longitudinal monitoring and individualized rehabilitation strategies. Conclusions: In the era of advanced therapies, comprehensive hemophilia management requires not only effective hematologic control but also structured musculoskeletal follow-up. The integration of musculoskeletal ultrasound into multidisciplinary care models may favor earlier detection of joint alterations and more individualized rehabilitation strategies.

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Publication Details

Journal
Diagnostics
Published
2026-05-29
DOI
https://doi.org/10.3390/diagnostics16111683
Primary Topic
Hemophilia Treatment and Research
Type
article
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article

Hemophilia in the Era of Advanced Therapies: Structural Monitoring, the Role of Musculoskeletal Ultrasound, and a Proposed Multidisciplinary Care Model—A Structured Narrative Review

F. Querol‐Fuentes, Felipe Querol‐Giner, Sofia Perez-Alenda, Magdalena Querol-Giner
Diagnostics
Hemophilia Treatment and Research
article

Hemophilia in the Era of Advanced Therapies: Structural Monitoring, the Role of Musculoskeletal Ultrasound, and a Proposed Multidisciplinary Care Model—A Structured Narrative Review

F. Querol‐Fuentes, Felipe Querol‐Giner, Sofia Perez-Alenda, Magdalena Querol-Giner
article en

Abstract

Background: Advances in hemophilia treatment, including extended half-life factor concentrates, non-replacement therapies, and gene therapy, have substantially reduced bleeding frequency and improved life expectancy. However, persistent musculoskeletal damage, subclinical bleeding, and residual arthropathy remain important clinical challenges despite improved hematologic control. Objective: We aimed to analyze recent therapeutic advances in hemophilia, examine persistent musculoskeletal complications, and propose a multidisciplinary care model based on structural monitoring, highlighting the role of musculoskeletal ultrasound. Methods: A structured narrative review with a reproducible search strategy was conducted following PRISMA 2020-informed methodological principles. PubMed/MEDLINE and Scopus were searched for clinically relevant studies published between 2018 and 2026 focusing on advanced hemophilia therapies, musculoskeletal complications, and structural monitoring. A total of 478 records were identified, and 13 studies were included after screening and selection using the Rayyan platform. Results: Modern therapies markedly reduce clinically evident hemarthroses, but structural joint alterations and subclinical disease activity may persist, particularly in patients with pre-existing arthropathy. Imaging-based studies identified persistent synovial and osteochondral alterations despite effective hematologic control. Magnetic resonance imaging remains the reference standard for structural assessment, although its routine use may be limited by accessibility and cost. Musculoskeletal ultrasound emerges as an accessible and reproducible tool for dynamic joint evaluation and early detection of structural alterations, supporting longitudinal monitoring and individualized rehabilitation strategies. Conclusions: In the era of advanced therapies, comprehensive hemophilia management requires not only effective hematologic control but also structured musculoskeletal follow-up. The integration of musculoskeletal ultrasound into multidisciplinary care models may favor earlier detection of joint alterations and more individualized rehabilitation strategies.

DiagnosticsVol. 16(11)
Universitat de València (ES), Hospital Clínico Universitario de Valencia (ES)
Openalex Percentile: Top 6%
Hemophilia Treatment and Research
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