Retrospective Comparison of Musculoskeletal Ultrasound and Magnetic Resonance Imaging for Detecting Hemophilic Arthropathy

Summary

This retrospective diagnostic-accuracy study evaluated MSK-US against MRI for hemophilic arthropathy in 150 patients, with one representative joint analyzed per patient. MSK-US demonstrated high sensitivity and performed best for synovial abnormalities, whereas MRI remained superior for detecting structural damage. Findings reflect a clinically selected cohort with a high prevalence of arthropathy.

Abstract

Hemophilic arthropathy is a major cause of morbidity in patients with hemophilia, resulting from recurrent joint bleeding and progressive synovial and osteochondral damage. Although magnetic resonance imaging (MRI) is the reference standard for evaluating hemophilic joints, its routine use is limited by cost and accessibility. Musculoskeletal ultrasound (MSK-US) has emerged as a practical alternative; however, its diagnostic performance relative to MRI requires further evaluation. The objective of this study is to evaluate the diagnostic accuracy of MSK-US for detecting hemophilic arthropathy using MRI as the reference standard. This retrospective diagnostic accuracy study included 150 patients with hemophilia who underwent both MSK-US and MRI of the same joint within a three-month interval. Ultrasound positivity was defined as the presence of at least one abnormal feature (synovial hypertrophy, joint effusion, cartilage damage, or bone erosion). Sensitivity, specificity, positive predictive value (PPV), negative predictive value (NPV), likelihood ratios, and Cohen’s kappa were calculated. ROC analysis was performed using HEAD-US scores. MSK-US demonstrated a sensitivity of 91.1%, specificity of 78.9%, PPV of 92.7%, NPV of 75.0%, and overall accuracy of 88.0%. Agreement with MRI was good for synovial hypertrophy (κ = 0.72) and joint effusion (κ = 0.69), and moderate for cartilage damage (κ = 0.58) and bone erosion (κ = 0.55). ROC analysis showed good overall diagnostic performance (AUC = 0.86; 95% CI, 0.80–0.91). Diagnostic performance was highest for synovial abnormalities and lower for structural joint damage. MRI-confirmed arthropathy was present in 74.7% of patients, reflecting a selected cohort with a high prevalence of joint pathology. In this selected retrospective cohort, MSK-US demonstrated good diagnostic performance for detecting hemophilic arthropathy, particularly synovial abnormalities. MSK-US may serve as a complementary tool for clinical assessment, triage, and longitudinal monitoring, while MRI remains important for comprehensive evaluation of structural joint damage.

Introduction

Hemophilia is a hereditary bleeding disorder caused by a deficiency of clotting factor VIII or IX, leading to recurrent bleeding episodes, most commonly into joints. Repeated hemarthrosis initiates a cascade of synovial inflammation, hypertrophy, and progressive cartilage and bone destruction, ultimately resulting in hemophilic arthropathy, a major cause of chronic pain and disability in affected individuals^1,2. Despite advances in prophylactic therapy and the introduction of newer non-factor therapies, joint disease remains prevalent, particularly among patients with prior bleeding exposure, delayed initiatio....

Protocol

This study was conducted in accordance with the principles of the Declaration of Helsinki. Ethical approval was obtained from the Institutional Ethics Committee of Panzhihua Hospital of Integrated Traditional Chinese and Western Medicine (The Affiliated Hospital of Panzhihua University), Panzhihua, China (Approval No. 2024ZD-S-4). As this was a retrospective study based on anonymized clinical and imaging records, the requirement for written informed consent was waived by the ethics committee. All patient data were handled confidentially and anonymized prior to analysis.

Study design and setting
This retrospective cros....

Results

Participants
Flow of participants
A total of 182 patients were identified during the study period. Of these, 32 patients were excluded due to incomplete imaging data (n = 14), an interval greater than three months between MSK-US and MRI (n = 10), and prior joint surgery (n = 8). The final analysis included 150 patients, each contributing one representative joint, resulting in a total of 150 joints analyzed (Figure 1). Both pediatric and adult patient.......

Discussion

In this study, MSK-US demonstrated high sensitivity (91.1%) and good overall diagnostic performance (AUC = 0.86) for detecting hemophilic arthropathy using MRI as the reference standard. Feature-level analyses demonstrated the highest diagnostic performance for synovial hypertrophy and joint effusion, whereas sensitivity, specificity, and agreement were lower for cartilage damage and bone erosion. These findings are consistent with the known strengths of ultrasound in detecting synovial abnormalities and its more limited.......

Materials

List of materials used in this article

Name	Company	Catalog Number	Comments
Electronic Medical Record (EMR) System	Hospital Information System (HIS)	Institutional software platform	Used for retrieval of demographic, clinical, and treatment data
High-frequency Linear Ultrasound Transducer	GE Healthcare (Chicago, IL, USA)	L6–15-D	Primary transducer used for musculoskeletal ultrasound examinations
Magnetic Resonance Imaging (MRI) Scanner	Siemens Healthineers (Erlangen, Germany)	MAGNETOM Aera, 1.5 T	Reference-standard imaging modality for assessment of hemophilic arthropathy
PACS Image Archive System	GE Healthcare (Chicago, IL, USA)	Centricity PACS	Used for storage and review of ultrasound and MRI examinations
Statistical Analysis Software	IBM Corp. (Armonk, NY, USA)	SPSS Statistics Version 26.0	Used for diagnostic accuracy, ROC, and agreement analyses
Ultrasound Imaging System	GE Healthcare (Chicago, IL, USA)	LOGIQ E9	Diagnostic musculoskeletal ultrasound system used for image acquisition