Key Clinical Summary: Monitoring Joint Health in Mild and Moderate Hemophilia A

This is a micro-learning module summary of Dr Susan Knight’s session which you can find here. Before participating, please read our CME and disclosure information which can be found here.

Acknowledgment: This program is supported by an independent education grant from Bayer. This online education program has been designed for healthcare professionals in the United States only.

Introduction

Joint disease can develop even in patients with mild and moderate hemophilia A, often in the absence of reported bleeds. Early joint bleeding, overt or subclinical, initiates synovial inflammation, hypertrophy, cartilage injury, and ultimately degenerative arthropathy. Because these changes accumulate slowly over years, structured, proactive joint surveillance is essential for timely intervention and preservation of long-term musculoskeletal function.

Why Joint Surveillance Matters

Hemophilia-related joint damage can occur after a single hemarthrosis. The pathological cascade progresses through synovial inflammation, cartilage degeneration, fibrosis, and late-stage bone changes. Importantly, many non-severe patients under-report injuries, continue activity despite symptoms, or present with inconclusive clinical exams, allowing early damage to go unnoticed. Subclinical bleeding is a recognized phenomenon and contributes silently to joint decline.

Bleeding Patterns Across Severity

• Severe hemophilia: More overt spontaneous bleeds; easier to identify clinically. The clinical exam usually confirms joint bleeding diagnosis.
• Mild and moderate hemophilia: Injuries may not interrupt activity; symptoms are tolerable; swelling can be subtle; and clinical exams often fail to localize bleeding without targeted imaging. Under-reporting delays care and increases the likelihood of unrecognized joint injury.

Evidence Supporting Close Surveillance

Recent studies highlight the prevalence of subclinical arthropathy in non-severe hemophilia:

• Joint status of patients with nonsevere hemophilia A (MRI study in adults, Zwagemaker et al, 2022): Despite minimal lifetime bleeds, many patients demonstrated hemosiderin deposition, most commonly in the ankles, and often without clinical signs, indicating prior subclinical bleeding.
• Real-World Evidence on Joint Condition in Non-Severe Hemophilia A Patients: A Multicenter Study (head-US + HJHS, Marco-Rico et al, 2025): Ultrasound detected early joint changes in ~50% of patients who had no (or few) documented joint bleeds. This study confirms the value of imaging beyond bleeding history.
• Joint health status in people with moderate hemophilia A: a cross-sectional multicenter study (moderate hemophilia, Calcaterra et al, 2025): Over 20% had osteochondral damage despite on-demand therapy and low reported bleeding rates. This study offers practical model for integrating point-of-care ultrasound into follow-up.

These findings underline the limitations of relying on bleed counts alone and support integrating imaging into routine surveillance.

Clinical Assessment: Practical Approach

It is critical to be open and curious about any report of musculoskeletal injuries or pains. Clinicians should ask if there has been any issues or changes in their activities and their participation in the last 6-12 months. Patients should be educated about the importance of responding to injuries immediately and communicating with the Hemophilia Treatment Center (HTC) when needed.

Joint evaluation should combine physical exam, patient-reported outcomes, and imaging.

1. Physical Examination: Physical Examination and HJHS 2.1 The Hemophilia Joint Health Score (HJHS 2.1) remains the gold standard for assessing joint status in children and adults with hemophilia. It captures subtle joint abnormalities that may not be evident through routine examination. Key assessment areas include:

• Swelling: Graded 0–3 (0 = none; 1 = mild puffiness; 2 = moderate with obscured bony landmarks; 3 = severe with marked swelling and spongy feel).
• Duration of swelling: A score of 1 reflects swelling persisting >6 months and may indicate chronic synovitis.
• Muscle atrophy: Comparison of limb symmetry to detect disuse-related changes.
• Crepitus of motion: Palpable or audible grinding suggestive of cartilage involvement.
• Joint pain: With specific attention to pain during motion or palpation.
• Global gait: Observation of walking, running, hopping, and stair navigation for compensatory patterns.
• Range of motion (ROM) and strength: PT- or physiatrist-specific assessments that help quantify functional limitations.

Swelling and duration of swelling are particularly important because they can be evaluated rapidly in any clinical setting. Palpation around the ankles, knees, and elbows, front and back, helps detect subtle puffiness that may reflect underlying bleeding or synovial hypertrophy.

1. Imaging Modalities:

• MRI: Gold standard for detecting early and subclinical changes, but limited by cost, access, and timing.
• Ultrasound (including POCUS, HEAD-US, and JADE): Highly practical for routine clinics; reliably detects synovial changes, early arthropathy, and the presence or absence of bleeding. Studies show ultrasound identifies synovitis even when HJHS is normal.
• X-ray: Limited to identifying later-stage structural damage.

A combined approach, such as HJHS plus ultrasound, provides the most sensitive and clinically actionable surveillance strategy.

A recent study (Assessing joint health in haemophilia patients: The combined value of physical examination and ultrasound imaging, Gualtierotti et al, 2024) highlighted that despite the good correlation between HJHS and ultrasound, this last one was able to find synovitis in 40% of cases assessed with no swelling on HJHS.

Integrating Surveillance into Care Pathways

Effective long-term monitoring requires multidisciplinary coordination:

• HTC teams (MD/NP, social worker, psychologist and physical therapist) should perform comprehensive joint exams, incorporate ultrasound into routine visits, and adjust treatment based on evolving findings.
• Primary care clinicians can support by checking key joints for swelling, responding promptly to injury reports, and referring for imaging when symptoms suggest possible bleeding.
• Consistent communication between primary care and HTC teams ensures timely detection and intervention.

Conclusion

Non-severe hemophilia does not equate to low joint risk. Subclinical and under-recognized bleeding can lead to meaningful joint pathology even in the absence of reported bleeds. Routine, structured assessment using HJHS combined with imaging, especially ultrasound, provides the most reliable approach for early detection. Integrating these tools within multidisciplinary care supports precise, individualized management and protects joint health across the lifespan.

Content is accurate as of the date of release on 6 January 2026.