How to assess, detect, and manage joint involvement in the era of transformational therapies: Role of point‐of‐care ultrasound

Abstract

Background: Patients with haemophilia experience recurring hemarthroses, mainly involving knees, elbows and ankles, which lead to haemophilic arthropathy, the major chronic complication of haemophilia. With new approaches to haemophilia treatment leading to fewer joint bleeds and, in some cases, no bleeding events, assessing whether current outcome assessment tools provide adequate sensitivity and specificity for management and care of patients with haemophilia is needed.Methods: An overview of current imaging tools for monitoring joint health, novel osteochondral damage and synovial proliferation biomarkers, and the relationship between assessments for functionality and imaging modalities is provided. Usefulness and sensitivity of point-of-care ultrasound (POCUS) to complement other assessments and use of ultrasound to monitor haemophilic arthropathy are also examined. Results:This review provides rationale for haemophilia teams to move beyond traditional outcomes in joint imaging, as well as guidance and evidence on assessment of joint health for potential new treatment modalities, such as gene therapy. The role of POCUS in the existing paradigm for haemophilia care and management along with the use of ultrasound as a complement to other outcome assessment tools are also discussed. Finally, the clinical effects of subclinical bleeding on joint function are described, to motivate screening for synovial proliferation. Conclusion:POCUS can facilitate the early detection of joint damage and can monitor disease progression while providing insights into the efficacy of treatment regimens, and should be considered as an essential assessment tool for managing the care of patients with haemophilia.

Orthopedic surgical procedures in people with hemophilia

“…According to Ray et al [8] radiological evaluation is crucial in the assessment and follow-up of musculoskeletal complications of hemophilia (hemophilic arthropathy, intramuscular hematomas, hemophilic pseudotumors) and magnetic resonance imaging (MRI) is the gold standard. It has been recently reported that POCUS (point-of-care ultrasound) can ease the early discovery of articular damage and can monitor illness advancement while rendering insights into the effectiveness of treatment regimens, and should be deemed as a vital evaluation tool for managing the care of PWH [9]. In adults with hemophilia, physical examination and POCUS study render complementary information on their joint illness.…”

Haemophilic arthropathy: Diagnosis, management, and aging patient considerations

“…It is particularly helpful in the evaluation of synovial proliferation, a surrogate of disease activity, and in more accurate evaluation of painful musculoskeletal episodes. 18,19 Compared to MRI, US is more sensitive in distinguishing bloody from non-bloody effusions 20 and has high to excellent correlation with MRI for detecting pathological soft tissue. 21 US can also provide a general idea of the osteochondral surface, revealing marginal bone erosions, superficial subchondral cysts, and peripheral articular cartilage defect.…”

“…X-rays and clinical exam are less sensitive to early changes. POC-MSKUS is a safe, cost-effective, readily available, and sensitive tool that allows for accurate diagnosis of acute haemarthrosis 19,26,33,34 and serial evalua-tion of synovial proliferation (active vs. inactive) 18,28,29 and the overall condition of osteochondral surfaces of index joints in PwH. 22,26 It is crucial to point out that while early diagnosis and management of haemophilic arthropathy is becoming more relevant for clinical management and individualised patient regimens 29 evidence to conclude that US-detectable findings are sensitive to or could inform changes or intensification of prophylactic therapy in PwH remains insufficient.…”

Outcomes and outcome measures

“…the Denver Score and the International Prophylaxis Study Group) and ultrasound (e.g. Haemophilia Early Arthropathy Detection with Ultrasound [HEAD‐US], Joint Tissue Activity and Damage Exam [JADE] and the Universal Simplified Ultrasound [US‐US] protocol) 8 …”