Evaluation of early musculoskeletal disease in patients with haemophilia

Abstract

Early joint damage in patients with haemarthrosis often escapes diagnosis because of insufficient investigation of biomechanical changes. Arthropathy in haemophilia requires complex assessment with several tools. Considering the increased emphasis on an integrated approach to musculoskeletal (MSK) outcomes, re-evaluation of MSK assessment to address individual patient needs is warranted. To advise on the optimal use of current assessment tools and strategies for tailored MSK evaluation in patients with haemophilia. A panel of experts in haemophilic arthropathy evaluated internationally recognized assessment tools through published literature and personal expertise. Each tool was considered, scored and ranked for their utility in the clinical assessment of MSK damage. Subsequently, a patient evaluation table detailing advice on type and frequency of assessments for different patient populations was constructed. To obtain a complete MSK assessment, multiple tools must be used to ensure each criterion is evaluated. For patients with haemophilia, clinical examination of the joint, disease-specific structure/function scores, and activity/participation scores including quality of life are important, and should be performed on a regular basis according to age and clinical condition. Joint imaging is recommended in the prevention, diagnosis and follow-up of haemophilic arthropathy and should be used in conjunction with joint structure and function scores. An integrated approach to MSK assessment using combinations of tools will allow earlier management of dysfunction and may improve long-term outcomes. This approach could be used in long-term follow-up of all patients independent of age and disease stage, especially in children to prevent arthropathy.

Ultrasound evaluation of joint damage and disease activity in adult patients with severe haemophilia A using the HEAD‐US system

“…This finding underscores the unmet medical need to implement an imaging procedure suitable for routine office visits that is easy to perform by non‐imaging specialists, a strategy that would provide more accurate monitoring and an objective follow‐up of haemophilic arthropathy. In this context, our study supports recent evidence 5,13‐15,28 and supports the usefulness of the ultrasound assessment using the HEAD‐US scoring system for patients with severe HA.…”

“…A closer follow‐up of joint status using ultrasound is advisable as it could disclose undetected problems related to lack of therapeutic compliance with prophylaxis or joint overload related to simple activities or sports 12‐14,31 . Unexpected synovial hypertrophy in patients fully covered by prophylaxis who have joints with suspected active disease, can bring unnoticed causes of therapy failure to the clinician's notice and may initiate the prompt implementation of corrective measures to stop disease progression 5,16 . In our series, we found grade‐2 synovitis in a considerable percentage of patients receiving SP and TP.…”

“…One third of the haemophilia population in Europe comprises individuals with severe HA and clotting factor VIII plasma levels below 1%, 3 which makes spontaneous joint bleeding events a common clinical feature in these patients. If not treated, haemarthrosis leads to inflammation, synovial hypertrophy and osteochondral changes 4,5 . Indeed, in the absence of appropriate treatment, chronic haemophilic arthropathy develops in approximately 90% of individuals with severe HA, with a subsequent impact on patients’ physical activity and quality of life 3,6 .…”

Evaluation of the U.S. Adherence Questionnaires VERITAS-PRO and VERITAS-PRN for Use in Patients with Hemophilia in the German Healthcare System

“…Their aim was to help optimize joint evaluation in PWH. 43 The 16 tools were designed to assess structure/function, imaging techniques, activity, participation, objective functional measurements, etc. The authors used two scoring systems: (1) 4point Likert scale ranging from 0 (e.g., no suitability/slow/ difficult) to 3 (e.g., high suitability/rapid/easy) and (2) Yes/ No questions.…”

Merging into the mainstream: the evolution of the role of point-of-care musculoskeletal ultrasound in hemophilia

“…Evaluation of HA is a dynamic, multi-dimensional process which employs clinical outcome assessment tools, including the World Federation of Hemophilia Physical Examination Score (Gilbert score), the hemophilia joint health score (HJHS) 17 – 19 , and a number of imaging modalities 20 , 21 . X-ray grading systems/scores include the Arnold–Hilgartner score (progressive, soft tissue assessment included) 22 and the World Federation of Hemophilia–recommended and widely used Pettersson score (additive, soft tissue excluded) 23 .…”