In 37% of patients with moderate/severe haemophilia and low joint bleeding rates, joint health deteriorated over 5-10 years. Ankle and elbow joints showed deterioration most frequently. Factors found in this study help to identify which joints need frequent monitoring in patients with haemophilia with access to early prophylaxis.

Introduction Accurate assessment of joint health in persons with haemophilia is crucial. Several haemophilia‐specific measurement tools are available, but an overview of the measurement properties is lacking. Aim To provide an overview of the measurement properties of haemophilia‐specific measurement tools to assess clinical joint health. Methods MEDLINE and EMBASE were searched for reports on reliability, validity or responsiveness of the World Federation of Haemophilia Orthopedic Joint Score (WFH), Colorado Physical Examination Score (CPE), joint examination score by Petrini (PJS) and Hemophilia Joint Health Score (HJHS). Methodological quality of the studies was assessed using an adapted COSMIN checklist. Results The search yielded 2905 unique hits, and 98 papers were included. The methodological quality of the included studies was limited. The HJHS was studied most extensively, which yielded limited evidence for good internal consistency and structural validity, moderate evidence for hypothesis testing in adults and conflicting evidence for hypothesis testing in children. Reliability, measurement error and responsiveness were rated unknown due to low COSMIN scores. For the CPE and PJS, we found limited to moderate evidence for good responsiveness and conflicting evidence for hypothesis testing. Conclusion Only patchy evidence is available on the quality of measurement properties of all haemophilia‐specific joint health scores. Although significant gaps in the evidence for all instruments remain, measurement properties of the HJHS were most extensively studied and show no drawbacks for use in clinical practice. This review forms the basis for further research aimed at the assessment of measurement properties of measurement tools to assess joint health.

Introduction:Monitoring clinical outcome in persons with haemophilia (PWH) is essential in order to provide optimal treatment for individual patients and compare effectiveness of treatment strategies. Experience with measurement of activities and participation in haemophilia is limited and consensus on preferred tools is lacking. Aim:The aim of this study was to give a comprehensive overview of the measurement properties of a selection of commonly used tools developed to assess activities and participation in PWH.Methods: Electronic databases were searched for articles that reported on reliability, validity or responsiveness of predetermined measurement tools (5 self-reported and 4 performance based measurement tools). Methodological quality of the studies was assessed according to the COSMIN checklist. Best evidence synthesis was used to summarize evidence on the measurement properties. Results:The search resulted in 3453 unique hits. Forty-two articles were included.The self-reported Haemophilia Acitivity List (HAL), Pediatric HAL (PedHAL) and the performance based Functional Independence Score in Haemophilia (FISH) were studied most extensively. Methodological quality of the studies was limited. Measurement error, cross-cultural validity and responsiveness have been insufficiently evaluated. Conclusion:Albeit based on limited evidence, the measurement properties of the PedHAL, HAL and FISH are currently considered most satisfactory. Further research needs to focus on measurement error, responsiveness, interpretability and crosscultural validity of the self-reported tools and validity of performance based tools which are able to assess limitations in sports and leisure activities. K E Y W O R D Sactivities, haemophilia, measurement properties, outcome measure, participationThis is an open access article under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non-commercial and no modifications or adaptations are made. 4 According to the ICF "activity" is defined as "the execution of a task or action by an individual" and participation is defined as "involvement in a life situation". Consistent monitoring outcome at activity and participation level still needs to find its way into haemophilia care and research.Various haemophilia specific and generic tools for assessing activity and participation are available, but consensus on a preferred set of measurement tools is not yet reached. Differences in access to expensive clotting factor concentrates cause significant differences in joint status between PWH in different parts of the world. Differences between age groups, severity and cultural differences also contribute to heterogeneity in the haemophilia population. Moreover, measurement tools might be used for different purposes, eg. monitoring clinical outcome vs comparing treatment groups and evaluation of chronic complaints vs acute bleeds. A core set of measurement tools shou...

Joint bleeds in patients with haemophilia cause synovial hypertrophy and direct blood-related osteochondral changes. The ankles, knees and elbows are the most affected joints. To assess osteochondral changes in these joints, the radiologic Pettersson Score [1] and the clinical Gilbert Score [2] were developed. With the use of prophylactic replacement therapy the emphasis is on prevention of joint changes. As both scores are unable to detect early joint changes, the Gilbert score was further developed into the more sensitive Haemophilia Joint Health Score (HJHS) (2006) [3] and haemophilia-specific ultrasound protocols were introduced to assess synovial hypertrophy and cartilage defects. The 'Haemophlia Early Arthropathy Detection with UltraSound' (HEAD-US) protocol has been developed for non-radiologists, enabling direct assessment of joint health in conjunction with history taking and physical examination [4].Discrepancies between clinical function and imaging of haemophilia arthropathy (HA) are well known. In children with moderate or severe haemophilia on prophylaxis, routine ultrasound examination according to the HEAD-US protocol has shown to be able to detect osteochondral changes in joints without abnormalities on the HJHS and to evaluate whether minimal findings might be caused by osteochondral changes [5]. Yet, in adults, the value of HEAD-US in addition to HJHS has not yet been reported. The aim of this study is to explore the added value of routine HEAD-US examination after HJHS examination in adults with haemophilia.A retrospective cohort study was conducted using medical health records of adult patients with haemophilia collected during multidisciplinary check-up visits at the van Creveldkliniek at University Medical Center Utrecht between June 2015 and September 2015. Patients were excluded if they were wheelchair dependent, had a joint or muscle bleed <6 weeks prior to the assessment or underwent orthopaedic surgery <24 months prior to the assessment. No restrictions were made for severity of haemophilia. The study was approved by the Institutional Review Board of the University Medical Center Utrecht, The Netherlands.During the check-ups, both elbows, knees and ankles were examined according to the HJHS version 2.1 by a single physiotherapist (MT) with extensive experience with the HJHS. For each joint swelling (0-3), duration of swelling (0-1), atrophy (0-2), crepitus (0-2), range of motion (ROM) (flexion 0-3; extension 0-3), strength (0-4) and pain (0-2) were evaluated, adding up to a score between 0 and 20 per joint. Higher scores indicate worse joint function. Directly after HJHS examination, HEAD-US assessment was performed by one medical doctor (WF) [4]. The operator was trained according to the formal HEAD-US courses, including one initial training and two advanced HEAD-US courses. The HEAD-US protocol allows for the assessment and scoring regarding the degree of synovial hypertrophy (0-2), cartilage damage (0-4) and abnormalities of subchondral bone (0-2). Possible scores range from 0 to 8...