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Introduction: Early diagnosis of joint damage is pivotal in haemophilia to prevent the occurrence and progression of haemophilic arthropathy thus providing optimal personalised management. The haemophilia joint health score version 2.1 (HJHS) is based on a physical examination of the mainly affected joints. Musculoskeletal ultrasound has demonstrated the capability to detect early changes in terms of synovitis and osteochondral damage. The haemophilia early detection with ultrasound (HEAD‐US) score has been proposed as a simple and reliable evaluation tool. Aim: This study aims to investigate the correlation between the HJHS and the HEAD‐US scores performed by two independent operators (physical therapist and musculoskeletal ultrasound expert) for the evaluation of the joint health status of patients with haemophilia. Methods: Consecutive adult patients independent of the severity degree were included. Elbows, knees and ankles were evaluated by a physical therapist by HJHS and by a musculoskeletal ultrasound expert following the HEAD‐US protocol. Results: We observed a good positive correlation between HJHS and HEAD‐US (Spearman's rho 0.72). The main discrepancy in conceptually similar domains was found between the HJHS swelling and the HEAD‐US synovitis (rho 0.17), as ultrasound was able to detect even mild synovitis when HJHS swelling was scored 0 in up to 40% of cases. Conclusions: The HJHS and HEAD‐US correlate well even when performed by two independent operators. Musculoskeletal ultrasound is particularly useful for the early detection of synovitis. The routine assessment of both scores helps clinicians define the stage and extension of joint involvement and set up a personalised treatment. [ABSTRACT FROM AUTHOR]

Introduction: Considering the advances in haemophilia management and treatment observed in the last decades, a new set of value‐based outcome indicators is needed to assess the quality of care and the impact of these medical innovations. Aim: The Value‐Based Healthcare in Haemophilia project aimed to define a set of clinical outcome indicators (COIs) and patient‐reported outcome indicators (PROIs) to assess quality of care in haemophilia in high‐income countries with a value‐based approach to inform and guide the decision‐making process. Methods: A Value‐based healthcare approach based on the available literature, current guidelines and the involvement of a multidisciplinary group of experts was applied to generate a set of indicators to assess the quality of care of haemophilia. Results: A final list of three COIs and five PROIs was created and validated. The identified COIs focus on two domains: musculoskeletal health and function, and safety. The identified PROIs cover five domains: bleeding frequency, pain, mobility and physical activities, Health‐Related Quality of Life and satisfaction. Finally, two composite outcomes, one based on COIs, and one based on PROIs, were proposed as synthetic outcome indicators of quality of care. Conclusion: The presented standard set of health outcome indicators provides the basis for harmonised longitudinal and cross‐sectional monitoring and comparison. The implementation of this value‐based approach would enable a more robust assessment of quality of care in haemophilia, within a framework of continuous treatment improvements with potential added value for patients. Moreover, proposed COIs and PROIs should be reviewed and updated routinely. [ABSTRACT FROM AUTHOR]

Introduction: Haemophilia is a rare congenital bleeding disorder, and the most common manifestation is spontaneous bleeding in muscles and joints. Despite the benefits linked to recent and dramatic pharmacological advances at least in high income setting, many patients still develop musculoskeletal dysfunctions during their lifetime, which must be managed by physiotherapists in the frame of a multidisciplinary team. The aim of the scoping review is to map the available evidence by providing an overview on the past and present physiotherapy scenario in persons with haemophilia (PWH). Materials and methods: The review was conducted according to the guidelines of the PRISMA extension for scoping reviews. Scientific articles on physiotherapy and sport interventions for PWH published from 1960 up to September 2021 have been included. Search was conducted on the e‐databases PubMed and PEDro without restrictions for the study design. Results: Sixty eight articles were included, 52 related to rehabilitation and preventive physiotherapy, 16 to sport. The results have been reported in chronological order and divided into two categories: (1) rehabilitation and preventive physiotherapy; (2) sport activities. Conclusions: This is the first scoping review on physiotherapy in haemophilia, based on the existing evidence on this topic which allowed us to underline how the role of the physiotherapist changed over time. Historically this specialist did intervene only after an acute bleed or surgical operation, but now he has a pivotal role in the multidisciplinary team that acts to improve from birth the quality of life of the PWH. His activity is also closely intertwined with sport promotion and supervision. [ABSTRACT FROM AUTHOR]

Summary: Although synovitis is recognized as a marker of joint disease activity, its periodic assessment is not included in routine clinical surveillance of patients with haemophilia (PwH). In order to evaluate the current knowledge and to identify controversial issues, a preliminary literature search by the Musculoskeletal Committee of the Italian Association of Haemophilia Centres (AICE) has been conducted. Statements have been established and sent to the Italian AICE members to collect their level of agreement or disagreement by a Delphi process. Thirty‐seven consensus recommendations have been drafted. We found a general agreement on the indication to consider the presence of synovitis as a marker of joint disease activity in PwH. Accordingly, there was agreement on the indication to search for synovitis both in patients reporting joint pain and in asymptomatic ones, recognizing ultrasound as the most practical imaging technique to perform periodic joint screening. Interestingly, after detection of synovitis, there was agreement on the indication to modify the therapeutic approach, suggesting prophylaxis in patients treated on demand and tailoring treatment in patients already under prophylaxis. Whereas the need of an early consultation with a physiotherapist is recommended for PwH affected by chronic synovitis, the exact timing for an orthopaedic surgeon consultation is currently unknown. [ABSTRACT FROM AUTHOR]

In persons with haemophilia (PWH), rehabilitation programmes based upon physical exercise must be implemented as adjuvants to factor replacement or non-factor therapies,1,2 with the goal to improve proprioception, balance, resilience and overall the quality of life.3,4 Exercises should be simple enough to attain adherence but also enjoyable enough to avoid boredom, frustration and fatigue, that inevitably lead PWH to give them up. With this background and unmet needs, we chose to evaluate the feasibility and acceptability but also the preliminary efficacy of an exercise-based rehabilitation programme engaging at home young PWH. This programme, newly based upon the use of exercise videogames (exergames) specifically designed for telerehabilitation,5-8 was conceived to make physical activity amusing and appealing, but at the same time to allow physiotherapists to monitor and supervise at distance if and how PWH exercised. [Extracted from the article]

Introduction: Haemophilia is a recessive X‐linked inherited bleeding disorder, whose typical symptom is spontaneous intra‐articular haemorrhage leading to joint damage, which can be quantified by the Haemophilia Joint Health Score (HJHS). Arthropathy and other characteristics of haemophilic patients may reduce bone mineral density (BMD), increasing the risk for fragility fractures, which also may occur due to bone quality impairment. Aim: To evaluate bone quantity by BMD and bone quality by Trabecular Bone Score (TBS), bone strain (BS) and hip structural analysis (HSA) in a haemophilic population, and to relate these parameters to general and specific risk factors for osteoporosis and to HJHS. Methods: Seventy haemophilic patients ≥18 years were enrolled. Densitometric derived lumbar spine and femoral BMD with TBS, BS and HSA were performed. Data regarding risk factors for osteoporosis, presence of arthroprosthesis or arthrodesis were collected, and HJHS was calculated. A Z‐score ≤−2.0 defined a low bone mass. Results: Overall, a reduced bone mass was present in 52 patients at the femur and in 38 at the lumbar spine. Lumbar spine BMD, TBS and BS did not correlate with HJHS. HSA bone geometric parameters correlated negatively with HJHS. BMD and HSA correlated with some risk factors for osteoporosis, namely HIV and its therapy, hepatitis C and smoking. Conclusions: Haemophilic patients showed a reduced BMD at lumbar spine and/or femur. Femoral bone density and geometry correlated with HJHS. The microarchitecture of the trabecular vertebral bone seemed to be not influenced by the haemophilic joint damage. [ABSTRACT FROM AUTHOR]