Volume 10 (2023): Issue 1 (January 2023)

The Registries Workstream recommended establishing rights- and responsibility-based international guidance to ensure accountability from all stakeholders contributing, collecting, handling and registry data. The Hub and Spoke Model Workstream proposed the development of a dynamic and agile health provision system to meet individual treatment, care and quality of life goals for people with rare disorders as they evolve. The Patient Agency Workstream recommended achieving a new cultural norm for patient agency embedded at all systemic levels, whereby health care is collaborative and based on patients’ ability to make choices and take ownership of decisions relating to their care and quality of life.

Four common themes emerged in near star milestones across all workstreams: 1. Mapping the system; 2. Collaborating and sharing; 3. Education and training; 4. Organisational change and good governance. Enablers include stakeholder experience in other specialties undergoing similar change; relevant examples of best practice; tapping into existing policy-making networks; adherence to government, regulatory, and inter-/intra-institutional quality standards; leveraging frustration in current systems to challenge mindsets and demonstrate the benefit of patient-centred insights to improve outcomes; and application of technologies (e.g. distributed analytics, algorithms, telemedicine, remote monitoring). Constraints include limited understanding of national and cross-border legal and regulatory requirements; a lack of awareness of and reluctance to accept the need for change or to take responsibility for making it happen, or a misunderstanding of whose responsibility it is; time limitations; a lack of meaningful outcome measures; a lack of understanding of key factors for success; and financial issues.

Despite the availability of factor replacement therapy, including prophylaxis, to treat and prevent bleeding, haemophilic arthropathy continues to be the most common complication of haemophilia and significantly impairs the quality of life in people with haemophilia (PwH). Regular periodic assessment of joint status in PwH is essential to identify early arthropathic changes and prevent the development or progression of haemophilic arthropathy. Kinematic and kinetic assessment are preferable and MRI is the gold standard for diagnosing haemophilic arthropathy, but availability is limited in developing countries. HJHS and ultrasound in conjunction with HEAD-US have been shown to effective in assessing changes indicating arthropathy.

This study is designed to identify which radiological assessment tool(s) works best when integrated with clinical assessment tools to examine joint health in PwH, with the aim of establishing a cheap, effective, multimodal approach to joint assessment in clinical practice in low resource settings which can then help to guide treatment.

A cross-sectional observational study was carried out among PwH attending a clinic in the department of medicine at Assam Medical College and Hospital, Northeast India, over a one-year time period. The elbow, knee and ankle joints of participants were assessed clinically and functionally using HJHS and FISH and radiologically by Pettersson (X-ray) and HEAD-US (ultrasound) scoring. The resulting data was analysed statistically to ascertain correlation between these parameters.

Sixty-seven PwH were enrolled in the study, with a mean age of 21.69±8.24 years (median 21 years); 38 (57.72%) had severe factor deficiency. The majority (71.70%) presented with joint bleeds; 40 (59.70%) had the knee as a target joint, followed by the elbow (11; 16.41%) and ankle (6; 8.95%). Mean ABR (annual bleed rate), AJBR (annual joint bleed rate) and ATJBR (annual target joint bleed rate) values had a positive correlation with increased severity of factor deficiency (p <0.001). FISH score increased with factor activity level; HJHS, HEAD-US and Pettersson scores decreased with factor activity level. Significant positive correlation was established between Pettersson score, age and ABR. The degree of association was greatest between HJHS and HEAD-US at 60.62%; between HJHS and Pettersson it was 57.74%. Statistically significant negative correlation was established between FISH and HEAD-US.

A combined multimodal approach using the HJHS, FISH and HEAD-US scoring systems can provide a cheap, quick, more reliable and accurate option for assessing haemophilic joints, with minimal inter and intra observer reliability. This can support the optimisation of management of joint damage in PwH in resource-constrained settings.