Haemarthrosis of the ankle in haemophilia A and B: prevalence, impact and intervention

Haemophilia is an X-linked recessive genetic disorder characterised by bleeding within soft tissue and joints. Multi-joint disease is a common feature of severe haemophilia where the ankle is prone to haemarthrosis and haemarthropathy, but little is known about the effect on individual joints, impact on health-related quality of life (HRQoL) and foot and ankle outcome measures. A multi-methods approach was used to improve the understanding of ankle haemarthrosis and resultant haemarthropathy. The prevalence of ankle haemarthrosis and incidence at individual joints with concurrent joint health in patients compliant with prophylaxis without an active inhibitor were investigated. Approximately 60% and 40% of people with haemophilia A and B respectively experienced a minimum of one haemarthrosis over the 12 month study period. Whilst haemarthrosis incidence at individual joints was similar, the ankle was the most affected by haemarthropathy. A multi-centre patient questionnaire of the impact of ankle haemarthrosis and haemarthropathy identified that HRQoL and foot and ankle outcome measures were poor regardless of haemophilia type, severity or treatment regime. A consultant survey identified adequate access to Musculoskeletal (MSK) services across the UK. However, only 12% and 49% of patients used footwear and foot orthoses respectively. Finally, a biomechanical study was established in a healthy cohort of males, the kinetic and kinematic effect of the Leeds Ankle Stabilising Enhanced Rocker intervention, a footwear and foot orthoses intervention used clinically in the management of haemophilia. Significant reductions in the primary outcome of ankle moment of force were reported when compared to a trainer, with a minimal effect on proximal joints. The work presented in this thesis improves the understanding of the current prevalence, incidence and impact of ankle haemarthrosis and haemarthropathy. Gaps in the access to MSK services have been identified and the mechanism of action of a targeted intervention has been established, providing a basis for future research in a pathological cohort with ankle haemarthropathy.