Joints, functioning and movement behaviour in haemophilia

Abstract

Haemophilia is characterized by bleeding longer after an injury, easy bruising, and an increased risk of bleeding inside joints and muscles. Recurrent joint bleeds lead to haemophilic arthropathy (HA). Joint pain, limitations in range of motion and muscle atrophy are the hallmark of HA, resulting in limitations in activities and participation. Persons with haemophilia (PWH) therefore require lifelong (prophylactic) treatment with clotting factor replacement therapy. However, PWH under intermediate dose prophylactic therapy still experience approximately 2 joint bleeds annually and clotting factor replacement is associated with high costs (180.000 US$ per patient annually). The comprehensive care team supports patients to optimize self-management and participation, with a specific role for the physiotherapist in supporting patients with bleed recognition, early detection of impairments in joint health, activities and participation by regular monitoring and supporting patients in achieving and maintaining optimal movement behaviour. The aim of this thesis was to provide a basis for the evaluation of joints, provide a basis for monitoring joint health, activities and participation and provide insight in movement behaviour of persons with haemophilia. Differentiating between joint bleeds and flare-ups of HA is not always straightforward, but essential to provide optimal care and decrease healthcare costs. A narrative literature review on symptoms associated with joints bleeds and HA and additional techniques that can be valuable for differentiating showed that there is no consensus about the symptoms associated with joint bleeds and that there is limited literature about the symptoms associated with HA, however a diagnosis based on clinical symptoms is still the most practical solution for patients to perform at home. Based on the results from focus group interviews we made an initial proposal of items to include in a diagnostic criteria set; 1) course of the symptoms, 2) cause of the complaints, 3) joint history, 4) type of pain and 5) degree of impairments in range of motion. The need to monitor persons with haemophilia on all levels of the ICF model is increasingly accepted, but a core outcome set is not yet available. Two systematic literature studies showed that measurement properties of the HJHS (physical examination), (ped)HAL (questionnaire) and FISH (performance based test) were most extensively studied, but significant gaps exists in the evidence on measurement properties. Further studies showed that in joints with minimal loss of function, HEAD-US (ultrasound) assessment may be used to evaluate whether impaired joint function is caused by intra-articular changes. In apparently healthy joints according to the HJHS, HEAD-US may detect minimal osteochodral changes. Furthermore, monitoring of all 6 joints included in the HJHS may only be needed every 5 years, when single joints are monitored more frequently in case of bleeding or other complaints. Adults with haemophilia experience increased limitations in activities due to haemophilic arthropathy. A cross-sectional study shows that movement behavior of adults with severe haemophilia differs from healthy adults, mainly due to less walking and less running. A hierarchical cluster analysis classified the majority of PWH as sedentary, whereas less sitting and regular walking during the day seemed to be more beneficial.