Joint Health, Balance and Quality of Life in Adults With Hemophilia A

Hemophilia is a hereditary bleeding disorder characterized by recurrent bleeding episodes, particularly into joints and muscles, leading to chronic musculoskeletal complications. Repeated joint bleeding may result in hemophilic arthropathy, which is associated with progressive joint damage, chronic pain, reduced mobility, and functional limitations. Advances in prophylactic treatment have significantly improved life expectancy in individuals with hemophilia; however, long-term musculoskeletal complications continue to affect daily functioning and overall well-being. Therefore, the evaluation of health-related quality of life (QoL) has become increasingly important in adults with hemophilia, as it reflects the broader impact of the disease beyond clinical severity.

Joint health is considered one of the major determinants of physical functioning in people with hemophilia. Hemophilic arthropathy may lead to chronic pain, muscle weakness, reduced range of motion, and impaired physical performance. In addition to structural joint changes, impairments in neuromuscular function, including reduced proprioception, muscle strength, and postural control, may also contribute to activity limitations. Balance impairments may increase the risk of falls, which may be particularly relevant for individuals with hemophilia because fall-related trauma can lead to bleeding episodes and further joint deterioration. Although previous studies have investigated the relationship between joint health, pain, and functional limitations, the combined contribution of joint health, pain severity, dynamic balance performance, and fall history to QoL in adults with hemophilia has not been sufficiently clarified.

This prospective cross-sectional study aims to evaluate QoL in adults with hemophilia and to investigate the associations of joint health, pain severity, dynamic balance performance, and fall history with QoL outcomes. The study includes 36 adults diagnosed with severe hemophilia A who are followed at the Adult Hematology Unit of Van Yuzuncu Yil University. Participants aged 18 years and older who met the inclusion criteria were recruited consecutively. Individuals using walking aids, having neurological or psychiatric disorders, chronic inflammatory diseases, recent lower extremity surgery, or regular medication use that could affect balance were excluded.

Joint health is assessed using the Hemophilia Joint Health Score (HJHS), a clinician-administered tool evaluating joint impairment in the knees and ankles. Dynamic balance is assessed using a computerized stabilometric platform (Pro-kin Tecnobody Stabilometric Analysis System) with the Limits of Stability (LoS) test, which evaluates the ability to voluntarily control the center of pressure within the base of support. Pain intensity is measured using the Numeric Pain Rating Scale (NPRS), an 11-point scale ranging from 0 to 10. Fall history is determined based on the self-reported number of falls within the previous 12 months. QoL is assessed using the Turkish version of the Haemophilia-Specific Quality of Life Questionnaire for adults (Haem-A-QoL), a validated patient-reported outcome measure evaluating multiple domains of physical, emotional, and social well-being. Higher scores indicate poorer QoL.

The findings of this study are expected to improve the understanding of factors associated with QoL in adults with hemophilia and may help identify potentially modifiable clinical targets for rehabilitation interventions.