Pain and physical function affecting quality of life in patients with osteogenesis imperfecta, X-linked hypophosphatemia, and hypermobile Ehlers-Danlos syndrome.

Hereditary musculoskeletal disorders, including OI, X-linked hypophosphatemia (XLH), and hypermobile Ehlers-Danlos syndrome (hEDS), are associated with significantly diminished quality of life (QoL) compared to the general population. Although the recognition of patient-reported outcomes (PROs) in clinical practice is growing, the specific factors that most profoundly influence QoL in these disorders, as well as the differences among them, remain poorly understood. The objective of this cross-sectional study was to examine the QoL in 142 adult patients with rare genetic disorders, focusing on pain intensity and pain-related limitations. Medical data from patient records were collected and analyzed statistically. QoL was assessed using generic questionnaires (BPI-SF, EQ-5D-5L, SF-36v2), and pain intensity along with related limitations were evaluated. The data were analyzed using SPSS software, with regression analyses conducted to identify factors associated with QoL. All patient groups reported pain, which was associated with a significantly reduced QoL. Among these groups, those with hEDS experienced the most severe impairment and reported the highest levels of pain. Meanwhile, patients with OI type III faced the most substantial limitations in physical functioning, whereas no significant differences could be found between OI type I and XLH. To improve overall QoL for individuals with OI, XLH, and hEDS, it is essential to implement multimodal pain management strategies, addressing not only physical pain but also psychological and social dimensions. Additionally, ongoing development and integration of PROs into clinical practice will enhance the understanding of how these conditions affect patients, guiding the creation of more effective, patient-centered interventions.