Health-Related Quality of Life and Fatigue in Patients with Osteogenesis Imperfecta

Objective: This study aimed to assess health-related quality of life (HRQoL) and fatigue in patients with osteogenesis imperfecta (OI) and to compare these outcomes with those of healthy controls. In addition, the associations between fatigue and the physical and mental components of HRQoL, as well as related clinical factors, were examined. Method: Between June 2024 and June 2025, 27 adults with OI were enrolled and compared with 27 healthy controls. Fatigue was assessed with the FSS and HRQoL with the SF-36, including PCS and MCS scores. We evaluated factors associated with the PCS and MCS and examined the associations between the PCS/MCS and fatigue. Results: PCS scores were significantly lower in patients with OI types III and IV compared with controls, whereas no difference was observed between type I and controls. No significant differences were found in MCS scores or mental health domains among the groups. Fatigue levels did not differ significantly among the groups. Height was positively correlated with the PCS, while the number of fractures showed a moderate negative correlation. Lower PCS scores were observed in patients with lower extremity deformities and a history of orthopedic surgery. Alendronate use and longer treatment duration showed associations with higher PCS scores. In addition, a significant negative correlation was found between the MCS and fatigue severity. Conclusions: Adults with OI showed impaired physical functioning compared with controls, with relatively preserved mental functioning and similar fatigue levels. Physical functioning was associated with height, fracture burden, orthopedic surgery, and alendronate use, while fatigue was associated with mental functioning, underscoring the need for patient-centered care addressing both skeletal and psychosocial outcomes.