Fractures in osteogenesis imperfecta: a review of the frequency, location, and impact on patient quality of life

Abstract Background Osteogenesis imperfecta (OI) is a heterogeneous group of rare genetic diseases characterized by low bone mass and bone fragility that result in skeletal deformities and recurrent fractures throughout life. The aim of this review is to provide a comprehensive, contemporary summary of available information on the frequency and location of fractures, as well as their impact on individuals with OI. We also include physician perspectives on assessment of fractures, quality of life (QoL) optimization, treatment, and clinical advice to provide insight into the unique features of this rare disease. Results As expected, all studies included in this review reported multiple fractures per patient with OI, with fracture rates varying between OI types. Studies reported a range of fractures per patient, with patients typically experiencing their first fracture at less than 2 years of age. Evidence suggests a greater fracture rate in children than adults, and the fracture rate in all patients with OI was up to eight times greater than the general population. Patients with OI reported fractures at all skeletal sites, with the femur being the most common site. Many studies reported that fractures, and the resulting pain, greatly impacted patient and caregiver/family QoL, daily activities, school, work, and mental health. Fractures in OI also placed a large burden on health care systems, especially with hospital visits for fracture diagnosis and management. Conclusions This article highlights the OI-specific fracture phenotype and the impact of major, frequent, and recurrent fractures on QoL in patients with OI. We underscore that sharing knowledge through OI community–based channels is vital for patients with OI and their families, with the goal of helping patients manage their health care journeys.