Osteoarthritis in Osteogenesis Imperfecta: A Nationwide Register-based Cohort Study.

Abstract Background Osteogenesis Imperfecta (OI) is a genetic disease characterized by skeletal fragility. Collagen type 1 is found in many tissues and collagen abnormalities may result in organ specific symptomatology. Musculoskeletal pain is a known issue for patients with OI, osteoarthritis (OA) can be a likely cause. Only few studies have investigated the relationship between OI and OA but demonstrated a greater propensity in OI patients to develop rapidly progressing OA. Therefore, we wanted to investigate if OA is more frequent in patients with OI compared to the general population. Objective To evaluate the risk of osteoarthritis in patients with OI. Design A Danish nationwide, population-based and register-based longitudinal open cohort study. Participants From 1977 to 2019, all patients registered with an OI diagnosis and a reference population matched on age and sex 5:1. Measurements Sub-hazard ratios for any, hip, and knee osteoarthritis comparing the OI cohort to the reference population. Results We identified 907 patients with OI (493 women) and included 4,535 patients in the reference population (2,465 women). The Sub Hazard Ratio was 2.20 [95% CI 1.73-2.79] for any osteoarthritis with 11.4% of the OI population and 5.4% of the reference population being registered. We found lower incidences of upper extremity joint OA compared to lower joint OA, but upper extremity joint OA was significantly more frequent in the OI population 2.1% vs 0.6%, SHR 3.19 [95% CI 1.78-5.70]). Conclusion Patients with OI have a higher risk of OA than the reference population. Miniabstract Osteogenesis Imperfecta (OI) is a hereditary connective tissue disorder with skeletal fragility and extraskeletal manifestations. Osteoarthritis is a frequent joint disease and the incidence increases with age. In a population-register-based study, the risk of osteoarthritis was higher in patients with OI at an earlier age compared to a reference population.