Increased risk of osteomyelitis and septic arthritis in osteogenesis imperfecta

We investigated the prevalence of osteomyelitis and septic arthritis in individuals with osteogenesis imperfecta (OI) as compared to the general population. We performed a retrospective cohort study utilizing the TriNetX Analytics platform, a federated, aggregated electronic health record (EHR) research network containing national, deidentified EHR data. We queried patients with OI, based on encounter diagnoses. Patients in this group with any occurrence of osteomyelitis or septic arthritis were recorded. A control cohort was established to compare the prevalence in patients without OI. Of 8444 individuals with OI, 433 (5.13%) had encounter diagnoses for osteomyelitis and 61 (0.72%) had encounter diagnoses for septic arthritis. In comparison, of 79 176 436 patients without OI, 352 009 (0.44%) had encounter diagnoses for osteomyelitis, while 106 647 (0.13%) had encounter diagnoses for septic arthritis. The relative risk for osteomyelitis in OI patients was 11.53 (95% CI: 10.52-12.64), while the relative risk for septic arthritis was 5.36 (95% CI: 4.18-6.89). The relative risk for osteomyelitis in pediatric OI patients was 30.55 (95% CI: 24.35-38.28). To our knowledge, this is the first study investigating musculoskeletal infections in patients with OI, as well as the first to report the overall prevalence in the general population. Clinicians may benefit from a high index of suspicion for musculoskeletal infections in OI patients with corresponding symptoms. Further study is warranted to investigate if modifications to conventional diagnostic pathways and criteria are valuable in this population. Level of evidence: Retrospective Cohort Study - Level II.