Analyses of Osteogenesis Imperfecta in South Korea Using the Nationwide Health Insurance Service Claim Data: A...

Osteogenesis imperfecta (OI) is the most common inherited form of bone fragility and includes a heterogeneous group of genetic disorders that most commonly result from defects associated with type I collagen. Although genetic analyses have been developed, nationwide research on the incidence and associated fractures in OI is lacking. This study aimed to investigate the patterns of OI prevalence, incidence, fracture rate, etc. in South Korea using National Health Insurance Service (NHIS) claims data. We found 1596 patients newly diagnosed with OI between March 2002 and February 2020. We evaluated the incidence, prevalence, and history of fractures, fracture site, prescription of anti-osteoporosis drugs, etc. To compare medical costs, fracture rates, and scoliosis rates, we created a control group comprising patients without OI using 1:1 propensity score matching. The prevalence of OI increased slightly each year, with an annual incidence of 20.20 per 100,000 live births. Mean fracture frequency in OI patients was 17 (2-32) times per patient and the most frequent fracture site was the lower leg. A total of 21.4% patients were prescribed anti-osteoporosis drugs, and the most popular drug was pamidronate. After 1:1 propensity score matching, in terms of scoliosis, OI patients had a 3.91 times higher prevalence of scoliosis than in healthy patients which was statistically significant. The sum of medical care expenses for patients with OI was 3.5 times higher than that for patients without OI. We identified nationwide trends in OI occurrence, fractures, and medication use. This study also highlighted the real-world data of scoliosis and medical costs compared to the control group.