Elevated periostin level in serum of adults with Osteogenesis Imperfecta is associated with disease severity

Objective In Osteogenesis Imperfecta (OI), phenotypic variability and the limited predictive value of genotype-phenotype correlations underscore the need for reliable predictive marker of disease severity. Periostin is a matricellular protein involved in bone formation, remodeling, and response to mechanical stress. It interacts with type I collagen and modulates osteoblast activity via Wnt/β-catenin and TGF-β signaling. Given its established role in other bone disorders, we hypothesized that circulating periostin may be a relevant biomarker in OI. Methods We performed a matched case–control analysis of serum periostin levels in 61 adult patients with OI and 61 age-, sex-, and BMI-matched controls. Periostin was measured by ELISA. Associations between periostin levels and clinical variables were assessed using t-tests, Pearson correlations, and multivariable linear regression models. Results Mean periostin levels were significantly higher in OI patients than in controls (796.5 ± 209 vs. 713.6 ± 167 pmol/L, p = 0.017). Among OI patients, higher periostin level was associated with female sex (p = 0.01), presence of scoliosis (p = 0.01), and Sillence type III (p = 0.05). Positive correlations were observed between periostin and markers of axial skeletal severity as height–wingspan discrepancy (r = 0.30, p = 0.023). In multivariable analysis, the number of severe fractures (defined as femur/pelvis/humerus/vertebral fractures) was independently associated with higher periostin level (β = 25.6, p = 0.041), while smoking was negatively associated (β = –269.8, p = 0.012). Conclusion This study is the first to report the elevated circulating level of periostin in adults with OI and its association with disease severity.