Abstract
Background: Osteogenesis imperfecta (OI) is a rare monogenic connective tissue disorder characterized by fragility of bones and recurrent fractures. In addition to the hereditary component, there are a number of factors that influence the course of the disease, the contribution of which is poorly understood, in particular the levels of micronutrients. Methods: A cross-sectional study was conducted involving 45 with OI and 45 healthy individuals. The concentrations of micronutrients (calcium, copper, inorganic phosphorus, zinc, and magnesium) and bone mineral density (BMD) were evaluated in all the participants. Results: The concentrations of micronutrients in all the groups were within the reference values. In the OI overall, magnesium and copper were elevated, and phosphorus and zinc were lower. Type I exhibited higher concentrations of magnesium and copper and the lowest phosphorus; type III was associated with lower zinc, type IV with lower calcium and higher copper, and type V with the lowest phosphorus. OI overall was associated with lower BMD values. A correlational analysis in the OI group showed that the number of fractures correlated with BMD in absolute values but not with the Z-score. Conclusions: The obtained data emphasize the importance of the levels of micronutrients in the pathogenesis of connective tissue diseases, in particular OI. As in the results of previous studies, the levels of micronutrients were within the population norm, which probably requires the development of individual criteria for the content of substances in this category of patients.