Iron Status in Patients with Osteogenesis Imperfecta

Abstract

steogenesis imperfecta (OI) is a genetic disorder of connective tissue with a prevalence of one per (15-20 000) births. It primarily affects bone with a wide spectrum of clinical expression that varies from death in the perinatal period to normal life ‎expectancy. It is characterized by frequent fractures. Anemia is a relevant problem frequently occurring worldwide. Despite the relative high prevalence, costs, and impact on patient's quality of life, it is rarely considered and adequately treated. Although data is scarce, it is tempting to hypothesize that in OI functional iron deficiency may be secondary to the inflammation resulting from concomitant pathologies, the nature of the disease and the continuous inflammatory insults like frequent fractures.