Osteogenesis imperfecta as a differential diagnosis of secondary osteoporosis

Abstract

Objective: To describe a clinical case of type IV osteogenesis imperfecta (OI), highlighting the importance of differential diagnosis with secondary osteoporosis and discussing current therapeutic approaches. Case detail: Female patient with a history of recurrent fractures since early childhood, short stature, bone deformities, grayish sclerae, and progressive bilateral hearing loss. The patient was referred to a specialized outpatient clinic for osteometabolic diseases for evaluation of bone fragility. Complementary tests revealed reduced bone mineral density in multiple skeletal sites, as demonstrated by bone densitometry. Genetic testing identified a pathogenic mutation in the COL1A1 gene, confirming the diagnosis of type IV OI. The treatment included intravenous bisphosphonates, regular physiotherapy, and corrective orthopedic surgeries, resulting in progressive improvement of functional capacity. The patient remains under multidisciplinary follow-up, focusing on fracture prevention, promotion of functional independence, and psychosocial support. Final considerations: This case highlights the importance of considering OI in the differential diagnosis of patients with recurrent low-impact fractures and emphasizes the role of continuous and multidisciplinary follow-up in clinical management. Early diagnosis allows for more effective therapeutic planning and appropriate genetic counseling.