Association between fractures and recurrent falls, symptoms and health orientation: glass bones

Abstract

Osteogenesis imperfecta is a rare hereditary disease characterized by a deficiency in the production of type I collagen that interferes with connective tissue, culminating in recurrent fractures with minimal trauma due to bone fragility. In most cases, the disease results from mutations in the COL1A1 and COL1A2 genes, responsible for encoding the type I collagen chain. It is a descriptive study, with a qualitative approach, of the experience report type, with activities developed during the class practice of the subject of Semiology II, in a hospital in the city of Caratinga-MG, portraying the medical care provided to a patient with osteogenesis imperfecta. Thus, the following steps were taken: data collection during anamnesis, physical examination and consultation of medical records. It refers to a male patient, 65 years old, farmer, diagnosed with the disease, hospitalized for a fracture of the right lower limb in the portion of the diaphysis of the femur, totally displaced. In short, the present study aims to contribute to the dissemination of knowledge about osteogenesis imperfecta, given the scarcity of publications and scientific studies on this disease, exploring the clinical and symptomatological history of a patient with osteogenesis imperfecta, highlighting the necessary conducts and guidelines for a good prognosis.