OSTEOGENESIS IMPERFECTA: ADVANCES IN UNDERSTANDING AND MANAGEMENT OF LOBSTEIN'S DISEASE

Abstract

Osteogenesis imperfecta (OI) is a rare genetic disorder characterized by extreme bone fragility and skeletal deformities, which can lead to multiple fractures and other associated complications. The primary causes of the condition are mutations in the COL1A1 and COL1A2 genes, which affect the synthesis of type I collagen, essential for bone structure and connective tissue. Clinical types of OI vary in severity, ranging from milder forms with fewer fractures to severe forms with significant deformities and mobility issues. Diagnosis typically involves a combination of clinical assessment, imaging studies, and genetic testing. Treatment is multidisciplinary, including orthopedic care, pharmacological interventions, and rehabilitation strategies to improve patient quality of life. Recent research advances have contributed to a better understanding of the disease mechanisms and the development of new therapeutic approaches, including pharmacological therapies and potential genetic interventions. Continuous integration of new scientific discoveries and clinical practices is crucial for optimizing management and improving outcomes for individuals with OI.