#AACE2021: Top 20-Rare Bone Diseases You Should Never Miss

Video Transcription

Video Summary

Dr. Michael Collins, a Senior Investigator-in-Chief of the Skeletal Disorders and Mineral Homeostasis Section at the National Institute of Dental and Craniofacial Research, gave a presentation on rare bone diseases that may be mistaken for osteoporosis. He discussed several disorders, their causes, and potential treatments. One disorder mentioned was tumor-induced osteomalacia, which is caused by small mesenchymal tumors that secrete FGF23 hormone. Other disorders discussed included calcium and vitamin D-related osteomalacias, hypophosphatasia, osteogenesis imperfecta, Paget's disease, fibrous dysplasia, and skeletal dysplasias. Dr. Collins emphasized the importance of thorough history, examination, and laboratory testing in diagnosing these rare diseases. He recommended 24-hour urine collection for calcium testing in patients with bone fragility and fractures, and highlighted the importance of a fasting morning phosphate level for accurate assessment of hypophosphatemia. Dr. Collins also discussed the use of bone turnover markers such as CTX for assessing bone health. He mentioned the potential role of genetic testing in diagnosing rare bone diseases, and suggested consulting with skeletal dysplasia geneticists for difficult cases. Overall, Dr. Collins provided an overview of various rare bone diseases, their key features, and the importance of accurate diagnosis in guiding treatment options.

Asset Subtitle

Michael T. Collins, MD | Steven T. Harris, MD, FACP, FASBMR

Keywords

rare bone diseases

osteoporosis

tumor-induced osteomalacia

FGF23 hormone

hypophosphatasia

osteogenesis imperfecta

Paget's disease

fibrous dysplasia

skeletal dysplasias