‘My message to all clinicians is that delayed diagnosis can be devastating’: Endocrinologist on rare bone diseases
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A leading Australian expert on rare metabolic bone diseases is calling for better recognition of this heterogeneous group of disorders across all medical specialties.
Professor Rory Clifton-Bligh, a senior endocrinologist at Sydney’s Royal North Shore Hospital, says the key to better patient outcomes is earlier diagnosis of rare bone diseases, accounting for 5% of all congenital disabilities.
Some of the more “common” rare bone conditions he treats are osteogenesis imperfecta (OI), also known as brittle bone disease; X-linked hypophosphataemia (XLH), a genetic form of hypophosphataemic rickets and osteomalacia; and hypophosphatasia which can also lead to rickets and osteomalacia.
