To date, clinical research has focused on postmenopausal osteoporosis, while the aetiology and management of osteoporosis in young adults and chronic disease remain poorly understood. Individuals with chronic neurological conditions, premature ovarian insufficiency, transfusion-dependent haemoglobinopathies, diabetes mellitus, renal disease, malignancy and young hip fractures are particularly underserved by current literature. This lecture will explore recent developments in the management of the bone disease in several of these groups.
Premature ovarian insufficiency (POI), whereby menopause occurs before the age of 40, is a life-changing diagnosis with profound physical and psychological consequences. It affects approximately 1-2% of women. Osteoporosis is a well-established complication of POI, with a prevalence of 8-14%; bone loss of up to 26% at the lumbar spine compared with age-matched control populations has been reported. Small studies show that HRT can maintain and restore bone mineral density (BMD) in POI, but the optimal dose and type of oestrogen therapy is unknown. Our current work examines fracture prediction in POI as well as optimising management from a bone, muscle and cardio-metabolic perspective.
Improvements in transfusion medicine have significantly improved life expectancy for patients with thalassemia major. However, osteoporosis and fracture are one of the main causes of morbidity. Multiple factors are implicated in bone disease including marrow expansion, iron toxicity, endocrinopathies and more recently renal tubular dysfunction. Our discovery of accelerated bone loss, renal calculi and deferasirox-associated hypercalciuria in haemoglobinopathies provides a new pathogenic mechanism underlying bone loss in this cohort. Current work explores methods to minimise and manage hypercalciuria as well as fracture prediction in this cohort.