To date, clinical research has focused on postmenopausal osteoporosis, while the aetiology and management of osteoporosis in young adults remain poorly understood. Individuals with transfusion-dependent haemoglobinopathies, chronic neurological conditions, renal disease, premature menopause 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.
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 (1). Our discovery of accelerated bone loss (2), renal calculi (3) and deferasirox-associated hypercalciuria (4) in haemoglobinopathies provides a new pathogenic mechanism underlying bone loss in this cohort. Current work explores methods to minimise and manage hypercalciuria, examining bone and renal outcomes.
Cerebral palsy (CP) is the most common motor disorder in children, with increased fracture risk through diminished ambulation, nutritional deficiencies and anticonvulsant use. Improvements in medical care have seen increases in life-expectancy, but studies examining bone health beyond childhood are limited. Our recent work in young adults suggests that fragility fractures are common with predominant ankle, vertebral and rib fractures (5). In addition, hypogonadism was present in 20% of young adults with CP, prompting further work to optimise management in this group.