Primary Osteoporosis

Primary osteoporosis in childhood encompasses a range of bone fragility conditions that typically have a genetic origin. Understanding of the pathophysiology and genetics of primary osteoporosis has increased dramatically over the past 10 years. The clinical manifestations and consequences of the disease range from mild to severe, with the degree of growth retardation and bony deformity reflecting the severity and the underlying pathology. In children, primary osteoporosis is most commonly caused by one of the forms of osteogenesis imperfecta, which comprises a group of disorders characterised by abnormalities in type I collagen synthesis or processing. Diagnosis of any primary osteoporotic condition depends on the clinical history and examination but may be supported by other investigations, including various imaging techniques, histology and genetic analyses. Good management requires a multidisciplinary approach involving paediatricians, surgeons and allied health professionals, amongst others. Bisphosphonate therapy has revolutionised the approach to management and has positively modified outcomes for many children and their families. Physiotherapy and occupational therapy are the keys to optimising independence in mobility and daily living. Surgery is required in many severe cases to straighten limbs or stabilise the spine. Bisphosphonates remain the mainstay of medical treatment, but there are a number of alternative therapeutic agents under investigation that may further improve management of primary osteoporosis in children over the coming years.