Metabolic bone disease

Metabolic bone disease results from a complex variety of causes but can generally be divided into conditions that mainly cause osteoporosis and those that result principally in osteomalacia. Some conditions show a mixture of these two states. Investigation of metabolic bone disease should follow a logical progression and a diagnosis can usually be made if this sequence is adhered to. Many of the syndromes resulting in metabolic bone disease are genetic in origin, especially in children, though the commonest form of osteomalacic rickets results from environmental vitamin D deficiency. DNA analysis is often available to confirm the diagnosis. Treatment should be aimed primarily at removing the cause of the metabolic bone disease if possible, but it may be possible only to counteract the effects of the disease rather than achieving a ‘cure’. A multidisciplinary approach to treatment may be required, particularly in the more disabling conditions.