There are approximately 206 bones in fully grown adults which provide both support and mobility and protect the body’s organs. They also help to control the calcium and mineral balance in the body. In childhood the ends of the bones are softer and made up of a tissue which is called cartilage, this is where the bones grow and during puberty this becomes solid. Each bone is composed of bone cells, cartilage (needed for growth), blood vessels and fatty tissue. Defects which are seen in bone disease can be caused by a number of factors including mineral abnormalities, such as calcium, phosphorus, magnesium and vitamin D which in turn can lead to bones which become brittle and fracture easily. Some specific conditions can also cause brittle bones, most notably Osteogenesis Imperfecta and Osteoporosis.
Features commonly seen in metabolic bone diseases include susceptibility to fractures even with minimal injury, abnormal bone growth such as bowing of the legs, bone and/or muscle pains and general weakness and lethargy.
Tests for metabolic bone disease often include blood and urine tests to measure levels of calcium, vitamin D and minerals. X-rays can show any deformities. Genetic testing is also now available. Bone density scans are available but may only be available in regional centres.