ABSTRACT
Paget’s disease of bone (PDB) is a common metabolic bone disease in people of European descent. The osteoclasts in PDB are larger than normal and some contain nuclear inclusion bodies. Linkage analysis in families coupled with genome wide association studies have identified several genes and loci that predispose to PDB. Clinical signs of PDB include bone deformity and expansion, increased warmth over affected bones, and pathological fracture. The diagnosis of PDB can usually be made by X-ray, which shows the typical features of bone expansion with an abnormal trabecular pattern, cortical thickening and alternating areas of radiolucency and osteosclerosis. The increased bone turnover in PDB can be reduced by therapy with osteoclast inhibitors. The main indication for treatment with bisphosphonates in PDB is bone pain localized to an affected site which is thought to be due to increased metabolic activity. Bone pain in PDB can also be treated with analgesics, non-steroidal anti-inflammatory drugs and anti-neuropathic agents.
