Paget's disease of bone

Abstract

Paget's disease is an osteoclastic-mediated disorder of bone that results in abnormal bone resorption associated with inadequate remodeling that leads to mechanically weakened bone. Demonstrating variable geographic prevalence, it is becoming less frequent and age of onset is lengthening in areas of once high prevalence prior to the institution of effective medical therapies, suggesting its etiology involves both environmental as well as genetic factors. Insights into its pathophysiology are helping to clarify other inherited osteolytic disorders of bone by providing additional insights into related cellular processes.

Keywords: IBMPFD (inclusion body myopathy and Paget disease of bone and/or frontotemporal dementia); Paget’s disease of bone; RANK (receptor activator of NF-κB); RANKL bisphosphonates; SQSTM1 gene; alkaline phosphatase; expansile skeletal hyperplasia); familial expansive osteolysis (early onset familial Paget disease; familial or idiopathic hyperphosphatasia (juvenile Paget disease); idiopathic hyperphosphatasia or IHH); juvenile Paget’s disease of bone (familial hyperphosphatasemia; osteitis deformans; osteoblastic phase; osteodystrophia deformans; osteolytic phase; osteosarcoma; p62 protein or sequestosome-1; pamidronate; risedronate; sclerotic phase; sensorineural hearing loss; vascular steal; zoledronate.