Paget's disease of bone: an update.

PURPOSE OF REVIEW: The review summarizes the recent findings relevant to the clinical management, genetic predisposition, and molecular mechanisms implicated in Paget's disease of bone (PDB).

RECENT FINDINGS: PDB is characterized by focal regions of increased bone remodeling and abnormal bone architecture. PDB is treated effectively with amino-bisphosphonates, which can produce very prolonged disease remission. The disease has a strong genetic component and a large number of studies focus on the cellular mechanisms affected by mutations in the SQSTM1 (sequestosome 1) gene which are associated with PDB. Identifying other genes associated with PDB is an additional active research focus.

SUMMARY: In recent years, there has been a great progress in the understanding of the epidemiology, genetics and molecular biology of PDB. However, an integrative view of the disease cause is still missing and is likely to be attained only with further discoveries of genetic factors, environmental factors, and the interactions between them. Investigations of the cellular mechanisms that are disrupted in PDB contribute greatly to the understanding of normal bone remodeling.