Is Paget’s disease of bone disappearing?

Excerpt

Paget’s disease of bone is a focal disorder characterized by the rapid remodeling of affected bones. It has distinctive radiographic appearances but despite there being highly effective treatment, the etiology remains unknown. Examination of exhumed skeletons has suggested that the disease originated in Britain around 1000 AD. Its prevalence increases with age, and there is a slight but definite male preponderance. The prevalence of Paget’s disease is usually estimated from its appearance on abdominal radiographs as ∼85% of patients have pelvic, sacral, lumbar spine or upper femoral involvement. Radiographic surveys undertaken in the 1970s demonstrated that the prevalence of Paget’s disease varied significantly around the world, with countries such as New Zealand that were colonized mainly by people of British descent, being amongst the highest. The most plausible explanation is that people of north-western European origin have an inherited predisposition to develop Paget’s disease, and thus the disease has an important genetic component to its etiology that the colonists brought with them. Indeed, disease-associated mutations in one gene (SQSTM1) have recently been identified in many families with Paget’s disease from different parts of the world [1, 2]. However, other observations indicate that the character of Paget’s disease has changed in recent years, suggesting that there are also important environmental determinants of the disease. …