Aetiology

When the condition was described by Sir James Paget over 100 years ago, he believed that the bone changes seen in patients with this condition were the result of an inflammatory process. Hence the designation osteitis deformans.

The causative agent has yet to be established (1). Both environmental and genetic factors are thought to play a role (1).

• around one third of the patients have affected first degree relatives
  • such families frequently carry mutations in the gene Sequestosome 1 (SQSTM1)
  • patients with such mutations have more extensive disease with an early onset
• infection with canine distemper or measles virus are thought to be important as well (1)

Reference:

• (1) Bastin S et al. Paget's disease of bone--becoming a rarity? Rheumatology (Oxford). 2009;48(10):1232-5.