Paget’s disease of bone: when and why to refer to specialist care

PATHOGENESIS AND EPIDEMIOLOGY

PDB is caused by increased osteoclast activity that is coupled with increased, but disorganised, bone formation, causing the affected bones to become deformed and more susceptible to fracture. Paget’s disease is rare below the age of 50 but becomes progressively more common thereafter and males are affected more often than females (1.4:1).² Paget’s disease has a strong genetic component and particularly targets people of British descent.² In some families, it is inherited as an autosomal dominant trait, most commonly because of mutations in the SQSTM1 gene whereas, in others, there is familial clustering with no clear pattern of inheritance.³ Emerging evidence indicates that susceptibility to PDB is accounted for, in part, by inheritance of variants in genes that cause upregulation of osteoclast …