Paget disease of bone (PDB) is a striking disorder of aging bone, first described by Sir James Paget in 1876 in his paper entitled “On a Form of Chronic Inflammation of Bones (Osteitis Deformans) (Paget, 1876).” In that sentinel paper, Paget catalogued the progressive deformity of bone that occurred over 26 years in one man, detailing the enlargement of the head, the settling of the skull over the spine, the evolving rigidity of the spine, and bowing of the lower limbs. “The shape and habitual posture of the patient were thus made strange and peculiar (Paget, 1876).” Paget attributed these skeletal changes to chronic inflammation of the affected bones, and called the disease osteitis deformans, writing “a better name may be given when more is known of it (Paget, 1876).”
ESSENTIALS OF DIAGNOSIS
Although Paget disease of bone (PDB) is often asymptomatic, pain, early arthritis in proximal joints, and bone fractures are common complications.
Accelerated bone remodeling results in enlarged, misshapen bone.
Usually presents in persons older than 55 years of age.
Osteosarcoma develops in a small minority of patients.
PDB is a focal disorder of bone remodeling that tends to present in individuals middle-aged or older. This condition is often asymptomatic though patients may develop progressive deformity of bone as well as fractures. Treatment is effective and should be aimed at ameliorating pain arising from involved bone, as well as preventing disease progression and complications.
Both genetic and environmental determinants are believed to explain the skeletal distribution and late onset of this disease. PDB usually presents in adults over age 55 and tends to affect men more often than women. The condition does not occur in children (Galson and Roodman, 2014). The pelvis is a common site of involvement, and PDB of the pelvis has been reported to have a prevalence of 1–2% in the general population of the United States. Among individuals aged 65–74, the percentage of the population affected exceeds 2%, and there is an even higher prevalence among Caucasians (Altman et al, 2000). Geographic clusters of disease are noteworthy (Gennari et al, 2019; Michou and Orcel, 2016). In fact, the prevalence of PDB was determined to be approximately 6-8% in three towns in Lancashire, England. There is some evidence that the prevalence of this disease has decreased in most parts of the world, for reasons that are not clear (Singer, 2015).
Genetic & Environmental Triggers
PDB occurs both as a sporadic disease and an autosomal dominant disease with variable penetrance. An epidemiologic study drawing from a registry of individuals with PDB in New England demonstrated that 20% of study participants had a family history of PDB, and some studies have reported a positive family history in as many as 40% of patients (Gennari et al, 2019; Seton ...