Key Points
Î Paget's disease of bone (osteitis deformans) is a chronic benign disorder of
bone that generally affects one or several bones.
Î The abnormal bone structure may be associated with enlarged affected
bones and skeletal deformity, particularly in weight-bearing bones.
Î Many patients with Paget's disease of bone are asymptomatic. Bone pain,
mild to moderate in intensity and described as deep and aching, is a feature
of Paget's disease of bone, usually developing late rather than early in the
disease process, and it is only present in a minority of patients.
Î The clinical features and complications of Paget's disease are closely
related, but presentation varies from patient to patient.
Î The most common neurological complication of Paget's disease is hearing
loss associated with disease involving the skull.
Î Studies of patients with Paget's disease indicate there is a family history
of the disorder, an autosomal dominant transmission pattern, in 5%–40%,
with most researchers reporting a 10%–20% incidence.
Î Paget's disease affects both men and women, with an apparent small male
predominance. It rarely manifests itself clinically before age 40, and the
frequency of the condition increases with advancing age.
Î Rates in the United States are estimated to be approximately 2%–3% among
individuals older than 55 years.
Diagnosis
Imaging
Î In patients with suspected Paget's disease, the Endocrine Society (ES)
recommends obtaining plain radiographs of the suspicious regions of the
skeleton. (1|⊕⊕⊕⊕)
Î In patients diagnosed with Paget's disease, the ES suggests a radionuclide
bone scan to determine the extent of the disease and identify possible
asymptomatic sites. (2|⊕⊕⊕
)
Biochemistry
Î The ES recommends that after radiological diagnosis of Paget's disease, the
initial biochemical evaluation of a patient should be done using serum total
alkaline phosphatase (ALP) or with the use of a more specific marker of
bone formation when appropriate. (1|⊕⊕⊕⊕)
