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Paget's Disease of Bone

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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|⊕⊕⊕⊕)

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