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Clinical manifestations and diagnosis of Paget disease of bone

INTRODUCTION

Paget disease of bone, also known as osteitis deformans, is a focal disorder of bone metabolism that is characterized by an accelerated rate of bone remodeling, resulting in overgrowth of bone at selected sites and impaired integrity of affected bone.

Many patients with Paget disease of bone are asymptomatic. The diagnosis in such patients is usually made incidentally by a routine chemistry screen showing an elevated serum concentration of alkaline phosphatase of bone origin or by a plain radiograph obtained for some other reason.

Among symptomatic patients with Paget disease, the main clinical manifestations include pain and skeletal deformities that are usually due to overgrowth of affected bone.

The etiology, histology, clinical manifestations, and diagnosis of Paget disease of bone will be reviewed here. Treatment of this disorder is discussed separately. (See "Treatment of Paget disease of bone".)

PREVALENCE

The prevalence of Paget disease is difficult to estimate because most patients are asymptomatic. The information that is available is derived from autopsy studies and from plain radiographs obtained during hospital admissions of unselected patients. These studies found Paget disease in 3.0 to 3.7 percent of patients over the age of 40 years [1,2]. The prevalence appears to increase with age, and men and women are almost equally affected [2].
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