Key Points
- Paget’s disease of bone (osteitis deformans) is a chronic benign disorder of bone that generally affects one or several bones.
- The abnormal bone structure may be associated with enlarged affected bones and skeletal deformity, particularly in weight-bearing bones.
- 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.
- The clinical features and complications of Paget’s disease are closely related, but presentation varies from patient to patient.
- The most common neurological complication of Paget’s disease is hearing loss associated with disease involving the skull.
- 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.
- 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.
- Rates in the United States are estimated to be approximately 2%–3% among individuals older than 55 years.
Diagnosis
Imaging
- In patients with suspected Paget’s disease, the Endocrine Society (ES) recommends obtaining plain radiographs of the suspicious regions of the skeleton. (1|⊕⊕⊕⊕)
- 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|⊕⊕⊕o)
Biochemistry
- 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|⊕⊕⊕⊕)
Table 1. Symptoms and Complications of Paget’s Disease of Bone
System and Complication
- Musculoskeletal
- Bone pain
- Bone deformity
- Osteoarthritis of adjacent joints
- Acetabular protrusion
- Fractures
- Spinal stenosis
- Neurological
- Hearing loss
- Tinnitus
- Cranial nerve deficits (rare)
- Basilar impression
- Increased cerebrospinal fluid pressure
- Spinal stenosis
- Paraplegia, quadriplegia, vascular steal syndrome
- Cardiovascular
- Congestive heart failure
- Increased cardiac output
- Aortic stenosis
- Generalized atherosclerosis
- Endocardial calcification
- Metabolic
- Immobilization
- Hypercalciuria
- Hypercalcemia
- Hyperuricemia
- Nephrolithiasis
- Neoplasia
- Sarcoma (osteosarcoma, chondrosarcoma, and fibrosarcoma)
- Giant cell tumor
