Chronic localized bone remodeling disorder characterized by increased bone resorption, bone formation, and remodeling, which may lead to major long bone and skull deformities.
Majority of patients are asymptomatic. Symptomatic patients typically experience pain localized to the bone or joint, either from the pagetic lesion, secondary osteoarthritis, deformity, or pathological fracture.
Neurological symptoms due to bone overgrowth with consequent nerve impingement may include hearing loss, chronic facial pain, hydrocephalus, peripheral nerve entrapment, and spinal stenosis. Very rarely, high-output cardiac failure caused by high blood flow to metabolically active bone sites may occur.
Diagnosis is incidental in the majority of patients, with an elevated serum alkaline phosphatase raising suspicion for disease. Radiographs have classical appearance. Bone biopsy is the only confirmatory diagnostic test, but it is rarely indicated.
If treatment is indicated, bisphosphonates are the first-line therapy to retard excessive osteoclastic activity. Adjunctive therapy includes physical therapy, orthoses, and walking and hearing aids. Analgesics are indicated for pain and inflammatory symptoms.
A chronic bone disorder that is characterized by focal areas of increased bone remodeling, resulting in overgrowth of poorly organized bone. This unbalanced process may lead to osseous deformities, altered joint biomechanics, nerve compressions, and pathologic fractures.
History and exam
- femoral, pelvis, and/or skull involvement
- long-bone or back pain
- pathological fracture
- bony deformities (e.g., frontal bossing, prognathism, bone bowing)
- increased local temperature
- hearing loss
- facial pain
- loosening teeth or disturbance in chewing
- deterioration of visual acuity
Julia F. Charles, MD, PhD
Assistant Professor of Medicine
Brigham and Women's Hospital
Department of Orthopaedics and Medicine/Rheumatology
JFC has received royalties from Up To Date, Waltham, MA, for authorship on articles relating to Paget disease of bone (PDB). JFC has also received grant funding from the NIH, Rheumatology Research Foundation and Brigham and Women's Hospital for research into regulation of osteoclast function, but not specifically relating to PDB. JFC has had a manuscript published from a collaboration with Dr. Jae Shim describing a Pagetic phenotype in mice with osteoclast-specific loss of Chmp5.
Dr Julia F. Charles would like to gratefully acknowledge Dr Camilo Restrepo and Dr Javad Parvizi, previous contributors to this topic. CR and JP are authors of references cited in this topic.
Frederick Singer, MD
Endocrine/Bone Disease Program
John Wayne Cancer Institute
FS declares that he has no competing interests.
Joseph Lane, MD
Hospital for Special Surgery
JL declares that he has no competing interests.
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