Paget’s disease of bone (PDB) is a 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 pathologic fracture.
Neurologic 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 isolated elevated serum alkaline phosphatase raising suspicion for disease. Plain radiographs are diagnostic; in less clear cases, a computed tomography scan is indicated. Bone biopsy is the ultimate confirmatory test, but it is rarely necessary.
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 control.
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
Key diagnostic factors
- family history of PDB
Other diagnostic factors
- femoral, pelvis, and/or skull involvement
- long-bone or back pain
- pathologic fracture
- bony deformities (e.g., frontal bossing, prognathism, bone bowing)
- increased local temperature
- hearing loss
- facial pain
- loosening teeth or disturbance in chewing
- isolated raised alkaline phosphatase
- family history of PDB
- age >50 years
- male sex (45- to 74-years age group)
1st investigations to order
- plain x-ray
- bone scan
- total serum alkaline phosphatase
- bone-specific alkaline phosphatase
- serum calcium
- serum procollagen 1 N-terminal peptide (P1NP)
- serum C-terminal propeptide of type 1 collagen (CTX)
- liver function tests
- serum 25-hydroxyvitamin D
Investigations to consider
- CT scan or MRI
- bone biopsy
asymptomatic patients, incidental diagnosis
- Fibrous dysplasia
- Diagnosis and management of Paget's disease of bone in adults
- Paget’s disease of bone
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