Paget's disease of bone

Last reviewed: 1 Nov 2022

Last updated: 01 Sep 2022

Paget’s disease of bone (PDB) is a chronic localised bone remodelling disorder characterised by increased bone resorption, bone formation, and remodelling, which may lead to major long-bone and skull deformities.

Majority of patients are asymptomatic. Symptomatic patients typically experience pain localised 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 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 physiotherapy, orthoses, and walking and hearing aids. Analgesics are indicated for pain control.

Definition

A chronic bone disorder that is characterised by focal areas of increased bone remodelling, resulting in overgrowth of poorly organised bone. This unbalanced process may lead to osseous deformities, altered joint biomechanics, nerve compressions, and pathological fractures.

History and exam

Key diagnostic factors

family history of PDB
asymptomatic

More key diagnostic factors

Other diagnostic factors

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
isolated raised alkaline phosphatase

Other diagnostic factors

Risk factors

family history of PDB
age >50 years
male sex (45- to 74-years age group)

More risk factors

Diagnostic investigations

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

More 1st investigations to order

Investigations to consider

CT scan or MRI
bone biopsy

More investigations to consider

Treatment algorithm

ONGOING

asymptomatic patients, incidental diagnosis

symptomatic patients

Contributors

Authors

Roberto Civitelli, MD

Sydney M. & Stella H. Schoenberg Professor of Medicine

Professor of Orthopaedic Surgery and Cell Biology and Physiology

Chief, Division of Bone and Mineral Diseases

Musculoskeletal Research Center

Washington University School of Medicine

St. Louis

Disclosures

RC is Editor-in-Chief of the Journal of Bone and Mineral Research (position ending 31/12/2022).

Mahshid Mohseni, MD, MSci

Assistant Professor

Director, Clinical Research Unit

Co-Director, Clinical Operations

Division of Bone and Mineral Diseases

Department of Medicine

Washington University School of Medicine

St. Louis

Disclosures

MM declares that he has no competing interests.

Acknowledgements

Dr Roberto Civitelli and Dr Mahshid Mohseni would like to gratefully acknowledge Dr Julia F. Charles, Dr Camilo Restrepo, and Dr Javad Parvizi, previous contributors to this topic.

Disclosures

JFC has received royalties from Up To Date, Waltham, MA, for authorship on articles relating to PDB; received grant funding from the National Institues of Health, the Rheumatology Research Foundation, and Brigham and Women's Hospital for research into regulation of osteoclast function, but not specifically relating to PDB; and had a manuscript published from a collaboration with Dr Jae Shim describing a pagetic phenotype in mice with osteoclast-specific loss of Chmp5. CR and JP are authors of a reference cited in this topic.

Peer reviewers

Frederick Singer, MD

Director

Endocrine/Bone Disease Program

John Wayne Cancer Institute

Santa Monica

Disclosures

FS declares that he has no competing interests.

Joseph Lane, MD

Orthopaedic Surgeon

Hospital for Special Surgery

New York

Disclosures

JL declares that he has no competing interests.

Differentials
- Osteomalacia
- Fibrous dysplasia
More Differentials
Guidelines
- Diagnosis and management of Paget's disease of bone in adults
- Paget’s disease of bone
More Guidelines
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Paget's disease of bone

Summary

Definition

History and exam

Key diagnostic factors

Other diagnostic factors

Risk factors

Diagnostic investigations

1st investigations to order

Investigations to consider

Treatment algorithm

asymptomatic patients, incidental diagnosis

symptomatic patients

Contributors

Authors

Roberto Civitelli, MD

Disclosures

Mahshid Mohseni, MD, MSci

Disclosures

Acknowledgements

Disclosures

Peer reviewers

Frederick Singer, MD

Disclosures

Joseph Lane, MD

Disclosures

Differentials

Guidelines

Log in or subscribe to access all of BMJ Best Practice

Log in or subscribe to access all of BMJ Best Practice

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