Paget's disease of bone

Last reviewed: 1 Nov 2022
Last updated: 01 Sep 2022

Summary

Definition

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

MO

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

MO

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

CA

Disclosures

FS declares that he has no competing interests.

Joseph Lane, MD

Orthopaedic Surgeon

Hospital for Special Surgery

New York

NY

Disclosures

JL declares that he has no competing interests.

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