Last reviewed:September 2019
Last updated:January  2019

Summary

Definition

History and exam

Key diagnostic factors

  • family history of Paget's disease
  • asymptomatic

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
  • deterioration of visual acuity

Risk factors

  • family history of Paget's disease
  • age >50 years
  • male sex (45- to 74-years age group)
  • infection
  • environmental 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)
  • LFTs
  • serum 25-hydroxyvitamin D
Full details

Treatment algorithm

Contributors

Associate Physician

Assistant Professor of Medicine

Brigham and Women's Hospital

Department of Orthopaedics and Medicine/Rheumatology

Boston

MA

Disclosures

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.

Peer reviewersVIEW ALL

Director

Endocrine/Bone Disease Program

John Wayne Cancer Institute

Santa Monica

CA

Disclosures

FS declares that he has no competing interests.

Orthopaedic Surgeon

Hospital for Special Surgery

New York

NY

Disclosures

JL declares that he has no competing interests.

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