Guidelines Summary

The following organizations have issued guidelines on the diagnosis and management of Paget disease of bone (PDB):

Endocrine Society
Paget's Association (UK)

The guidelines from the Guideline Development Group (GDG) of the Paget's Association (United Kingdom), published in 2019, have been endorsed by the European Calcified Tissues Society, the International Osteoporosis Foundation, the American Society of Bone and Mineral Research, the Bone Research Society (UK), and the British Geriatric Society.^[56]

Paget's Association

The key recommendations of the Paget's Association guidelines include the following^[56]:

Imaging : X‐rays of abdomen, skull, facial bone for initial diagnostic screening in patients with clinical or biochemical indications of PDB. Radionuclide bone scans are a second-line modality to determine the extent of metabolically active disease. MRI and CT are not recommended for the diagnosis of PDB but are recommended to assess complications.
Biomarkers: Serum total alkaline phosphatase (ALP) in combination with liver function tests is the first‐line biochemical screening test for PDB. In clinically suspicious PDB, if total ALP values are normal, second-line tests include measurement of bone-specific alkaline phosphatase (BALP), N-terminal propeptide of human procollagen type I (PINP), or urinary N-telopeptide (uNTx).
Bisphosphonate therapy: Bisphosphonates are the recommended treatment for bone pain associated with Paget disease. It may also be considered for asymptomatic patients with increased metabolic activity. There is insufficient evidence for the following indications: improvement in quality of life, prevention of fractures and bone deformity, prevention of progression of osteoarthritis and hearing loss, and reduction of blood loss prior to elective orthopedic surgery.
Treatment of neurologic symptoms: Calcitonin or bisphosphonate therapy may be considered.
Surgical treatment: Spinal surgery should be considered for treatment of spinal stenosis or cord compression. Surgery is recommended for fixation of fractures. Joint replacement surgery and osteotomy are recommended for treatment-resistant osteoarthritis.

The guidelines also pointed to the following unresolved questions in Paget disease management that require further investigation^[56]:

Treatment of asymptomatic patients
Effect of treatment on complications
Use of genetic profiling in diagnosis and treatment
Benefits of joint replacement surgery, osteotomy, and fracture fixation
Potential of less-invasive nonpharmacologic therapies

Endocrine Society Guidelines

A 2014 Endocrine Society clinical practice guideline on Paget disease includes the following recommendations^[57]:

Obtain plain radiographs of the pertinent regions of the skeleton in patients with suspected Paget disease.
After diagnosis of Paget disease, measure serum total alkaline phosphatase or, when warranted, a more specific marker of bone formation or bone resorption to assess the response to treatment or the evolution of the disease in untreated patients.

In addition, the Endocrine Society guideline contains the following suggestions^[57]:

Obtain a radionucleotide bone scan to determine the extent of the disease if the diagnosis is confirmed.
Prescribe treatment with a bisphosphonate for most patients with active Paget disease who are at risk for future complications.
Administer a single 5-mg dose of intravenous zoledronate as the treatment of choice in patients who have no contraindication.
In patients with monostotic disease who have a normal serum total alkaline phosphatase concentration, measure a specific marker of bone formation and bone resorption.
If the markers are normal, consider serial radionuclide bone scans to determine the response to treatment.
Bisphosphonate treatment may be effective in preventing or slowing the progress of hearing loss and osteoarthritis in joints adjacent to Paget disease and may reverse paraplegia associated with spinal Paget disease.
Consider treatment with a bisphosphonate before surgery on pagetic bone.

Medication

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Media Gallery

Radiograph showing a 44-year-old African American man with characteristic changes of Paget disease in the left hemipelvis.
Radiograph showing a 72-year-old white woman with Paget disease of the lower leg and typical bowing.
Dual-energy x-ray absorptiometry scan of a 72-year-old white woman with Paget disease of the lower leg and typical bowing (same patient as in Image 2).

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Author

Mujahed M Alikhan, MD Rheumatologist

Mujahed M Alikhan, MD is a member of the following medical societies: American College of Physicians, American College of Rheumatology

Disclosure: Nothing to disclose.

Coauthor(s)

Karen Driver, MS Medical Writer, Procter and Gamble Company

Disclosure: Nothing to disclose.

Kristine M Lohr, MD, MS Professor, Department of Internal Medicine, Interim Chief, Division of Rheumatology, Director, Rheumatology Training Program, University of Kentucky College of Medicine

Kristine M Lohr, MD, MS is a member of the following medical societies: American College of Physicians, American College of Rheumatology

Disclosure: Nothing to disclose.

Chief Editor

Herbert S Diamond, MD Visiting Professor of Medicine, Division of Rheumatology, State University of New York Downstate Medical Center; Chairman Emeritus, Department of Internal Medicine, Western Pennsylvania Hospital

Herbert S Diamond, MD is a member of the following medical societies: Alpha Omega Alpha, American College of Physicians, American College of Rheumatology, American Medical Association, Phi Beta Kappa

Disclosure: Nothing to disclose.

Acknowledgements

Laura D Carbone, MD, MS Professor of Medicine, Division of Connective Health Diseases, Director, Memphis Metabolic Bone Center, Department of Medicine, University of Tennessee Health Science Center College of Medicine

Laura D Carbone, MD, MS is a member of the following medical societies: Alpha Omega Alpha, American College of Rheumatology, American Medical Women’s Association, American Society for Bone and Mineral Research; and International Society for Clinical Densitometry

Disclosure: Novartis Honoraria Consulting, Speaking and teaching; P&G Honoraria Consulting, Speaking and teaching

Elliot Goldberg, MD Dean of the Western Pennsylvania Clinical Campus, Professor, Department of Medicine, Temple University School of Medicine

Elliot Goldberg, MD is a member of the following medical societies: Alpha Omega Alpha, American College of Physicians, and American College of Rheumatology

Disclosure: Nothing to disclose.

Marlon J Navarro, MD Fellow, Department of Rheumatology, University of Tennessee at Memphis

Disclosure: Nothing to disclose.

Francisco Talavera, PharmD, PhD Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Medscape Salary Employment