Paget Disease of Bone for Primary Care

 

Am Fam Physician. 2020 Aug 15;102(4):224-228.

  Patient information: See related handout on Paget disease of bone, written by the authors of this article.

Author disclosure: No relevant financial affiliations.

Paget disease of bone is a benign disorder characterized by focal areas of increased bone turnover in one or more skeletal sites. It usually affects older adults, and men are at a higher risk than women. Any bone may be affected, but the disease has a high preference for the pelvis, spine, skull, and long bones. Pain is the most common symptom, and presentation of the disease may depend on which bones are affected, the extent of involvement, and the presence of complications. Paget disease of bone may be asymptomatic, and suspicion arises from incidental findings of elevated serum alkaline phosphatase levels on routine blood work or abnormalities on imaging tests performed for an unrelated cause. Evidence-based guidelines recommend the use of plain radiography and serum alkaline phosphatase testing for initial diagnosis and radionuclide scans for delineation of the extent of disease. Treatment with nitrogen-containing bisphosphonates is recommended in active disease or when risk of complications is possible. Complications of the disease include arthritis, gait changes, hearing loss, nerve compression syndromes, and osteosarcoma. Total serum alkaline phosphatase is the suggested marker for assessing treatment response when high bone turnover occurs, and it should be measured at three to six months to evaluate initial response. Early diagnosis of Paget disease of bone remains key to its management because patients generally have a good prognosis if treatment is initiated before major complications arise. The primary care physician may need to consult with a specialist for confirmation of diagnosis and initiation of treatment.

Paget disease of bone is a benign skeletal disorder characterized by focal areas of increased bone resorption and disorganized bone formation.1 These focal lesions, called pagetic lesions, may be confined to a single site (monostotic) or several sites (polyostotic) of the skeleton. Although any bone may be affected, the pelvis, femur, lumbar spine, thoracic spine, skull, and tibia are most common.2

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SORT: KEY RECOMMENDATIONS FOR PRACTICE

Clinical recommendationEvidence ratingComments

Patients thought to have Paget disease of bone should have plain radiography of suspicious regions, and those who are asymptomatic with elevated levels of total serum alkaline phosphatase should have plain radiography of the abdomen, skull and facial bones, and tibia.16,18,19

C

Recommendation based on practice guidelines referral

Patients diagnosed with Paget disease of bone should have a radionuclide scan to determine the extent of the disease.16,18,19

C

Consistent findings from evidence-based practice guidelines

After initial radiographic diagnosis, patients should be assessed biochemically using total serum alkaline phosphatase in combination with liver function tests. In patients with normal levels of total serum alkaline phosphatase but high suspicion of Paget disease of bone, bone-specific markers such as bone-specific alkaline phosphatase, procollagen type I N-terminal propeptide, or urinary cross-linked N-terminal telopeptide of type I collagen should be evaluated.16,18,19

C

Expert opinion and practice guidelines

Nitrogen-containing bisphosphonates are recommended for the treatment of bone pain associated with Paget disease. A single 5-mg dose of zoledronic acid (Reclast) given intravenously is the treatment of choice.16,1820

B

Moderate-quality evidence from a Cochrane review and consistent recommendations from evidence-based practice guidelines

Evaluation of total serum alkaline phosphatase is suggested for monitoring treatment response where there is high bone turnover. Bone-specific markers, particularly procollagen type I N-terminal propeptide, are suggested in untreated monostotic disease or in liver disease. Osteolytic lesions may be monitored with annual plain radiography.16,18,19

C

Suggested recommendations by some treatment guidelines


A = consistent, good-quality patient-oriented evidence; B = inconsistent or limited-quality patient-oriented evidence; C = consensus, disease-oriented evidence, usual practice, expert opinion, or case series. For information about the SORT evidence rating system, go to https://www.aafp.org/afpsort.

The Authors

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NAHID J. RIANON, MD, DrPH, is the medical director for the Acute Care for the Elderly unit and an associate professor in the Division of Geriatric and Palliative Medicine and the Department of Internal Medicine and the Department of Family and Community Medicine at the University of Texas McGovern Medical School, Houston....

JUDE K. DES BORDES, MBChB, DrPH, is a research scientist in the Department of Family and Community Medicine at the University of Texas McGovern Medical School.

Address correspondence to Nahid J. Rianon, MD, DrPH, University of Texas McGovern Medical School, 6431 Fannin St., Houston, TX 77030 (email: Nahid.J.Rianon@uth.tmc.edu). Reprints are not available from the authors.

Author disclosure: No relevant financial affiliations.

References

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