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
SORT: KEY RECOMMENDATIONS FOR PRACTICE
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.
SORT: KEY RECOMMENDATIONS FOR PRACTICE
|Clinical recommendation||Evidence rating||Comments|
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
Recommendation based on practice guidelines referral
Consistent findings from evidence-based practice guidelines
Referencesshow all references
1. Ralston SH. Clinical practice. Paget's disease of bone. N Engl J Med. 2013;368(7):644–650....
2. Wermers RA, Tiegs RD, Atkinson EJ, et al. Morbidity and mortality associated with Paget's disease of bone: a population-based study. J Bone Miner Res. 2008;23(6):819–825.
3. Poór G, Donáth J, Fornet B, et al. Epidemiology of Paget's disease in Europe: the prevalence is decreasing. J Bone Miner Res. 2006;21(10):1545–1549.
4. Cooper C, Harvey NC, Dennison EM, et al. Update on the epidemiology of Paget's disease of bone. J Bone Miner Res. 2006;21(suppl 2):3–8.
5. van Staa TP, Selby P, Leufkens HG, et al. Incidence and natural history of Paget's disease of bone in England and Wales. J Bone Miner Res. 2002;17(3):465–471.
6. Altman RD, Bloch DA, Hochberg MC, et al. Prevalence of pelvic Paget's disease of bone in the United States. J Bone Miner Res. 2000;15(3):461–465.
7. Corral-Gudino L, Borao-Cengotita-Bengoa M, Del Pino-Montes J, et al. Epidemiology of Paget's disease of bone: a systematic review and meta-analysis of secular changes. Bone. 2013;55(2):347–352.
8. Corral-Gudino L, García-Aparicio J, Sánchez-González MD, et al. Secular changes in Paget's disease: contrasting changes in the number of new referrals and in disease severity in two neighboring regions of Spain. Osteoporos Int. 2013;24(2):443–450.
9. Cundy T. Paget's disease of bone. Metabolism. 2018;80:5–14.
10. Vallet M, Ralston SH. Biology and treatment of Paget's disease of bone. J Cell Biochem. 2016;117(2):289–299.
11. Eekhoff EW, Karperien M, Houtsma D, et al. Familial Paget's disease in The Netherlands: occurrence, identification of new mutations in the sequestosome 1 gene, and their clinical associations [published correction appears in Arthritis Rheum. 2004;50(6):2040]. Arthritis Rheum. 2004;50(5):1650–1654.
12. Tan A, Ralston SH. Clinical presentation of Paget's disease: evaluation of a contemporary cohort and systematic review. Calcif Tissue Int. 2014;95(5):385–392.
13. Langston AL, Campbell MK, Fraser WD, et al.; PRISM Trial Group. Randomized trial of intensive bisphosphonate treatment versus symptomatic management in Paget's disease of bone. J Bone Miner Res. 2010;25(1):20–31.
14. Ralston SH. Pathogenesis of Paget's disease of bone. Bone. 2008;43(5):819–825.
15. Muschitz C, Feichtinger X, Haschka J, et al. Diagnosis and treatment of Paget's disease of bone: a clinical practice guideline. Wien Med Wochenschr. 2017;167(1–2):18–24.
16. Singer FR, Bone HG III, Hosking DJ, et al.; Endocrine Society. Paget's disease of bone: an Endocrine Society clinical practice guideline. J Clin Endocrinol Metab. 2014;99(12):4408–4422.
17. McCloskey EV, Kanis JA. Neurological complications of Paget's disease. Clin Rev Bone Miner Metab. 2002;1:135–143.
18. Selby PL, Davie MW, Ralston SH, et al.; Bone and Tooth Society of Great Britain; National Association for the Relief of Paget's Disease. Guidelines on the management of Paget's disease of bone [published correction appears in Bone. 2002;31(3):437]. Bone. 2002;31(3):366–373.
19. Ralston SH, Corral-Gudino L, Cooper C, et al. Diagnosis and management of Paget's disease of bone in adults: a clinical guideline. J Bone Miner Res. 2019;34(4):579–604.
20. Corral-Gudino L, Tan AJ, Del Pino-Montes J, et al. Bisphosphonates for Paget's disease of bone in adults. Cochrane Database Syst Rev. 2017;(12):CD004956.
21. Ralston SH, Langston AL, Reid IR. Pathogenesis and management of Paget's disease of bone. Lancet. 2008;372(9633):155–163.
22. FORTEO teriparatide (rDNA origin) injection 750 mcg/3 mL (product information). Lilly France; 2008. Accessed November 19, 2019. https://www.accessdata.fda.gov/drugsatfda_docs/label/2008/021318s015lbl.pdf
23. Siris ES, Feldman F. Natural history of untreated Paget's disease of the tibia. J Bone Miner Res. 1997;12(4):691–692.
24. Schneider D, Hofmann MT, Peterson JA. Diagnosis and treatment of Paget's disease of bone. Am Fam Physician. 2002;65(10):2069–2072. Accessed February 3, 2020. https://www.aafp.org/afp/2002/0515/p2069.html
Copyright © 2020 by the American Academy of Family Physicians.
This content is owned by the AAFP. A person viewing it online may make one printout of the material and may use that printout only for his or her personal, non-commercial reference. This material may not otherwise be downloaded, copied, printed, stored, transmitted or reproduced in any medium, whether now known or later invented, except as authorized in writing by the AAFP. Contact firstname.lastname@example.org for copyright questions and/or permission requests.
Want to use this article elsewhere? Get Permissions