Diagnosis, complications and treatment of Paget's disease of bone

Aging Health

Volumn 5, Issue 4, 2009, Pages 497-508

  Seton, Margaret ^a  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

Author keywords

Aging; Case study; Complications; Evaluation; Morbidity; Paget's disease of bone; Treatment

Indexed keywords

ALENDRONIC ACID; ALKALINE PHOSPHATASE; BISPHOSPHONIC ACID DERIVATIVE; CALCITONIN; ETIDRONIC ACID; PAMIDRONIC ACID; PARACETAMOL; RISEDRONIC ACID; TILUDRONIC ACID; ZOLEDRONIC ACID;

AGING; ALKALINE PHOSPHATASE BLOOD LEVEL; BONE BIOPSY; BONE MALFORMATION; BONE PAIN; BONE RADIOGRAPHY; BONE SCINTISCANNING; BONE TURNOVER; CLINICAL FEATURE; CLINICAL TRIAL; DISEASE ACTIVITY; DOSE RESPONSE; DRUG ABSORPTION; DRUG EFFICACY; DRUG HYPERSENSITIVITY; DRUG MECHANISM; DRUG TOLERABILITY; EVALUATION; FLU LIKE SYNDROME; FRACTURE; GENE MUTATION; HEARING LOSS; HUMAN; HYPERCALCEMIA; HYPOCALCEMIA; IRITIS; JAW OSTEONECROSIS; METABOLIC DISORDER; MORBIDITY; MORNING DOSAGE; MORTALITY; NEPHROLITHIASIS; NEPHROTOXICITY; OSTEOMALACIA; OSTEOSARCOMA; PAGET BONE DISEASE; PATHOGENESIS; QUALITY OF LIFE; REVIEW; SINGLE DRUG DOSE; SKULL DEFECT; TREATMENT OUTCOME;

EID: 70349106463     PISSN: 1745509X     EISSN: 17455103     Source Type: Journal    
DOI: 10.2217/ahe.09.39     Document Type: Review

References (87)

1. Paget SJ: On a form of chronic inflammation of bones (Osteitis deformans). Medical Chirulogical Transaction 29-53 (1877).
2. Resnick D, Niwayama G: Paget's disease. In: Diagnosis of Bone and Joint Disorders, 2nd Edition, Resnick D (Ed.). WB Saunders, Philadelphia, PA, USA 2127-2168 (1988).
3. Seton M, Choi HK, Hansen MF, Sebaldt RJ, Cooper C: Analysis of environmental factors in familial versus sporadic Paget's disease of bone - the New England Registry for Paget's Disease of Bone. J. Bone Miner. Res. 18, 1519-1524 (2003).
4. Siris ES, Roodman GD: Paget's Disease of Bone. Primer. 7, 335-343 (2008).
5. Siris ES: Paget's disease of bone. J. Bone Miner. Res. 13, 1061-1065 (1998).
6. Nicholas JJ, Srodes CH, Herbert D et al.: Metastatic cancer in Paget's disease of bone. A case report. Orthopedics 10, 725-729 (1987).
7. Lopez C, Thomas DV, Davies AM: Neoplastic transformation and tumour-like lesions in Paget's disease of bone: a pictorial review, Eur. Radiol. 13(Suppl. 4), L151-L163 (2003).
8. Rogers J, Jeffrey DR, Watt I: Paget's; disease in an archeological population. J. Bone Miner. Res. 17, 1127-1134 (2002).
9. Detheridge FM, Guyer PB, Barker DJ: European distribution of Paget's disease of bone. Br. Med. J. (Clin. Res. Ed.) 285, 1005-1008 (1982).
10. Barker DJ, Clough PW, Guyer PB, Gardner MJ: Paget's disease of bone in 14 British towns. BMJ 1, 1181-1183 (1977).
11. Barker DJ, Chamberlain AT, Guyer PB, Gardner MJ: Paget's disease of bone: the Lancashire focus. BMJ 280, 1105-1107 (1980).
12. Altman RD, Bloch DA, Hochberg MC, Murphy WA: Prevalence of pelvic Paget's disease of bone in the United States. J. Bone Miner. Res. 15, 461-465 (2000).
13. Price CH: The incidence of osteogenic sarcoma in South-West England and its relationship to Paget's disease of bone. J. Bone Joint Surg. Br. 44-B, 366-376 (1962).
14. Wick MR, Siegal GP, Unni KK, McLeod RA, Greditzer HG 3rd: Sarcomas of bone complicating osteitis deformans (Paget's disease): fifty years' experience. Am. J. Surg. Pathol. 5, 47-59 (1981).
15. Barry HC: Sarcoma in Paget's disease of bone in Australia. J. Bone Joint Surg. Am. 43, 1122-1134 (1961).
16. Merchant A, Smielewska M, Patel N et al.: Somatic mutations in SQSTM1 detected in affected tissues from patients with sporadic Paget's disease of bone. J. Bone Miner. Res. 24, 484-494 (2009).
17. Mankin HJ, Hornicek FJ: Paget's sarcoma: a historical and outcome review. Clin. Orthop. Relat. Res. 438, 97-102 (2005).
18. Rendina D, Gennari L, De Filippo G et al.: Evidence for increased clinical severity of familial and sporadic Paget's disease of bone in Campania, southern Italy. J. Bone Miner. Res. 21, 1828-1835 (2006).
19. Poor G, Donath J, Fornet B, Cooper C: Epidemiology of Paget's disease in Europe: the prevalence is decreasing. J. Bone Miner. Res. 21, 1545-1549 (2006).
20. Cundy T: Is the prevalence of Paget's disease of bone decreasing? J. Bone Miner. Res. 21(Suppl. 2), P9-P13 (2006).
21. Morales-Piga AA, Bachiller-Corral FJ, Abraira V, Beltran J, Rapado A: Is clinical expressiveness of Paget's disease of bone decreasing? Bone 30, 399-403 (2002).
22. Doyle T, Gunn J, Anderson G, Gill M, Cundy T: Paget's disease in New Zealand: evidence for declining prevalence. Bone 31, 616-619 (2002).
23. Siris ES, Ottman R, Flaster E, Kelsey JL: Familial aggregation of Paget's disease of bone. J. Bone Miner. Res. 6, 495-500 (1991).
24. Rosenbaum HD, Hanson DJ: Geographic variation in the prevalence of Paget's disease of bone. Radiology 92, 959-963 (1969).
25. Seton M: Paget's disease: epidemiology and pathophysiology. Curr. Osteoporos. Rep. 6, 125-129 (2008).
26. Holdaway IM, Ibbertson HK, Wattie D, Scragg R, Graham P: Previous pet ownership and Paget's disease. Bone Miner. 8, 53-58 (1990).
27. O'Driscoll JB, Buckler HM, Jeacock J, Anderson DC: Dogs, distemper and Osteitis deformans: a further epidemiological study. Bone Miner. 11, 209-216 (1990).
28. Siris ES: Epidemiological aspects of Paget's disease: family history and relationship to other medical conditions. Semin. Arthritis Rheum. 23, 222-225 (1994).
29. Merlotti D, Gennari L, Galli B et al.: Characteristics and familial aggregation of Paget's disease of bone in Italy. J. Bone Miner. Res. 20, 1356-1364 (2005).
30. Lever JH: Paget's disease of bone in Lancashire and arsenic pesticide in cotton mill wastewater: a speculative hypothesis. Bone 31, 434-436 (2002).
31. Mills BG, Singer FR, Werner LP, Holst PA: Cell cultures from bone affected by Paget's disease. Arthritis Rheum. 23, 1115-1120 (1980).
32. Rebel A, Basle M, Pouplard A, Malkani K, Filmon R, Lepatezour A: Towards a viral etiology for Paget's disease of bone. Metab. Bone Dis. Relat. Res. 3, 235-238 (1981).
33. Reddy SV, Menaa C, Singer FR et al.: Measles virus nucleocapsid transcript expression is not restricted to the osteoclast lineage in patients with Paget's disease of bone. Exp. Hematol. 27, 1528-1532 (1999).
34. Kurihara N, Zhou H, Reddy SV et al.: Expression of measles virus nucleocapsid protein in osteoclasts induces Paget's disease-like bone lesions in mice. J. Bone Miner. Res. 21, 446-455 (2006).
35. Laurin N, Brown JP, Morissette J, Raymond V: Recurrent mutation of the gene encoding sequestosome 1 (SQSTM1/p62) in Paget disease of bone. Am. J. Hum. Genet. 70, 1582-1588 (2002).
36. Ciani B, Layfield R, Cavey JR, Sheppard PW, Searle MS: Structure of the ubiquitin-associated domain of p62 (SQSTM1) and implications for mutations that cause Paget's disease of bone. J. Biol. Chem. 278, 37409-37412 (2003).
37. Long J, Gallagher TR, Cavey JR et al.: Ubiquitin recognition by the ubiquitin-associated domain of p62 involves a novel conformational switch. J. Biol. Chem. 283, 5427-5440 (2008).
38. Layfield R, Shaw B: Ubiquitin-mediated signalling and Paget's disease of bone. BMC Biochem. 8(Suppl. 1), S5 (2007).
39. Zatloukal K, Stumptner C, Fuchsbichler A et al.: p62 is a common component of cytoplasmic inclusions in protein aggregation diseases. Am. J. Pathol. 160, 255-263 (2002).
40. Kuusisto E, Salminen A, Alafuzoff I: Early accumulation of p62 in neurofibrillary tangles in Alzheimer's disease: possible role in tangle formation. Neuropathol. Appl. Neurobiol. 28, 228-237 (2002).
41. Reddy SV, Kurihara N, Menaa C, Roodman GD: Paget's disease of bone: a disease of the osteoclast. Rev. Endocr. Metab. Disord. 2, 195-201 (2001).
42. Reddy SV, Kurihara N, Menaa C et al.: Osteoclasts formed by measles virus-infected osteoclast precursors from hCD46 transgenic mice express characteristics of pagetic osteoclasts. Endocrinology 142, 2898-2905 (2001).
43. Kurihara N, Hiruma Y, Zhou H et al.: Mutation of the sequestosome 1 (p62) gene increases osteoclastogenesis but does not induce Paget disease. J. Clin. Invest. 117, 133-142 (2007).
44. Hiruma Y, Kurihara N, Subler MA et al.: A SQSTM1/p62 mutation linked to Paget's disease increases the osteoclastogenic potential of the bone microenvironment. Hum. Mol. Genet. 17, 3708-3719 (2008).
45. Helfrich MH, Hocking LJ: Genetics and aetiology of Pagetic disorders of bone. Arch. Biochem. Biophys. 473, 172-182 (2008).
46. Ralston SH: Pathogenesis of Paget's disease of bone. Bone 43, 819-825 (2008).
47. Bolland MJ, Tong PC, Naot D et al.: Delayed development of Paget's disease in offspring inheriting SQSTM1 mutations. J. Bone Miner. Res. 22, 411-415 (2007).
48. Seton M: Paget's disease of bone. In: Rheumatology (4th Edition). Hochberg MC, Smolen SJ, Weinlatt ME, Weisman MH (Eds). Mosby (Elsevier), Philadelphia, PA, USA 2(Section 195) (2008).
49. Monsell EM: The mechanism of hearing loss in Paget's disease of bone. Laryngoscope 114, 598-606 (2004).
50. Hadjipavlou AG, Gaitanis LN, Katonis PG, Lander P: Paget's disease of the spine and its management. Eur. Spine J. 10, 370-384 (2001).
51. Barry HC: Orthopedic aspects of Paget's disease of bone. Arthritis Rheum. 23, 1128-1130 (1980).
52. Siris E, Roodman GD: Paget's Disease Section X Chapter 82. In: Primer on the Metabolic Bone Diseases. Favus MJ (Ed). ASBMR, Washington, DC, USA 495-506 (2003).
53. Wallace K, Haddad JG, Gannon FH, Esterhai J, Kaplan FS: Skeletal response to immobilization in Paget's disease of bone: a case report. Clin. Orthop, Relat. Res. 156-240 (1996).
54. Hansen MF, Seton M, Merchant A: Osteosarcoma in Paget's disease of bone. J. Bone Miner.. Res. 21(Suppl. 2), P58-P63 (2006).
55. Guyer PB, Chamberlain AT, Ackery DM, Rolfe EB, The anatomic distribution of Osteitis deformans. Clin, Orthop. Relat. Res. 141-144 (1981).
56. Guyer PB: The clinical relevance of radiologically revealed Paget's disease of bone (Osteitis deformans). Br. J. Surg. 66, 438-443 (1979).
57. Harinck HI, Bijvoet OL, Vellenga CJ, Blanksma HJ, Frijlink WB: Relation between signs and symptoms in Paget's disease of bone. Q J Med. 58, 133-151 (1986).
58. Hamdy RC, Moore S, LeRoy J: Clinical presentation of Paget's disease of the bone in older patients. South Med. J. 86, 1097-1100 (1993).
59. Winfield J: The rheumatology of Paget's disease. Clin. Rheum. Dis. 12, 707-728 (1986).
60. Hadjipavlou AG, Katonis PG, Tzermiadianos MN, Tsoukas GM, Sapkas G: Principles of management of osteometabolic disorders affecting the aging spine. Eur. Spine J. 12(Suppl. 2), S113-S131 (2003).
61. van Staa TP, Selby P, Leufkens HG, Lyles K, Sprafka JM, Cooper C: Incidence and natural history of Paget's disease of bone in England and Wales. J. Bone Miner. Res. 17, 465-471 (2002).
62. Gold DT, Boisture J, Shipp KM, Pieper CF, Lyles KW: Paget's disease of bone and quality of life. J. Bone Miner. Res. 11, 1897-1904 (1996).
63. Langston AL, Campbell MK, Fraser WD et al.: Clinical determinants of quality of life in Paget's disease of bone. Calcif. Tissue Int. 80, 1-9 (2007).
64. Wermers RA, Tiegs RD, Atkinson EJ, Achenbach SJ, Melton LJ: Morbidity and mortality associated with Paget's disease of bone: a population-based study. J. Bone Miner. Res. 23(6), 819-825 (2008).
65. Cremers S, Garnero P: Biochemical markers of bone turnover in the clinical development of drugs for osteoporosis and metastatic bone disease: potential uses and pitfalls. Drugs 66, 2031-2058 (2006).
66. Reid IR, Davidson JS, Wattie D et al.: Comparative responses of bone turnover markers to bisphosphonate therapy in Paget's disease of bone. Bone 35, 224-230 (2004).
67. Alvarez L, RicOs C, Peris P et al.: Components of biological variation of biochemical markers of bone turnover in Paget's bone disease. Bone 26, 571-576 (2000).
68. Singer FR, Clemens TL, Eusebio RA, Bekker PJ: Risedronate, a highly effective oral agent in the treatment of patients with severe Paget's disease. J. Clin. Endocrinol: Metab. 83, 1906-1910 (1998).
69. Siris E, Weinstein RS, Altman R et al.: Comparative study of alendronate versus etidronate for the treatment of Paget's disease of bone. J. Clin. Endocrinol. Metab. 81, 961-967 (1996).
70. Lombardi A: Treatment of Pager's disease of bone with alendronate. Bone 24, 59S-61S (1999).
71. Seton M, Krane SM: Use of zoledronic acid in the treatment of Paget's disease. Ther. Clin. Risk Manag. 3, 913-918 (2007).
72. Merlotti D, Gennari L, Martini G et al.: Comparison of different intravenous bisphosphonate regimens for Paget's disease of bone. J. Bone Miner. Res. 22, 1510-1517 (2007).
73. Maricic M: Zoledronic acid for Paget's disease of bone. Drugs Today (Barc) 43, 879-885 (2007).
74. Hosking D, Lyles K, Brown J P et al.: Long-term control of bone turnover in Paget's disease with zoledronic acid and risedronate. J. Bone Miner. Res. 22, 142-148 (2007).
75. Reid IR, Miller P, Lyles K et al.: Comparison of a single infusion of zoledronic acid with risedronate for Paget's disease. N. Engl. J. Med. 353, 898-908 (2005).
76. Luckman SP, Hughes DE, Coxon FP, Graham R, Russell G, Rogers MJ: Nitrogen-containing bisphosphonates inhibit the mevalonate pathway and prevent post-translational prenylation of GTP-binding proteins, including Ras. J. Bone Miner. Res. 13, 581-589 (1998).
77. Hewitt RE, Lissina A, Green AE et al.. The bisphosphonate acute phase response: rapid and copious production of proinflammatory cytokines by peripheral blood gd T cells in response to aminobisphosphonates is inhibited by statins. Clin. Exp. Immunol. 139, 101-111 (2005).
78. Marx RE, Sawatari Y, Fortin M, Broumand V: Bisphosphonate-induced exposed bone (osteonecrosis/osteopetrosis) of the jaws: risk factors, recognition, prevention, and treatment. J. Oral Maxillofac. Surg. 63, 1567-1575 (2005).
79. Marx RE: Pamidronate (Aredia) and zoledronate (Zometa) induced avascular necrosis of the jaws: a growing epidemic. J. Oral-Maxillofac. Surg. 61, 1115-1117 (2003).
80. Edwards BJ, Gounder M, McKoy JM et al.: Pharmacovigilance and reporting oversight in US FDA fast-track process: bisphosphonates and osteonecrosis of the jaw. Lancet Oncol. 9, 1166-1172 (2008).
81. Grewal VS, Fayans EP: Bisphosphonate-associated osteonecrosis: a clinician's reference to patient management. Todays FDA 20, 38-41, 43-46 (2008).
82. Kuehn BM: Long-term risks of bisphosphonates probed. JAMA 301, 710-711 (2009).
83. Bunch TJ, Anderson JL, May HT et al.: Relation of bisphosphonate therapies and risk of developing atrial fibrillation. Am. J. Cardiol. 103, 824-828 (2009).
84. Siris ES: Bisphosphonates and iritis. Lancet 341, 436-437 (1993).
85. Bonomi M, Nortilli R, Molino A et al.: Renal toxicity and osteonecrosis of the jaw in cancer patients treated with bisphosphonates: a long-term retrospective analysis. Med. Oncol. (2009).
86. Vellenga CJ, Pauwels EK, Bijvoet OL, Hosking DJ, Frijlink WB: Bone scintigraphy in Paget's disease treated with combined calcitonin and diphosphonate (2HDP). Metab. Bone Dis. Relat. Res. 4, 103-111 (1982).
87. Griffith K, Pearson D, Parker C et al.: The use of a whole body index with bone scintigraphy to monitor the response to therapy in Pager's disease. Nucl. Med. Commun. 22, 1069-1075 (2001).