Supplementary Material
Clinical Presentation of Paget’s Disease: Evaluation of a Contemporary Cohort and Systematic Review
Adrian TanMB ChB, MRCP
Stuart H Ralston MD, FRCP
Supplementary Table 1: Relation between Pagetic fractures and country specific hip fracture rates
Hip fracture rates, per 100,000 populationCountry / Studies included / Pagetic Fracture (%) / Female / Male / Source of hip fracture data
Brazil / [17;21] / 2.9 / 202 / 104 / Morales-Torres 2004 [14]
China / [18] / 0.0 / 97 / 87 / Dhanwal 2010 [11]
India / [24-26] / 27.0 / 105 / 159 / Dhanwal 2013 [10]
Ireland / [31] / 12.5 / 488 / 167 / Svedbom 2013 [12]
Italy / [5;20;28] / 7.2 / 189.5 / 498.5 / Svedbom 2013 [12]
Japan / [23] / 9.5 / 368 / 99.6 / Dhanwal 2010 [11]
Russia / [37] / 8.0 / 279 / 176 / Lesnyak 2012 [13]
Spain / [16] / 4.8 / 353 / 125.9 / Svedbom 2013 [12]
UK / [32;35;43]* / 16.2 / 523 / 186 / Svedbom 2013 [12]
USA / [15;22;34] / 9.5 / 553 / 197 / Dhanwal 2010 [11]
* Data from the present study was also included with the UK studies
Supplementary Figure 1. Correlation between Pagetic fracture and country-specific hip fracture rates in men and women.
Panel A: Relation between reported proportion of patients who presented with a Pagetic fracture in relation to country specific rates of hip fracture in women. Panel B. Relation between reported proportion of patients who presented with a Pagetic fracture in relation to country specific rates of hip fracture in men. Data from different countries are indicated as follows: CN- China; BRA –Brasil; ES – Spain; IT- Italy; RUS- Russia; JPN – Japan; USA – United States of America; IRL – Ireland; UK – United Kingdom; IN – India. Spearman correlation co-efficients are shown for all data and the data excluding India.
References
1. Ralston, S. H. (2013) Clinical practice. Paget's disease of bone. N.Engl.J.Med. 368: 644-650.
2. van Staa, T. P., Selby, P., Leufkens, H. G., Lyles, K., Sprafka, J. M., and Cooper, C. (2002) Incidence and natural history of Paget's disease of bone in England and Wales. J.Bone Miner.Res. 17: 465-471.
3. Poor, G., Donath, J., Fornet, B., and Cooper, C. (2006) Epidemiology of Paget's disease in Europe: the prevalence is decreasing. J.Bone Miner.Res. 21: 1545-1549.
4. Cundy, H. R., Gamble, G., Wattie, D., Rutland, M., and Cundy, T. (2004) Paget's disease of bone in New Zealand: continued decline in disease severity. Calcif.Tissue Int. 75: 358-364.
5. Rendina, D., Gennari, L., De, Filippo G., Merlotti, D., de, Campora E., Fazioli, F., Scarano, G., Nuti, R., Strazzullo, P., and Mossetti, G. (2006) 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.
6. Corral-Gudino, L., Garcia-Aparicio, J., Sanchez-Gonzalez, M. D., Miron-Canelo, J. A., Blanco, J. F., Ralston, S. H., and Del Pino-Montes, J. (2013) 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. 24: 443-450.
7. Corral-Gudino, L., Borao-Cengotita-Bengoa, M., Del Pino-Montes, J., and Ralston, S. H. (2013) Epidemiology of Paget's disease of bone: A systematic review and meta-analysis of secular changes. Bone 55: 347-352.
8. Selby, P. L., Davie, M. W., Ralston, S. H., and Stone, M. D. (2002) Guidelines on the management of Paget's disease of bone. Bone 31: 366-373.
9. Visconti, M. R., Langston, A. L., Alonso, N., Goodman, K., Selby, P. L., Fraser, W. D., and Ralston, S. H. (2010) Mutations of SQSTM1 are associated with severity and clinical outcome in Paget's disease of bone. J.Bone Miner.Res. 25: 2368-2373.
10. Dhanwal, D. K., Siwach, R., Dixit, V., Mithal, A., Jameson, K., and Cooper, C. (2013) Incidence of hip fracture in Rohtak district, North India. Arch.Osteoporos. 8: 135.
11. Dhanwal, D. K., Cooper, C., and Dennison, E. M. (2010) Geographic variation in osteoporotic hip fracture incidence: the growing importance of asian influences in coming decades. J.Osteoporos. 2010: 757102.
12. Svedbom, A., Hernlund, E., Ivergard, M., Compston, J., Cooper, C., Stenmark, J., McCloskey, E. V., Jonsson, B., and Kanis, J. A. (2013) Osteoporosis in the European Union: a compendium of country-specific reports. Arch.Osteoporos. 8: 137.
13. Lesnyak, O., Ershova, O., Belova, K., Gladkova, E., Sinitsina, O., Ganert, O., Romanova, M., Khodirev, V., JOhansson, H., McCloskey, E., and Kanis, J. A. (2012) Epidemiology of fracture in the Russian Federation and the development of a FRAX model. Arch.Osteoporos. 7: 67-73.
14. Morales-Torres, J. and Gutierrez-Urena, S. (2004) The burden of osteoporosis in Latin America. Osteoporos.Int. 15: 625-632.
15. Altman, R. D. (1980) Musculoskeletal manifestations of Paget's disease of bone. Arthritis & Rheumatism 23: 1121-1127.
16. Del Pino-Montes, J., Garcia de Yebenes Prous MA, Torrijos, Eslava A., Morales, Piga A., Carbonell, Abello J., Farrerons, Minguela J., Garrido, Garcia J., Gobbo, Montoya M., Rodriguez, Perez M., Tornero, Molina J., Guanabens, Gay N., and Carmona, L. (2009) [Characteristics of Paget's disease in Spain. Data from the National Paget's Register]. Reumatol.Clin. 5: 109-114.
17. Werner de Castro, G. R., Heiden, G. I., Zimmermann, A. F., Morato, E. F., Neves, F. S., Toscano, M. A., de Magalhaes Souza Fialho SC, and Pereira, I. A. (2012) Paget's disease of bone: analysis of 134 cases from an island in Southern Brazil: another cluster of Paget's disease of bone in South America. Rheumatol.Int. 32: 627-631.
18. Gu, J. M., Zhang, Z. L., Zhang, H., Hu, W. W., Wang, C., Yue, H., Ke, Y. H., He, J. W., Hu, Y. Q., Li, M., Liu, Y. J., and Fu, W. Z. (2012) Thirteen Chinese patients with sporadic Paget's disease of bone: clinical features, SQSTM1 mutation identification, and functional analysis. J.Bone Miner.Metab 30: 525-533.
19. Sankaran, S., Naot, D., Grey, A., and Cundy, T. (2012) Paget's disease in patients of Asian descent in New Zealand. J.Bone Miner.Res. 27: 223-226.
20. Varenna, M., Zucchi, F., Galli, L., Manara, M., De, Marco G., and Sinigaglia, L. (2010) Demographic and clinical features related to a symptomatic onset of Paget's disease of bone. J.Rheumatol. 37: 155-160.
21. Bandeira, F., Assuncao, V., Diniz, E. T., Lucena, C. S., and Griz, L. (2010) Characteristics of Paget's disease of bone in the city of Recife, Brazil. Rheumatol.Int. 30: 1055-1061.
22. Wermers, R. A., Tiegs, R. D., Atkinson, E. J., Achenbach, S. J., and Melton, L. J., III (2008) Morbidity and mortality associated with Paget's disease of bone: a population-based study. J.Bone Miner.Res. 23: 819-825.
23. Hashimoto, J., Ohno, I., Nakatsuka, K., Yoshimura, N., Takata, S., Zamma, M., Yabe, H., Abe, S., Terada, M., Yoh, K., Fukunaga, M., Cooper, C., Morii, H., and Yoshikawa, H. (2006) Prevalence and clinical features of Paget's disease of bone in Japan. J.Bone Miner.Metab 24: 186-190.
24. Anjali, Thomas, N., Rajaratnam, S., Shanthly, N., Oommen, R., and Seshadri, M. S. (2006) Paget's disease of bone: experience from a centre in southern India. J Assoc.Physicians India 54: 525-529.
25. Bhadada, S., Bhansali, A., Unnikrishnan, A. G., Khadgawat, R., Singh, S. K., Mithal, A., and Saikia, U. N. (2006) Does Paget's disease exist in India?: A series of 21 patients. J Assoc.Physicians India 54: 530-534.
26. Joshi, S. R., Ambhore, S., Butala, N., Patwardhan, M., Kulkarni, M., Pai, B., and Karne, R. (2006) Paget's disease from Western India. J Assoc.Physicians India 54: 535-538.
27. Holgado, S., Rotes, D., Guma, M., Monfort, J., Olive, A., Carbonell, J., and Tena, X. (2005) Paget's disease of bone in early adult life. Ann.Rheum.Dis. 64: 306-308.
28. Merlotti, D., Gennari, L., Galli, B., Martini, G., Calabro, A., De, Paola, V, Ceccarelli, E., Nardi, P., Avanzati, A., and Nuti, R. (2005) Characteristics and familial aggregation of Paget's disease of bone in Italy. J Bone Miner.Res. 20: 1356-1364.
29. Gonzalez, G., Brusco, F., Arteaga, L., Rodriguez, J., Jacobelli, S., Massardo, L., Ortiz, C., and Contreras, O. (2003) [Paget disease of bone in Chile: report of 15 cases]. Rev.Med.Chil. 131: 491-497.
30. Guma, M., Rotes, D., Holgado, S., Monfort, J., Olive, A., Carbonell, J., and Tena, X. (2002) [Paget's disease of bone: study of 314 patients]. Med.Clin.(Barc.) 119: 537-540.
31. Wang, L. M., Au-Yeong, M. L., and McKenna, M. J. (2002) Paget's disease of bone: presentation, extent and response to bisphosphonates. Ir.Med.J. 95: 244, 246.
32. Davie, M., Davies, M., Francis, R., Fraser, W., Hosking, D., and Tansley, R. (1999) Paget's disease of bone: a review of 889 patients. Bone 24: 11S-12S.
33. Monfort, J., Sala, D. R., Romero, A. B., Duro, J. C., Maymo, J., and Carbonell, J. (1999) Epidemiological, clinical, biochemical, and imaging characteristics of monostotic and polyostotic Paget's disease. Bone 24: 13S-14S.
34. Hamdy, R. C., Moore, S., and Leroy, J. (1993) Clinical presentation of Paget's disease of the bone in older patients. South.Med.J. 86: 1097-1100.
35. Winfield, J. and Stamp, T. C. (1984) Bone and joint symptoms in Paget's disease. Ann.Rheum.Dis. 43: 769-773.
36. Galbraith, H. J. B, Evans, E. C., and Lacey, J. (1977) Paget's disease of bone: a clinical and genetic study. Postgraduate Medical Journal 53: 33-39.
37. Klimova, M. K. (1958) [Osteitis deformans-Paget's disease analysis of clinical and x-ray studies on 238 subjects]. Vestn.Rentgenol.Radiol. 33: 29-36.
38. Russell, R. G., Smith, R., Preston, C., Walton, R. J., and Woods, C. G. (1974) Diphosphonates in Paget's disease. Lancet 1: 894-898.
39. Reid, I. R., Nicholson, G. C., Weinstein, R. S., Hosking, D. J., Cundy, T., Kotowicz, M. A., Murphy, W. A., Jr., Yeap, S., Dufresne, S., Lombardi, A., Musliner, T. A., Thompson, D. E., and Yates, A. J. (1996) Biochemical and radiologic improvement in Paget's disease of bone treated with alendronate: a randomized, placebo-controlled trial. Am.J.Med. 101: 341-348.
40. Langston, A. L., Campbell, M. K., Fraser, W. D., MacLennan, G. S., Selby, P. L., and Ralston, S. H. (2010) Randomised Trial of Intensive Bisphosphonate Treatment Versus Symptomatic Management in Paget's Disease of Bone. J.Bone Miner.Res. 25: 20-31.
41. Langston, A. L., Campbell, M. K., Fraser, W. D., Maclennan, G., Selby, P., and Ralston, S. H. (2007) Clinical Determinants of Quality of Life in Paget's Disease of Bone. Calcif.Tissue Int. 80: 1-9.
42. Albagha, O. M., Visconti, M. R., Alonso, N., Wani, S., Goodman, K., Fraser, W. D., Gennari, L., Merlotti, D., Gianfrancesco, F., Esposito, T., Rendina, D., Di, Stefano M., Isaia, G., Brandi, M. L., Guisti, F., Del Pino-Montes, J., Corral-Gudino, L., Gonzalez-Sarmiento, R., Ward, L., Rea, S. L., Ratajczak, T., Walsh, J. P., and Ralston, S. H. (2013) Common susceptibility alleles and SQSTM1 mutations predict disease extent and severity in a multinational study of patients with Paget's disease. J.Bone Miner.Res. 28: 2238-2246.
43. Galbraith, H. J., Evans, E. C., and Lacey, J. (1977) Paget's disease of bone--a clinical and genetic study. Postgraduate Medical Journal 53: 33-39.