它是继骨质疏松症之后第二常见的慢性骨重建性疾病。 大多数病例都是散发性的,但有 5-40% 的患者报告一级亲属有佩吉特骨病。[3]Siris ES, Ottman R, Flaster E, et al. Familial aggregation of Paget's disease of bone. J Bone Miner Res. 1991;6:495-500.http://www.ncbi.nlm.nih.gov/pubmed/2068956?tool=bestpractice.com[4]Morales-Piga AA, Rey-Rey JS, Corres-González J, et al. Frequency and characteristics of familial aggregation of Paget's disease of bone. J Bone Miner Res. 1995;10:663-670.http://www.ncbi.nlm.nih.gov/pubmed/7610939?tool=bestpractice.com[5]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. Arthritis Rheum. 2004;50:1650-1654.http://www.ncbi.nlm.nih.gov/pubmed/15146436?tool=bestpractice.com 美国和英国的发病率一直在下降。 英国 55 岁及以上男性患病率约为 2.5%,女性约为 1.6%。 1974 年至 1994 年期间,年龄调整患病率急剧下降。[6]Cooper C, Schaftheutle K, Dennison E, et al. The epidemiology of Paget's disease in Britain: is the prevalence decreasing? J Bone Miner Res. 1999;14:192-197.http://www.ncbi.nlm.nih.gov/pubmed/9933472?tool=bestpractice.com 整个欧洲患病率相似。[7]Poor G, Donath J, Fornet B, et al. Epidemiology of Paget's disease in Europe: the prevalence is decreasing. J Bone Mineral Res. 2006;21:1545-1549.http://www.ncbi.nlm.nih.gov/pubmed/16995808?tool=bestpractice.com 在美国,现在认为 45 岁以上人群患病率约为 3.5%。[8]Cooper C, Dennison E, Schafheutle K, et al. Epidemiology of Paget's disease of bone. Bone. 1999;24:3S-5S.http://www.ncbi.nlm.nih.gov/pubmed/10321916?tool=bestpractice.com[9]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;15:461-465.http://www.ncbi.nlm.nih.gov/pubmed/10750560?tool=bestpractice.com 平均发病年龄为 55 岁,男女分布相当(但是在 45-74 岁年龄组中男性略微居多)。[9]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;15:461-465.http://www.ncbi.nlm.nih.gov/pubmed/10750560?tool=bestpractice.com 白人与黑人的患病率相同。[9]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;15:461-465.http://www.ncbi.nlm.nih.gov/pubmed/10750560?tool=bestpractice.com
佩吉特病可为单骨性 (25%)(累及 1 处骨骼,最常见的是股骨)或多骨性 (75%)(累及 1 处以上骨骼,通常为股骨、骨盆、颅骨或胫骨)。[1]Nance MA, Nuttall FQ, Econs MJ, et al. Heterogeneity in Paget disease of the bone. Am J Med Genet. 2000 Jun 19;92(5):303-7.http://www.ncbi.nlm.nih.gov/pubmed/10861657?tool=bestpractice.com[2]Hocking L, Slee F, Haslam SI, et al. Familial Paget's disease of bone: patterns of inheritance and frequency of linkage to chromosome 18q. Bone. 2000 Jun;26(6):577-80.http://www.ncbi.nlm.nih.gov/pubmed/10831928?tool=bestpractice.com Paget 病可能累及所有骨骼,但最常见的是累及股骨和骨盆(75% 的患者)以及颅骨(37% 的患者)。[10]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;17:465-471.http://www.ncbi.nlm.nih.gov/pubmed/11878305?tool=bestpractice.com[11]Monsell EM, Cody DD, Bone HG, et al. Hearing loss as a complication of Paget's disease of bone. J Bone Miner Res. 1999;14:92-95.http://www.ncbi.nlm.nih.gov/pubmed/10510222?tool=bestpractice.com