title: Characteristics and familial aggregation of Paget's disease of bone in Italy.
abstract: This study examined the characteristics of 147 PDB cases from Italy. Our data showed a reduced clinical severity of PDB with respect to other populations and provided further support of the importance of environmental factors (rural area of residence and animal contact) in the pathogenesis of PDB. Familial aggregation was observed in 15% of cases.
  
  
  BACKGROUND
  The etiology of Paget's disease of bone (PDB) remains unknown. Current evidence suggests that interactions among genetic or exogenous factors seem to be necessary for disease expression. Major epidemiological studies were performed in the United Kingdom and in other populations of British descent. To date, there are no reliable data on PDB characteristics among the Italian population, and its frequency in different areas of the country remains unknown.
  
  
  METHODS
  In an attempt to evaluate clinical characteristics, the proportion of familial cases and the influence of environmental features on the occurrence of the disease, we studied 147 consecutive PDB patients. For all subjects, a detailed medical history was obtained, and constitutional features were recorded. Characteristics of PDB patients were compared with those obtained from 323 consecutive non-Pagetic outpatient control subjects.
  
  
  CONCLUSIONS
  Of the 147 PDB patients, 22 (15%) had at least one other family member affected, 19 (13%) reported one family member with suspected features of PDB, and 106 (72%) were classified as sporadic PDB. Even though we observed a reduced clinical severity of PDB with respect to other populations (mean number of affected sites, 2.2 +/- 1.6), we did not find any evidence of a decreased severity of the disease over time. We also found an association of PDB with animal contact (odds ratio [OR], 2.22; p < 0.0005) and a significant prevalence of PDB in rural versus urban districts (OR, 2.42; p < 0.0005). Osteoarthritis (45%), fractures (14%), hearing loss (14%), and valvular calcifications (15%) were the most observed complications. Interestingly, the geographical distribution of PDB showed a concentration of cases in rural areas of Campania and Tuscany. These areas may indicate local clustering of PDB cases in Italy, similar to that observed in other countries.
authors: Department of Internal Medicine, Endocrine-Metabolic Sciences and Biochemistry, University of Siena, Siena, Italy. osteogene@unisi.it
authors: Daniela
authors: D
authors: Merlotti
authors: Luigi
authors: L
authors: Gennari
authors: Beatrice
authors: B
authors: Galli
authors: Giuseppe
authors: G
authors: Martini
authors: Anna
authors: A
authors: Calabrò
authors: Vincenzo
authors: V
authors: De Paola
authors: Elena
authors: E
authors: Ceccarelli
authors: Paolo
authors: P
authors: Nardi
authors: Annalisa
authors: A
authors: Avanzati
authors: Ranuccio
authors: R
authors: Nuti
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D000818:Animals; D000829:Animals, Domestic; D001842:Bone and Bones / Q000000981:diagnostic imaging; D004777:Environment; D005260:Female; D006801:Humans; D007558:Italy / Q000453:epidemiology; D008019:Life Style; D008297:Male; D010001:Osteitis Deformans / Q000150:complications / Q000453:epidemiology* / Q000209:etiology*; D011859:Radiography