title: The limitations and hidden gems of the epidemiology of primary biliary cirrhosis.
abstract: Epidemiology is expected to provide important clues to our understanding of the enigmatic etiopathogenesis of primary biliary cirrhosis (PBC). First, a systematic review of population based studies indicated a wide range in the yearly incidence (0.33-5.8/100.000) and point prevalence (1.91-40.2/100.000) rates. Though different ethnic representations may also contribute it is likely that methodological issues, based on the retrospective survey of diagnosed cases, and time trend play a major role, also in view of the prolonged asymptomatic period of the disease. Of note, the highest prevalence rates (35-40/100.000) were found in areas characterized by high medical awareness and easier access to healthcare. Second, the search for serum AMA in unselected population sera may identify the largest possible number of patients who have or will develop the disease. Indeed, a surprisingly high AMA prevalence rate, ranging between 0.43 and 1%, appears likely in the general population despite the lack of adequate work-up in most studies. Third, the median female to male ratio for PBC is classically accepted as 9-10:1 but is significantly lower for AMA prevalence (2.5:1), death certificates for PBC (4.3:1) and liver transplantation (6:1), thus suggesting that PBC in men may be underdiagnosed in early stages or manifest a more severe progression. Lastly, studies of both PBC and serum AMA prevalence among family members and monozygotic twins strongly support the role played by genetic factors in the etiopathogenesis of the disease. In conclusion, PBC epidemiology is far from being a closed case and the numerous open issues will be solved through a collaborative effort and powerful data mining tools.
authors.affiliation: Liver Unit and Center for Autoimmune Liver Diseases, Humanitas Clinical and Research Center, Rozzano, Milan, Italy. Electronic address: mauro.podda@humanitas.it.
authors.forename: Mauro
authors.initials: M
authors.lastname: Podda
authors.forename: Carlo
authors.initials: C
authors.lastname: Selmi
authors.forename: Ana
authors.initials: A
authors.lastname: Lleo
authors.forename: Luca
authors.initials: L
authors.lastname: Moroni
authors.forename: Pietro
authors.initials: P
authors.lastname: Invernizzi
mesh_terms: D001323:Autoantibodies / Q000276:immunology*; D005192:Family Health; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D008105:Liver Cirrhosis, Biliary / Q000453:epidemiology / Q000235:genetics / Q000276:immunology*; D008297:Male; D008928:Mitochondria / Q000276:immunology*; D015995:Prevalence; D012737:Sex Factors
chemical_list: D001323:Autoantibodies
keywords: Clinical epidemiology; Primary biliary cirrhosis