Liver Unit and Center for Autoimmune Liver Diseases, Humanitas Clinical and Research Center, Rozzano, Milan, Italy.
J Autoimmun. 2013 Oct;46:81-7. doi: 10.1016/j.jaut.2013.06.015. Epub 2013 Jul 17.
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.
流行病学有望为我们理解原发性胆汁性肝硬化（PBC）神秘的病因发病机制提供重要线索。首先，对基于人群的研究进行系统综述表明，该病的年发病率（0.33-5.8/10 万）和现患率（1.91-40.2/10 万）差异很大。尽管不同的种族构成可能也有影响，但基于对确诊病例的回顾性调查以及时间趋势的方法学问题可能发挥了主要作用，考虑到该病的无症状期较长也是如此。值得注意的是，在医疗意识较高且更容易获得医疗保健的地区，发现了最高的患病率（35-40/10 万）。其次，在未选择的人群血清中寻找抗线粒体抗体（AMA）可能会发现尽可能多的已经或将要发生该病的患者。事实上，尽管大多数研究都没有进行充分的检查，但在一般人群中，AMA 的患病率（0.43-1%）似乎出人意料地高。第三，经典上，PBC 的男女比例中位数为 9-10:1，但 AMA 患病率（2.5:1）、PBC 的死亡证明（4.3:1）和肝移植（6:1）的男女比例显著降低，这表明男性 PBC 在早期可能诊断不足或表现出更严重的进展。最后，对 PBC 患者及其家族成员和同卵双胞胎的 AMA 患病率进行的研究强烈支持遗传因素在该病发病机制中的作用。总之，PBC 的流行病学远未得到解决，许多悬而未决的问题将通过协作努力和强大的数据挖掘工具得到解决。
