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.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 81-87 |
| Number of pages | 7 |
| Journal | Journal of Autoimmunity |
| Volume | 46 |
| DOIs | |
| State | Published - Oct 2013 |
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Keywords
- Clinical epidemiology
- Primary biliary cirrhosis
ASJC Scopus subject areas
- Immunology
- Immunology and Allergy
Cite this
The limitations and hidden gems of the epidemiology of primary biliary cirrhosis. / Podda, Mauro; Selmi, Carlo; Lleo, Ana; Moroni, Luca; Invernizzi, Pietro.
In: Journal of Autoimmunity, Vol. 46, 10.2013, p. 81-87.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - The limitations and hidden gems of the epidemiology of primary biliary cirrhosis
AU - Podda, Mauro
AU - Selmi, Carlo
AU - Lleo, Ana
AU - Moroni, Luca
AU - Invernizzi, Pietro
PY - 2013/10
Y1 - 2013/10
N2 - 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.
AB - 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.
KW - Clinical epidemiology
KW - Primary biliary cirrhosis
UR - http://www.scopus.com/inward/record.url?scp=84886287502&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84886287502&partnerID=8YFLogxK
U2 - 10.1016/j.jaut.2013.06.015
DO - 10.1016/j.jaut.2013.06.015
M3 - Article
C2 - 23871640
AN - SCOPUS:84886287502
VL - 46
SP - 81
EP - 87
JO - Journal of Autoimmunity
JF - Journal of Autoimmunity
SN - 0896-8411
ER -