Primary Biliary Cirrhosis in a genetically homogeneous population: Disease associations and familial occurrence rates

BMC Gastroenterology

Research Article

Aikaterini Darivianaki¹  Mairi Koulentaki²  Jean Marie Enele-Melono²  Aikaterini Mantaka²  Elias A Kouroumalis²  Maria Tzardi³  Gregory Chlouverakis⁴ 

[1] Department of Clinical Immunology, University Hospital of Heraklion, PO BOX 1352, 71100, Heraklion, Crete, Greece;Department of Gastroenterology and Hepatology, University Hospital of Heraklion, P.O. BOX 1352, 71100, Heraklion, Crete, Greece;Department of Pathology, University Hospital of Heraklion, PO BOX 1352, 71100, Heraklion, Crete, Greece;Department of Social Medicine, Faculty of Medicine, University of Crete, 71100, Heraklion, Greece;

关键词: Familial pbc;    risk factors;    cholecystectomy;    dyslipidaemia;    cancer;    educational level;   

DOI  :  10.1186/1471-230X-12-110

 received in 2011-12-08, accepted in 2012-07-16,  发布年份 2012

来源: Springer

【 摘 要 】

BackgroundPrimary biliary cirrhosis (PBC) is a disease with genetic and environmental pathogenetic background. Chemicals, infectious agents, hormone therapy, reproductive history and surgical interventions have been implicated in the induction of PBC. Familial PBC has been documented in first degree relatives (FDR). Most cohort studies are genetically heterogeneous. Our study aimed to determine eventual lifestyle or disease associations and familial occurrence rates in a genetically homogeneous and geographically defined population of PBC patients.Methods111 consenting PBC patients, were compared with 115 FDR and 149 controls matched for age, sex, Cretan origin and residence. All participants completed a questionnaire regarding demographics, lifestyle, medical, surgical and reproductive history. Significant variables on the univariate analysis were analyzed by multivariate analysis using a forward step-wise logistic regression model.ResultsDyslipidaemia was found in 69.4% of patients, 60% of FDR and 40.9% of controls (p < 0.0001 and p = 0.003 respectively), autoimmune diseases in 36.9% of patients, 30.4% of FDR and 13.4% of controls (p < 0.0001 and p = 0.011 respectively). Hashimoto’s disease (p = 0.003), Raynaud syndrome (p = 0.023) and Sjögren syndrome (p = 0.044) were significantly associated with PBC. On multivariate analysis statistically significant associations were found with primary educational level (AOR 2.304, 95% CI 1.024-5.181), cholecystectomy (AOR 2.927, 95% CI 1.347-6.362) and the presence of at least another autoimmune disease (AOR 3.318, 95% CI 1.177-6.22). Cancer history was more frequent in patients than in controls (p = 0.033). Familial PBC was found to be 9.9%.ConclusionsDyslipidaemia and autoimmune diseases were significantly increased not only in patients as expected but also in their FDR. An increased prevalence of malignancies was found in patients. Primary educational level, cholecystectomy and the presence of at least another autoimmune disease were found as putative risk factors for PBC. No association was found with smoking, urinary tract infection or reproductive history. The reported high familial occurrence of PBC could imply screening with AMA of FDR with at least another autoimmune disease.

【 授权许可】

CC BY   
© Mantaka et al.; licensee BioMed Central Ltd. 2012