Cirrhosis in Hemochromatosis: Independent Risk Factors in 368 HFE p.C282Y Homozygotes

Annals of Hepatology

Wen-pin Chen¹  Christine E. McLaren²  Gordon D. McLaren³  John D. Phillips⁴  Lyle C. Gurrin⁵  Paul C. Adams⁵  Charles J. Parker⁶  Gregory J. Anderson⁷  Grant A. Ramm⁸  Pradyumna D. Phatak⁹  V. Nathan Subramaniam⁹  Mary J. Emond^1,10  Lawrie W. Powell^1,10  James C. Barton^1,11 

[1] Correspondence and reprint request:;Department of Medicine, University of Alabama at Birmingham, Birmingham, AL, USA;Institute of Health and Biomedical Innovation and School of Biomedical Sciences, Queensland University of Technology, Brisbane, QLD, Australia;;Royal Brisbane &School of Chemistry and Molecular Bioscience, University of Queensland, Brisbane St. Lucia, QLD, Australia;Women’s Hospital, Herston, QLD, Australia;Chao Family Comprehensive Cancer Center, Irvine, CA, USA;Department of Epidemiology, University of California, Irvine, CA, USA;Faculty of Medicine, The University of Queensland, Herston, QLD, Australia;QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia;Southern Iron Disorders Center, Birmingham, AL, USA;

关键词: Alcohol intake;    Diabetes;    Iron overload;    rs11558492;    rs1800562;   

DOI  :  

来源: DOAJ

【 摘 要 】

Introduction and aim. We sought to identify independent risk factors for cirrhosis in HFE p.C282Y homozygotes in a cross-sectional study.Material and methods. We evaluated 368 p.C282Y homozygotes who underwent liver biopsy and compared characteristics of those with and without cirrhosis. We performed multivariable logistic regression on cirrhosis with: age; sex; race/ ethnicity; diabetes; blood pints/units donated voluntarily; erythrocyte pints/units received; iron supplement use; alcohol intake, g/d; body mass index, kg/m2; swollen/tender 2nd/3rd metacarpophalangeal joints; elevated alanine aminotransferase; elevated aspartate aminotransferase; steatosis/fatty liver; iron removed by phlebotomy, g; and GNPATp.D519G positivity.Results. Mean age of 368 participants (73.6% men) was 47 ± 13 (standard deviation) y. Cirrhosis was diagnosed in 86 participants (23.4%). Participants with cirrhosis had significantly greater mean age, proportion of men, diabetes prevalence, mean daily alcohol intake, prevalence of swollen/tender 2nd/3rd metacarpophalangeal joints, mean serum ferritin, elevated alanine aminotransferase, elevated aspartate aminotransferase, and mean iron removed; and significantly fewer mean blood pints/units donated. GNPATp.D519G positivity was detected in 82 of 188 participants (43.6%). In a multivariable model for cirrhosis, there were four significant positive associations: age (10-y intervals) (odds ratio 2.2 [95% confidence interval 1.5, 3.3]); diabetes (3.3; [1.1, 9.7]); alcohol intake (14 g alcohol drinks/ d) (1.5 [1.2, 1.8]); and iron removed, g (1.3 [1.2, 1.4]). There was no statistical evidence of two-way interactions between these variables.Conclusion. In conclusion, cirrhosis in HFE p.C282Y homozygotes is significantly associated with age, diabetes, daily alcohol intake, and iron removed by phlebotomy, taking into account the effect of other variables.

【 授权许可】

Unknown