|
Liver Cirrhosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Fibrosis stage can decrease following treatment in patients with hemochromatosis caused by mutations in the homeostatic iron regulator gene (HFE), but the effects on cirrhosis are not clear.
|
31622736 |
2019 |
|
Liver Cirrhosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
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.
|
30145563 |
2018 |
|
Liver Cirrhosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Finally, these findings support a larger scale screening for HERPUD1 R50H and HFE H63D variants in the sub-group of 1ATD patients developing significant chronic hepatic injuries (hepatomegaly, chronic cholestasis, elevated liver enzymes) and at risk developing liver cirrhosis.
|
28617828 |
2017 |
|
Liver Cirrhosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
RESEARCH DESIGN AND METHODS We studied these 16 variables in 159 nonscreening hemochromatosis probands with HFE C282Y homozygosity: age; sex; BMI; diabetes reports in first-degree family members (dichotomous); heavy ethanol consumption; cigarette smoking; elevated serum alanine aminotransferase/aspartate aminotransferase levels; nonalcoholic fatty liver; chronic viral hepatitis; cirrhosis; hand arthropathy; iron removed by phlebotomy; and positivity for HLA-A*01, B*08; A*03, B*07; and A*03, B*14 haplotypes.
|
23990522 |
2014 |
|
Liver Cirrhosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Association between rs236918 and cirrhosis was confirmed in Austrian/Swiss HFE C282Y homozygotes (P = 0.014; ORallelic = 1.82 (95% CI 1.12-2.95) but not in Swedish patients.
|
24556216 |
2014 |
|
Liver Cirrhosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The classical triad of skin hyperpigmentation, diabetes, and liver cirrhosis is nowadays rare but musculoskeletal symptoms are common in HFE-related hemochromatosis.
|
24264720 |
2014 |
|
Liver Cirrhosis
|
0.100 |
Biomarker
|
disease |
BEFREE |
In conclusion, the combination of HFE-haemochromatosis and occult HBV infection in this patient might have led to a sequel of cellular events that determined the development of HCC even in the absence of cirrhosis.
|
22989571 |
2013 |
|
Liver Cirrhosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In hemochromatosis probands homozygous for HFE C282Y, serum levels of ferritin greater than 1000 μg/L at diagnosis were positively associated with male sex and cirrhosis.
|
22265917 |
2012 |
|
Liver Cirrhosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Additionally, patients with cirrhosis did not have frequencies of HFE mutations different from those without cirrhosis.
|
22297603 |
2012 |
|
Liver Cirrhosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
This study was designed to determine the prevalence of iron overload in relation to HFE gene mutations among Polish patients with liver cirrhosis.
|
21669570 |
2011 |
|
Liver Cirrhosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We assessed the influence of Ala16Val-superoxide dismutase 2, Pro198Leu-glutathione peroxidase 1, and -463G/A-myeloperoxidase genotypes (high activity for the Ala, Pro, and G alleles, respectively) on the risks of cirrhosis and hepatocellular carcinoma (HCC) in patients homozygous for the C282Y-hemochromatosis (HFE) gene mutation.
|
20673159 |
2011 |
|
Liver Cirrhosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Hereditary hemochromatosis (HH), most often due to HFE C282Y homozygosity, is an iron overload disorder that can result in severe morbidity including hepatic cirrhosis.
|
19930418 |
2010 |
|
Liver Cirrhosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Most clinical cases are homozygous for the Cys282Tyr (C282Y) mutation in the HFE gene, with serum ferritin (SF) concentration >1000 microg/L as the strongest predictor of cirrhosis.
|
20583211 |
2010 |
|
Liver Cirrhosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Patients with HH carrying the HFE gene who were homozygous for the Cys282Tyr mutation, serum ferritin levels of 300-2000 ng/mL, transferrin saturation ≥ 45%, and no known history of cirrhosis were enrolled in this dose-escalation study to characterize the safety and efficacy of deferasirox, comprising a core and an extension phase (each 24 weeks).
|
20814896 |
2010 |
|
Liver Cirrhosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The influence of HFE gene mutations and liver iron overload on hepatocellular carcinoma (HCC) occurrence in patients with cirrhosis is subjected to controversial results.
|
18061182 |
2008 |
|
Liver Cirrhosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
There were no significant differences in the prevalence of HFE gene mutations among subjects with fibrosis (35.5%) versus cirrhosis (32.9%).
|
17101320 |
2006 |
|
Liver Cirrhosis
|
0.100 |
GeneticVariation
|
disease |
LHGDN |
Molecular analysis of A1AT (S and Z) and HFE (C282Y and H63D) gene mutations in Egyptian cases with HCV liver cirrhosis.
|
16802007 |
2006 |
|
Liver Cirrhosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Severe fibrosis and cirrhosis were associated more markedly with the presence of hemosiderin iron in the 3 hepatic compartments, HFE mutations, and high alcohol intake.
|
16416733 |
2005 |
|
Liver Cirrhosis
|
0.100 |
Biomarker
|
disease |
BEFREE |
We conclude that there is significant bone loss in HFE-related hemochromatosis that cannot solely be explained by hypogonadism or cirrhosis.
|
15928800 |
2005 |
|
Liver Cirrhosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Recent studies suggest that the risk for HCC in HFE -associated HH may be much lower and occurs predominantly in patients with cirrhosis at the time of diagnosis.
|
15508107 |
2004 |
|
Liver Cirrhosis
|
0.100 |
Biomarker
|
disease |
BEFREE |
In the second study (2002), 206 subjects with classical HFE-associated hemochromatosis in whom liver biopsy had been performed were evaluated to quantify the contribution of excess alcohol consumption to the development of cirrhosis in hemochromatosis.
|
12957297 |
2003 |
|
Liver Cirrhosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
After adjustment for duration of infection with hepatitis C virus, HFE mutations were also independently associated with the presence of bridging fibrosis or cirrhosis (odds ratio, 18; 95% confidence interval, 1.7-193).
|
12557137 |
2003 |
|
Liver Cirrhosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In HCV-infected patients, heterozygosity for the C282Y mutation in HFE was significantly associated with elevated serum ferritin levels, stainable liver iron, and advanced fibrosis or cirrhosis (F2-F4).
|
14557859 |
2003 |
|
Liver Cirrhosis
|
0.100 |
Biomarker
|
disease |
BEFREE |
Considering all HFE heterozygous HCV patients, odds ratios of 3.6 (CI 1.4-9.3; P<0.009) for cirrhosis and 3.1 (CI 1.3-7.3; P<0.009) for fibrosis were calculated.
|
12586300 |
2003 |
|
Liver Cirrhosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Whether or not HFE gene mutations are associated with an increased risk of HCC in patients with cirrhosis is unknown.
|
12865278 |
2003 |