Prevalence of the hemochromatosis gene mutation in patients with nonalcoholic steatohepatitis and correlation with degree of liver fibrosis

Detalhes bibliográficos
Autor(a) principal: Zamin Jr,Idilio
Data de Publicação: 2006
Outros Autores: Mattos,Angelo Alves de, Mattos,Ângelo Zambam de, Migon,Eduardo, Bica,Claudia, Alexandre,Cláudio Osmar Pereira
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Arquivos de gastroenterologia (Online)
Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-28032006000300013
Resumo: BACKGROUND: Nonalcoholic steatohepatitis is a chronic liver disease with a high prevalence in the general population and a potential to evolve into cirrhosis. It is speculated that iron overload could be associated with liver injury and unfavorable progress in affected patients. AIMS: To evaluate the prevalence of mutation of the hemochromatosis gene (HFE) in patients with nonalcoholic steatohepatitis and to correlate it with histological findings in liver specimens. PATIENTS AND METHODS: Twenty-nine patients with nonalcoholic steatohepatitis were evaluated. The presence of mutation in the hemochromatosis gene (C282Y and H63D) was tested in all patients and its result was evaluated in relation to hepatic inflammatory activity, presence of fibrosis, and iron overload in the liver. The control group was composed of 20 patients with normal liver function tests and 20 patients infected with the hepatitis C virus, with elevated serum levels of aminotransferases and with chronic hepatitis as shown by biopsy. RESULTS: Mutation of the hemochromatosis gene (C282Y and/or H63D) was diagnosed in 16 (55.2%) patients with nonalcoholic steatohepatitis, in 12 (60%) patients with hepatitis C and in 8 (40%) patients with no liver disease. No association was found between the presence of mutation and inflammatory activity, nor with the presence of fibrosis in patients with nonalcoholic steatohepatitis. An association was found between the presence of mutation and the occurrence of iron overload in liver, but there was no association between liver iron and the occurrence of fibrosis. CONCLUSIONS: The findings suggest that iron does not play a major role in the pathogenesis and progression of nonalcoholic steatohepatitis, and routine tests of the hemochromatosis gene mutation in these patients should not be recommended.
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spelling Prevalence of the hemochromatosis gene mutation in patients with nonalcoholic steatohepatitis and correlation with degree of liver fibrosisHemochromatosisFatty liverLiver cirrhosisBACKGROUND: Nonalcoholic steatohepatitis is a chronic liver disease with a high prevalence in the general population and a potential to evolve into cirrhosis. It is speculated that iron overload could be associated with liver injury and unfavorable progress in affected patients. AIMS: To evaluate the prevalence of mutation of the hemochromatosis gene (HFE) in patients with nonalcoholic steatohepatitis and to correlate it with histological findings in liver specimens. PATIENTS AND METHODS: Twenty-nine patients with nonalcoholic steatohepatitis were evaluated. The presence of mutation in the hemochromatosis gene (C282Y and H63D) was tested in all patients and its result was evaluated in relation to hepatic inflammatory activity, presence of fibrosis, and iron overload in the liver. The control group was composed of 20 patients with normal liver function tests and 20 patients infected with the hepatitis C virus, with elevated serum levels of aminotransferases and with chronic hepatitis as shown by biopsy. RESULTS: Mutation of the hemochromatosis gene (C282Y and/or H63D) was diagnosed in 16 (55.2%) patients with nonalcoholic steatohepatitis, in 12 (60%) patients with hepatitis C and in 8 (40%) patients with no liver disease. No association was found between the presence of mutation and inflammatory activity, nor with the presence of fibrosis in patients with nonalcoholic steatohepatitis. An association was found between the presence of mutation and the occurrence of iron overload in liver, but there was no association between liver iron and the occurrence of fibrosis. CONCLUSIONS: The findings suggest that iron does not play a major role in the pathogenesis and progression of nonalcoholic steatohepatitis, and routine tests of the hemochromatosis gene mutation in these patients should not be recommended.Instituto Brasileiro de Estudos e Pesquisas de Gastroenterologia e Outras Especialidades - IBEPEGE. 2006-09-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-28032006000300013Arquivos de Gastroenterologia v.43 n.3 2006reponame:Arquivos de gastroenterologia (Online)instname:Instituto Brasileiro de Estudos e Pesquisas de Gastroenterologiainstacron:IBEPEGE10.1590/S0004-28032006000300013info:eu-repo/semantics/openAccessZamin Jr,IdilioMattos,Angelo Alves deMattos,Ângelo Zambam deMigon,EduardoBica,ClaudiaAlexandre,Cláudio Osmar Pereiraeng2006-12-05T00:00:00Zoai:scielo:S0004-28032006000300013Revistahttp://www.scielo.br/aghttps://old.scielo.br/oai/scielo-oai.php||secretariaarqgastr@hospitaligesp.com.br1678-42190004-2803opendoar:2006-12-05T00:00Arquivos de gastroenterologia (Online) - Instituto Brasileiro de Estudos e Pesquisas de Gastroenterologiafalse
dc.title.none.fl_str_mv Prevalence of the hemochromatosis gene mutation in patients with nonalcoholic steatohepatitis and correlation with degree of liver fibrosis
title Prevalence of the hemochromatosis gene mutation in patients with nonalcoholic steatohepatitis and correlation with degree of liver fibrosis
spellingShingle Prevalence of the hemochromatosis gene mutation in patients with nonalcoholic steatohepatitis and correlation with degree of liver fibrosis
Zamin Jr,Idilio
Hemochromatosis
Fatty liver
Liver cirrhosis
title_short Prevalence of the hemochromatosis gene mutation in patients with nonalcoholic steatohepatitis and correlation with degree of liver fibrosis
title_full Prevalence of the hemochromatosis gene mutation in patients with nonalcoholic steatohepatitis and correlation with degree of liver fibrosis
title_fullStr Prevalence of the hemochromatosis gene mutation in patients with nonalcoholic steatohepatitis and correlation with degree of liver fibrosis
title_full_unstemmed Prevalence of the hemochromatosis gene mutation in patients with nonalcoholic steatohepatitis and correlation with degree of liver fibrosis
title_sort Prevalence of the hemochromatosis gene mutation in patients with nonalcoholic steatohepatitis and correlation with degree of liver fibrosis
author Zamin Jr,Idilio
author_facet Zamin Jr,Idilio
Mattos,Angelo Alves de
Mattos,Ângelo Zambam de
Migon,Eduardo
Bica,Claudia
Alexandre,Cláudio Osmar Pereira
author_role author
author2 Mattos,Angelo Alves de
Mattos,Ângelo Zambam de
Migon,Eduardo
Bica,Claudia
Alexandre,Cláudio Osmar Pereira
author2_role author
author
author
author
author
dc.contributor.author.fl_str_mv Zamin Jr,Idilio
Mattos,Angelo Alves de
Mattos,Ângelo Zambam de
Migon,Eduardo
Bica,Claudia
Alexandre,Cláudio Osmar Pereira
dc.subject.por.fl_str_mv Hemochromatosis
Fatty liver
Liver cirrhosis
topic Hemochromatosis
Fatty liver
Liver cirrhosis
description BACKGROUND: Nonalcoholic steatohepatitis is a chronic liver disease with a high prevalence in the general population and a potential to evolve into cirrhosis. It is speculated that iron overload could be associated with liver injury and unfavorable progress in affected patients. AIMS: To evaluate the prevalence of mutation of the hemochromatosis gene (HFE) in patients with nonalcoholic steatohepatitis and to correlate it with histological findings in liver specimens. PATIENTS AND METHODS: Twenty-nine patients with nonalcoholic steatohepatitis were evaluated. The presence of mutation in the hemochromatosis gene (C282Y and H63D) was tested in all patients and its result was evaluated in relation to hepatic inflammatory activity, presence of fibrosis, and iron overload in the liver. The control group was composed of 20 patients with normal liver function tests and 20 patients infected with the hepatitis C virus, with elevated serum levels of aminotransferases and with chronic hepatitis as shown by biopsy. RESULTS: Mutation of the hemochromatosis gene (C282Y and/or H63D) was diagnosed in 16 (55.2%) patients with nonalcoholic steatohepatitis, in 12 (60%) patients with hepatitis C and in 8 (40%) patients with no liver disease. No association was found between the presence of mutation and inflammatory activity, nor with the presence of fibrosis in patients with nonalcoholic steatohepatitis. An association was found between the presence of mutation and the occurrence of iron overload in liver, but there was no association between liver iron and the occurrence of fibrosis. CONCLUSIONS: The findings suggest that iron does not play a major role in the pathogenesis and progression of nonalcoholic steatohepatitis, and routine tests of the hemochromatosis gene mutation in these patients should not be recommended.
publishDate 2006
dc.date.none.fl_str_mv 2006-09-01
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-28032006000300013
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-28032006000300013
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.1590/S0004-28032006000300013
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
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dc.format.none.fl_str_mv text/html
dc.publisher.none.fl_str_mv Instituto Brasileiro de Estudos e Pesquisas de Gastroenterologia e Outras Especialidades - IBEPEGE.
publisher.none.fl_str_mv Instituto Brasileiro de Estudos e Pesquisas de Gastroenterologia e Outras Especialidades - IBEPEGE.
dc.source.none.fl_str_mv Arquivos de Gastroenterologia v.43 n.3 2006
reponame:Arquivos de gastroenterologia (Online)
instname:Instituto Brasileiro de Estudos e Pesquisas de Gastroenterologia
instacron:IBEPEGE
instname_str Instituto Brasileiro de Estudos e Pesquisas de Gastroenterologia
instacron_str IBEPEGE
institution IBEPEGE
reponame_str Arquivos de gastroenterologia (Online)
collection Arquivos de gastroenterologia (Online)
repository.name.fl_str_mv Arquivos de gastroenterologia (Online) - Instituto Brasileiro de Estudos e Pesquisas de Gastroenterologia
repository.mail.fl_str_mv ||secretariaarqgastr@hospitaligesp.com.br
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