Iron Binding Saturation and Genotypic Testing for Hereditary Hemochromatosis in Patients With Liver Disease

Nichols, Larry; Dickson, Gretchen; Phan, Phu G.; Kant, Jeffrey A.

doi:10.1309/bvcbnkyh7c1um71y

Cited by 5 publications

(3 citation statements)

References 18 publications

(17 reference statements)

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“…There are a limited number of studies reporting C282Y-homozygosity in unselected patients with liver disease [98][99][100]. Three to 5.3% of patients were C282Y-homozygous, which is about 10-fold higher than the reported prevalence in the general population.…”

Section: Liver Diseasementioning

confidence: 83%

EASL clinical practice guidelines for HFE hemochromatosis

Ji-don¹

2010

Journal of Hepatology

479

167

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Iron overload in humans is associated with a variety of genetic and acquired conditions. Of these, HFE hemochromatosis (HFE-HC) is by far the most frequent and most well-defined inherited cause when considering epidemiological aspects and risks for iron-related morbidity and mortality. The majority of patients with HFE-HC are homozygotes for the C282Y polymorphism [1]. Without therapeutic intervention, there is a risk that iron overload will occur, with the potential for tissue damage and disease. While a specific genetic test now allows for the diagnosis of HFE-HC, the uncertainty in defining cases and disease burden, as well as the low phenotypic penetrance of C282Y homozygosity poses a number of clinical problems in the management of patients with HC. This Clinical Practice Guideline will therefore, focus on HFE-HC, while rarer forms of genetic iron overload recently attributed to pathogenic mutations of transferrin receptor 2, (TFR2), hepcidin (HAMP), hemojuvelin (HJV), or to a sub-type of ferroportin (FPN) mutations, on which limited and sparse clinical and epidemiologic data are available, will not be discussed. We have developed recommendations for the screening, diagnosis, and management of HFE-HC.

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Section: Liver Diseasementioning

confidence: 83%

EASL clinical practice guidelines for HFE hemochromatosis

Ji-don¹

2010

Journal of Hepatology

479

167

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“…Moreover, iron overload was more intense in the presence of liver disease, as shown by higher serum concentrations of ferritin and transferrin saturation. Although ferritin and transferrin saturation may be questioned as markers of iron overload in the presence of liver disease, since ferritin elevation may result from necroinflammatory activity, and decreased hepatic protein production may occur secondary to liver disease [36] , resulting in lower TIBC and higher transferrin saturation, previous studies in patients with liver disease have shown significantly higher ferritin levels in patients with alcohol-related liver disease [12] . Furthermore, in the present study, we observed a positive correlation between serum ferritin and the degree of hepatic iron deposition in patients who had a liver biopsy.…”

Section: Discussionmentioning

confidence: 99%

Iron homeostasis and H63D mutations in alcoholics with and without liver disease

Machado¹,

Ravasco²,

Martins³

et al. 2009

WJG

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AIM:To evaluate the prevalence of HFE gene mutation and indices of disturbed iron homeostasis in alcoholics with and without liver disease. METHODS:One hundred and fifty-three heavy drinkers (defined as alcohol consumption > 80 g/d for at least 5 years) were included in the study. These comprised 78 patients with liver disease [liver disease alcoholics (LDA)] in whom the presence of liver disease was confirmed by liver biopsy or clinical evidence of hepatic decompensation, and 75 subjects with no evidence of liver disease, determined by normal liver tests on two occasions [non-liver disease alcoholics (NLDA)], were consecutively enrolled. Serum markers of iron status and HFE C282Y and H63D mutations were determined. HFE genotyping was compared with data obtained in healthy blood donors from the same geographical area. RESULTS:Gender ratio was similar in both study groups. LDA patients were older than NLDA patients (52 ± 10 years vs 48 ± 11 years, P = 0.03). One third and one fifth of the study population had serum transferrin saturation (TS) greater than 45% and 60% respectively. Serum iron levels were similar in both groups. However, LDA patients had higher TS (51 ± 27 vs 36 ± 13, P < 0.001) and ferritin levels (559 ± 607 ng/mL vs 159 ± 122 ng/mL, P < 0.001), and lower total iron binding capacity (TIBC) (241 ± 88 µg/dL vs 279 ± 40 µg/dL, P = 0.001). The odds ratio for having liver disease with TS greater than 45% was 2.20 (95% confidence interval (CI): 1.37-3.54). There was no difference in C282Y allelic frequency between the two groups. However, H63D was more frequent in LDA patients (0.25 vs 0.16, P = 0.03). LDA patients had a greater probability of carrying at least one HFE mutation than NLDA patients (49.5% vs 31.6%, P = 0.02). The odds ratio for LDA in patients with H63D mutation was 1.57 (95% CI: 1.02-2.40). CONCLUSION:The present study confirms the presence of iron overload in alcoholics, which was more severe in the subset of subjects with liver disease, in parallel with an increased frequency of H63D HFE mutation.

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“…Portadores de cirrose hepática apresentam maiores graus de sobrecarga de ferro. 91,99 No presente estudo, observou-se que a média dos índices séricos de ferritina foi de 1873,6 ng/mL e ST de 78,82% e no grupo de portadores de HH-HFE, a média de ferritina sérica foi de 2676,75 ng/mL e ST 91,02%. Em se tratando de casuística com 64,8% de portadores de cirrose hepática e elevada frequência de fatores de risco para sobrecarga de ferro, tais resultados correspondem ao esperado.…”

Section: Análise Dos Marcadores Séricos De Sobrecarga De Ferrounclassified

Caracterização fenotípica e genotipagem HFE em portadores de doença hepática crônica com sobrecarga de ferro

Evangelista¹

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Ao fim deste trabalho, vem a sensação de dever cumprido e maturidade. Essa é, sem dúvida, a melhor experiência acadêmica que um aluno pode experimentar. Esse tema foi escolhido a partir de uma simples observação dos pacientes com hepatopatia crônica e sobrecarga de ferro no ambulatório, quando ainda residente de Gastroenterologia. O estudo com os portadores dessa condição foi o final, após pesquisa, dedicação, aproximação com os pacientes e incentivo de professores e amigos muito queridos que felizmente tive a felicidade de poder contar com o apoio nesses anos de caminhada. Essa é a melhor oportunidade para expressar os meus agradecimentos. À Dra. Marta Deguti, a primeira referência nesse assunto. Grande mestre, se hoje eu escrevi e finalizei esse trabalho foi graças à sua dedicação e paciência em debater extensivamente sobre o assunto, escrever em quatro mãos capítulos de livros, textos de revisão, aulas sobre o tema, trabalhos para congresso, apresentar pacientes com sobrecarga de ferro e hemocromatose hereditária e, por fim, à confiança em transferir um projeto originalmente seu para que eu pudesse conquistar esse título. Agora estou pronta para a vida acadêmica. Graças a você. Ao Dr. Eduardo Cançado, exemplo de médico, de atenção e cuidado com o paciente, grande professor de boa prática médica. Você foi e ainda é muito importante em minha formação como hepatologista. Obrigada pela dedicação a esse trabalho, obrigada pelos ensinamentos, obrigada pela confiança. À Aline Chagas, minha grande companheira nesta jornada, quem me incentivou a seguir pela hepatologia, esteve sempre, sempre ao meu lado. Minha irmãzinha de coração (e agora comadres!!!), a minha estadia aqui em São Paulo é muito melhor porque tenho você. À Samira Apóstolos, obrigada pela força, pelos conselhos, por estar ao meu lado. Você completa a minha família aqui em São Paulo. Aos meus amigos do ambulatório de metabólicas, Débora Terrabuio, Fabrício Guimarães, Michele Harriz. Obrigada pelo companheirismo, pelos ensinamentos, por fazerem parte desta caminhada. Aos meus amigos do laboratório LIM

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Iron Binding Saturation and Genotypic Testing for Hereditary Hemochromatosis in Patients With Liver Disease

Cited by 5 publications

References 18 publications

EASL clinical practice guidelines for HFE hemochromatosis

EASL clinical practice guidelines for HFE hemochromatosis

Iron homeostasis and H63D mutations in alcoholics with and without liver disease

Caracterização fenotípica e genotipagem HFE em portadores de doença hepática crônica com sobrecarga de ferro

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