scholarly journals HFE Genotyping in Patients with Elevated Serum Iron Indices and Liver Diseases

2015 ◽  
Vol 2015 ◽  
pp. 1-8 ◽  
Author(s):  
Andreia Silva Evangelista ◽  
Maria Cristina Nakhle ◽  
Thiago Ferreira de Araújo ◽  
Clarice Pires Abrantes-Lemos ◽  
Marta Mitiko Deguti ◽  
...  
Keyword(s):  
Liver Disease ◽  
Chronic Liver Disease ◽  
Serum Iron ◽  
Genetic Diseases ◽  
Hereditary Hemochromatosis ◽  
Transferrin Saturation ◽  
Elevated Serum ◽  
Clinical Manifestations ◽  
Chronic Liver ◽  
Group 2

Iron abnormalities in chronic liver disease may be the result of genetic diseases or secondary factors. The present study aimed to identify subjects with HFE-HH in order to describe the frequency of clinical manifestations, identify risk factors for iron elevation, and compare the iron profile of HFE-HH to other genotypes in liver disease patients. A total of 108 individuals with hepatic disease, transferrin saturation (TS) > 45%, and serum ferritin (SF) > 350 ng/mL were tested for HFE mutations. Two groups were characterized: C282Y/C282Y or C282Y/H63D genotypes (n=16) were the HFE hereditary hemochromatosis (HFE-HH) group; and C282Y and H63D single heterozygotes, the H63D/H63D genotype, and wild-type were considered group 2 (n=92). Nonalcoholic liver disease, alcoholism, and chronic hepatitis C were detected more frequently in group 2, whereas arthropathy, hepatocarcinoma, diabetes, and osteoporosis rates were significantly higher in the HFE-HH group. TS > 82%, SF > 2685 ng/mL, and serum iron > 178 μg/dL were the cutoffs for diagnosis of HFE-HH in patients with liver disease. Thus, in non-Caucasian populations with chronic liver disease, HFE-HH diagnosis is more predictable in those with iron levels higher than those proposed in current guidelines for the general population.

Pathogenesis, Diagnosis and Treatment of Hemochromatosis

2016 ◽  
Vol 34 (4) ◽  
pp. 364-373 ◽  
Author(s):  
Heinz Zoller ◽  
Benjamin Henninger
Keyword(s):  
Liver Disease ◽  
Chronic Liver Disease ◽  
Transferrin Saturation ◽  
Chronic Liver ◽  
Diagnosis And Treatment ◽  
Alternative View ◽  
Hepatic Iron ◽  
Iron Storage ◽  
Non Invasive ◽  
Tissue Iron

Hemochromatosis is a common cause of chronic liver disease and HFE genotyping allows decisive and non-invasive diagnosis. Molecular and clinical genetic studies have led to the identification of genes other than HFE in patients with inherited diseases associated with increased hepatic iron storage that can cause hemochromatosis, which adds complexity to a diagnostic approach to patients with suspected hemochromatosis. Despite major advances in genetics, hepatic iron quantification by non-invasive methods therefore remains the key to the diagnosis of hemochromatosis. Although associated with homozygosity for the C282Y polymorphism in the HFE gene in >80% of patients, hemochromatosis is a complex genetic disease with strong environmental disease modifiers. Testing for mutations in the non-HFE hemochromatosis genes transferrin receptor 2, hemojuvelin, HAMP and SLC40A1 is complex, costly and time-consuming. Demonstration of hepatic iron overload by liver biopsy or MRI is therefore required before such complex tests are carried out. The pathogenesis of chronic liver disease in hemochromatosis is mainly attributed to the redox potential of tissue iron, and only the more recent studies have focused on the toxic properties of circulating iron. Considering the fact that an increased saturation of transferrin and high iron in plasma are the hallmark of all hemochromatosis forms, an alternative view would be that toxic iron in the circulation is involved in the pathogenesis of hemochromatosis. Recent studies have shown an increased concentration of redox-active iron in plasma in patients with increased transferrin saturation. This finding supports the hypothesis that tissue iron may be the ‘smoking gun' of iron-induced organ damage. Taken together, caring for patients with suspected or established hemochromatosis still remains a challenge, where understanding the genetics, biochemistry and cell biology of hemochromatosis will aid better diagnosis and treatment of affected individuals.

Hepatic Encephalopathy

2017 ◽  
Author(s):  
Allison R Schulman ◽  
Nikroo Hashemi
Keyword(s):  
Differential Diagnosis ◽  
Liver Disease ◽  
Hepatic Encephalopathy ◽  
Chronic Liver Disease ◽  
Wide Spectrum ◽  
Clinical Manifestations ◽  
Minimal Hepatic Encephalopathy ◽  
The Body ◽  
Chronic Liver ◽  
Intrahepatic Portosystemic Shunt

Hepatic encephalopathy (HE) is one of the most debilitating manifestations of acute or chronic liver disease and/or portosystemic shunting. The clinical manifestations of HE span a wide spectrum of neurologic or psychiatric abnormalities, ranging from subclinical neuropsychological disturbances to coma. HE severely affects the lives of patients and their caregivers and results in the use of more health care resources in adults than other manifestations of hepatic dysfunction. To date, there are insufficient clinical studies and standardized definitions, making the diagnosis, classification, and treatment of HE challenging. This review covers the epidemiology, pathophysiology and pathogenesis, diagnosis, differential diagnosis, treatment, and follow-up of HE. Figures show the numerous processes and mechanisms involved in the pathogenesis of HE and ammonia trafficking and metabolism within the body. Tables list the four factors that dictate categorization and grading of HE, differential diagnosis of HE, summary of testing used for minimal HE and covert HE with associated advantages and/or disadvantages, and precipitating causes of HE in patients with cirrhosis. This review contains 2 highly rendered figures, 4 tables, and 77 references. Key words: chronic liver disease; covert hepatic encephalopathy; hepatic encephalopathy; minimal hepatic encephalopathy; overt hepatic encephalopathy; transjugular intrahepatic portosystemic shunt 

scholarly journals Hemochromatosis and Xeroderma Pigmentosum: Two (Un)Suspicious Neighbors

2021 ◽  
pp. 1-7
Author(s):  
Filipa Monte ◽  
Mónica Garrido ◽  
Tiago Pereira Guedes ◽  
Joel Reis ◽  
Graça Porto ◽  
...  
Keyword(s):  
Liver Disease ◽  
Genetic Testing ◽  
Chronic Liver Disease ◽  
Xeroderma Pigmentosum ◽  
Genetic Linkage ◽  
Liver Enzymes ◽  
Genetic Test ◽  
Hereditary Hemochromatosis ◽  
Transferrin Saturation ◽  
Skin Hyperpigmentation

A 51-year-old woman, clinically diagnosed with <i>Xeroderma pigmentosum</i> (XP), showed abnormalities in liver enzymes, high ferritin and transferrin saturation levels, with ultrasonographic features of chronic liver disease, in addition to skin hyperpigmentation. Genetic testing confirmed the clinical hypothesis of hereditary hemochromatosis (HH). Due to the known proximity of HFE (6p22.2) and POLH (6p21.1) genes, accountable for HH and the XP-V variant, respectively, a genetic test was offered and a rare variant of the POLH gene was identified. We report the first confirmed case, to our knowledge, of a patient diagnosed both with XP and HH, in whom two mutated neighbor genes – POLH and HFE – were identified, possibly the result of genetic linkage.

scholarly journals Selenium, glutathione and glutathione peroxidases in blood of patients with chronic liver diseases.

2003 ◽  
Vol 50 (4) ◽  
pp. 1147-1154 ◽  
Author(s):  
Jolanta Czuczejko ◽  
Bronisław A Zachara ◽  
Ewa Staubach-Topczewska ◽  
Waldemar Halota ◽  
Józef Kedziora
Keyword(s):  
Liver Disease ◽  
Glutathione Peroxidase ◽  
Chronic Liver Disease ◽  
Peroxidase Activity ◽  
Chronic Liver ◽  
Red Cell ◽  
Glutathione Peroxidase Activity ◽  
Group 2 ◽  
Cryptogenic Chronic Liver Disease ◽  
Group 1

Disturbances in the antioxidant system could play a role in pathogenesis of chronic liver disease. The aim of our study was to evaluate the levels/activities of antioxidants in blood of patients with chronic liver disease. We estimated selenium and glutathione concentrations and glutathione peroxidase activities in blood of 59 patients with chronic hepatitis B or C virus infection (group 1) and 64 patients with alcoholic, autoimmune or cryptogenic chronic liver disease (group 2). The results were compared with 50 healthy controls. Whole blood and plasma selenium and red cell glutathione concentrations were significantly lower in the patients compared with the controls. Red cell glutathione peroxidase activity was slightly reduced in both subgroups of group 1 and in group 2 with normal alanine aminotransferase values. Plasma glutathione peroxidase activity was slightly but significantly higher in patients with elevated aminotransferase values. The findings suggest that disturbances in antioxidant parameters in blood of patients with chronic liver disease may be the cause of the peroxidative damage of cells.

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