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hereditary hemochromatosis

Julia Elisa Cabezas Arteaga, Fatima Mendonça Jorge Vieira, Vitor Manoel Silva Dos Reis
BACKGROUND: Porphyria cutanea tarda (PCT) is the most common porphyria worldwide. The known acquired precipitating factors that induce PCT include alcoholism, hepatitis C virus infection, human immunodeficiency virus infection, and estrogen intake. Hereditary hemochromatosis is considered an inherited risk factor. The aim of this study was to describe and analyze precipitating factors and family history, with emphasis on PCT management. METHODS: A retrospective study of 87 patients with PCT was conducted between January 2002 and December 2017...
February 17, 2019: International Journal of Dermatology
Stavroula Papadodima, Ricard Masia, James R Stone
BACKGROUND: Cardiac iron overload following liver transplantation in patients without hemochromatosis but with severe hepatic iron deposition has been reported to result in heart failure and/or death in case reports and small case series. However, the frequency and causes of cardiac iron overload following liver transplantation and its relationship to cardiac dysfunction in patients without severe hepatic iron deposition are unclear. METHODS: The primary inclusion criteria for this study were liver transplantation followed by autopsy or cardiac transplantation within 1 year...
January 3, 2019: Cardiovascular Pathology: the Official Journal of the Society for Cardiovascular Pathology
Jennifer-Christin Müller, Maximilian Horstmann, Lisa Traeger, Andrea U Steinbicker, Michael Sperling, Uwe Karst
Hereditary hemochromatosis is the most common autosomal recessive genetic disorder of the iron metabolism. Iron accumulation in various organs, especially in liver and pancreas leads to diseases and may cause organ failure. In this study, methods for elemental bioimaging by means of quantitative micro X-ray fluorescence analysis (μXRF) and laser ablation-inductively coupled plasma-triple quadrupole mass spectrometry (LA-ICP-TQMS) were developed and applied to investigate the pathophysiological development of iron accumulation in murine tissue based on animals with an iron-overload phenotype caused by a hepatocyte-specific genetic mutation...
March 2019: Journal of Trace Elements in Medicine and Biology
Xiaoyu Wang, Mingzhen Zhang, Shireen R L Flores, Regina R Woloshun, Chunhua Yang, Liangjie Yin, Ping Xiang, Xiaodong Xu, Michael D Garrick, Sadasivan Vidyasagar, Didier Merlin, James F Collins
Nanoparticles (NPs) have been utilized to deliver drugs to the intestinal epithelium in vivo. Moreover, NPs derived from edible plants are less toxic than synthetic NPs. Here, we utilized ginger NP-derived lipid vectors (GDLVs) in a proof-of-concept investigation to test the hypothesis that inhibiting expression of divalent metal-ion transporter 1 (Dmt1) would attenuate iron loading in a mouse model of hereditary hemochromatosis (HH). Initial experiments using duodenal epithelial organ cultures from intestine-specific Dmt1 knockout (KO) (Dmt1int/int ) mice in the Ussing chamber established that Dmt1 is the only active iron importer during iron-deficiency anemia...
January 12, 2019: Molecular Therapy: the Journal of the American Society of Gene Therapy
N B Voloshinа, M F Osipenko, N V Litvinova, A N Voloshin
The iron overload syndrome can be associated with various acquired states and hereditary factors. Hereditary hemochromatosis is the most common genetic disorder. Without therapeutic intervention the disease can lead to the development of life-threatening complications such as cirrhosis, hepatocellular carcinoma. The article presents data on pathogenesis, diagnosis and treatment of hereditary hemochromatosis. Own clinical observation is given.
April 19, 2018: Terapevticheskiĭ Arkhiv
Z Y He, H You, X Y Zhao
Inherited metabolic liver disease is a kind of metabolic disorders caused by the interactions between host and environmental factors because of genetic defects. The incidence of inherited metabolic liver disease is low and its clinical manifestations are complex and diverse, which initiates difficulties in clinical diagnosis. In addition, hereditary hemochromatosis and Wilson's disease are common types of metabolic abnormalities, often seem in clinical practice, and early diagnosis and treatment can improve the prognosis...
December 20, 2018: Zhonghua Gan Zang Bing za Zhi, Zhonghua Ganzangbing Zazhi, Chinese Journal of Hepatology
Jone Tamosauskaite, Janice L Atkins, Luke C Pilling, Chia-Ling Kuo, George A Kuchel, Luigi Ferrucci, David Melzer
Background: Iron is essential for life but contributes to oxidative damage. In Northern-European ancestry populations, HFE gene C282Y mutations are relatively common (0.3%-0.6% rare homozygote prevalence) and associated with excessive iron absorption, fatigue, diabetes, arthritis, and liver disease, especially in men. Iron excess can be prevented or treated but diagnosis is often delayed or missed. Data on sarcopenia, pain, and frailty are scarce. Methods: Using 200,975 UK Biobank volunteers aged 60-70 years, we tested associations between C282Y homozygosity with Fried frailty, sarcopenia, and chronic pain using logistic regression adjusted for age and technical genetic covariates...
January 16, 2019: Journals of Gerontology. Series A, Biological Sciences and Medical Sciences
Sarah Allegra, Jessica Cusato, Silvia De Francia, Filomena Longo, Elisa Pirro, Davide Massano, Valeria Avataneo, Amedeo De Nicolò, Antonio Piga, Antonio D'Avolio
Monitoring and treating iron overload is crucial in transfusion-dependent thalassaemia patients. Liver stiffness measurement by transient elastography and T2* magnetic resonance imaging represent non-invasive ways to evaluate the adequacy of the iron chelation treatment. We explored the role of single nucleotide polymorphisms involved in vitamin D metabolism, transport and activity, and in deferasirox metabolism on liver iron burden parameters. One-hundred and five beta-thalassaemia patients, treated with deferasirox, have been enrolled...
January 17, 2019: Pharmacogenomics Journal
Mayur Brahmania, Eberhard L Renner, Carla S Coffin, Eric M Yoshida, Phil Wong, Marilyn Zeman, Hemant Shah
INTRODUCTION AND AIM: The prevalence and incidence of chronic liver disease is increasing resulting in substantial direct and indirect medical costs. Overuse of investigations, treatments and procedures contribute to rising health care costs and can expose patients to unnecessary harm and delay in receiving care. The Choosing Wisely Canada (CWC) campaign has encouraged profesional societies to develop statements that are directly actionable by their members in an effort to promote higher-value health care that will lead to downstream effect on how other practitioners make decisions...
December 13, 2018: Annals of Hepatology
Sven Kurbel
Cystic fibrosis, hereditary hemochromatosis and palmar fibromatosis are often described as "Celtic", based on their contemporary prevalence. The former two are among genetically defined disorders that seem to provide survival advantages to heterozygote individuals, while severe health problems happen in homozygote mutation carriers. Although palmar fibromatosis has no defined mutations, its prevalence has been linked to the prevalence of Y-Chromosome Haplogroup I that expanded after the Last Ice Age, thus making th distribution of all three "Celtic" diseases dependent on the global climate from 40 to 8 Kya...
January 2019: Medical Hypotheses
Hiroshi Saito
Red cell radio-iron utilization (RCU) exceeds the ratio red cell iron per whole-body iron due to the extra red cell fixation of radio-iron refluxed from tissue. The extra red cell radio-iron fixation reduces the radio-iron distribution to non-erythron tissue. Affected by RCU, the red cell iron turnover rate (RCIT) becomes larger than the net red cell iron turnover rate, which is indicated by the red cell iron renewal rate (RCIR). To clarify the influences of such biased radio-iron distributions, the values assayed by ferrokinetics were compared with those assayed by the methods other than ferrokinetics...
November 2018: Nagoya Journal of Medical Science
Julio C Mantilla-Hernández, Julián Amaya-Mujica
Hereditary hemochromatosis (HH) includes various disorders in iron metabolism producing iron deposits in several organs. HH is classified according to the HFE gene mutation. HH type I is characterized by HFE gene mutation, while types II, III and IV are due to other conditions. Juvenile hemochromatosis (JH) is related to hemojuvelin mutation, which is a regulatory peptide of the hepcidin protein, which regulates iron absorption. We report a case of JH and offer a concise review of the literature. A 14-year-old girl, with no secondary sexual characteristics, presented with abdominal pain, cough and dyspnoea...
January 2019: Revista Española de Patología
Philipp Kim, Sabine Weiskirchen, Ricarda Uerlings, Astrid Kueppers, Florian Stellmacher, André Viveiros, Heinz Zoller, Ralf Weiskirchen
BACKGROUND: Hereditary hemochromatosis is the most frequent, identified, genetic disorder in Caucasians affecting about 1 in 1000 people of Northern European ancestry, where the associated genetic defect (homozygosity for the p.Cys282Tyr polymorphism in the HFE gene) has a prevalence of approximately 1:200. The disorder is characterized by excess iron stores in the body. Due to the incomplete disease penetrance of disease-associated genotype, genetic testing and accurate quantification of hepatic iron content by histological grading of stainable iron, quantitative chemical determination of iron, or imaging procedures are important in the evaluation and staging of hereditary hemochromatosis...
December 4, 2018: BMC Medical Imaging
Haoyang Song, Shuping Zhang, Xia Sun, Jing Liu, Yakun Wu, Wenli Guo, Fudi Wang, Xiaojuan Ou, Min Cong, Erhu Jin, Wenyong Li, Sijin Liu
Determination of iron accumulation is crucial in diagnosing the occurrence and progression of many liver- and iron-related diseases. Thus far, little is known about the profiles of iron deposition in different liver zones, particularly under conditions with disordered iron homeostasis. Here, uneven iron distribution in livers of patients with hereditary hemochromatosis (HH) is uncovered, showing the region with the highest iron concentration near the entrance site of the portal vein and hepatic artery in contrast to the sites with the lowest iron concentration close to the distal edge...
November 2018: Advanced Science (Weinheim, Baden-Wurttemberg, Germany)
Angeliki Katsarou, Kostas Pantopoulos
Hepcidin is a key hormonal regulator of systemic iron homeostasis and its expression is induced by iron or inflammatory stimuli. Genetic defects in iron signaling to hepcidin lead to "hepcidinopathies" ranging from hereditary hemochromatosis to iron-refractory iron deficiency anemia, which are disorders caused by hepcidin deficiency or excess, respectively. Moreover, dysregulation of hepcidin is a pathogenic cofactor in iron-loading anemias with ineffective erythropoiesis and in anemia of inflammation...
November 21, 2018: Pharmaceuticals
Márcio Simão, António Camacho, Agnès Ostertag, Martine Cohen-Solal, I Jorge Pinto, Graça Porto, Ea Hang Korng, M Leonor Cancela
Osteoporosis is associated with chronic iron overload secondary to hereditary hemochromatosis (HH), but the causative mechanisms are incompletely understood. The main objective of this study was to investigate the role of dietary iron on osteoporosis, using as biological model the Hfe-KO mice, which have a systemic iron overload. We showed that these mice show an increased susceptibility for developing a bone loss phenotype compared to WT mice, which can be exacerbated by an iron rich diet. The dietary iron overload caused an increase in inflammation and iron incorporation within the trabecular bone in both WT and Hfe-KO mice...
2018: PloS One
Chia-Yu Wang, Jodie L Babitt
The liver orchestrates systemic iron balance by producing and secreting hepcidin. Known as the iron hormone, hepcidin induces degradation of the iron exporter ferroportin to control iron entry into the bloodstream from dietary sources, iron recycling macrophages, and body stores. Under physiologic conditions, hepcidin production is reduced by iron deficiency and erythropoietic drive to increase the iron supply when needed to support red blood cell production and other essential functions. Conversely, hepcidin production is induced by iron loading and inflammation to prevent the toxicity of iron excess and limit its availability to pathogens...
November 6, 2018: Blood
Xingzhi Jing, Ting Du, Kun Chen, Jiachao Guo, Wei Xiang, Xudong Yao, Kai Sun, Yaping Ye, Fengjing Guo
Iron overload is common in patients with diseases such as hemoglobinopathies, hereditary hemochromatosis or elderly men and postmenopausal women. This disorder is frequently associated with bone loss and recently has been considered as an independent risk factor for osteoporosis. By excess reactive oxygen species (ROS) production through Fenton reaction, iron could induce osteoblast apoptosis, inhibit osteoblast osteogenic differentiation. Moreover, Iron could also promote osteoclasts differentiation and bone absorption...
November 1, 2018: Journal of Cellular Physiology
Edward Botsford, Jayan George, Ellen E Buckley
Metal storage disorders (MSDs) are a set of rare inherited conditions with variable clinical pictures including neurological dysfunction. The objective of this study was, through a systematic review, to identify the prevalence of Parkinsonism in patients with MSDs in order to uncover novel pathways implemented in Parkinson's disease. Human studies describing patients of any age with an MSD diagnosis were analysed. Foreign language publications as well as animal and cellular studies were excluded. Searches were conducted through PubMed and Ovid between April and September 2018...
October 31, 2018: Brain Sciences
Antonella Roetto, Mariarosa Mezzanotte, Rosa Maria Pellegrino
Iron homeostasis is a tightly regulated process in all living organisms because this metal is essential for cellular metabolism, but could be extremely toxic when present in excess. In mammals, there is a complex pathway devoted to iron regulation, whose key protein is hepcidin (Hepc), which is a powerful iron absorption inhibitor mainly produced by the liver. Transferrin receptor 2 (Tfr2) is one of the hepcidin regulators, and mutations in TFR2 gene are responsible for type 3 hereditary hemochromatosis (HFE3), a genetically heterogeneous disease characterized by systemic iron overload...
October 23, 2018: Pharmaceuticals
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