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Iron overload syndrome

Nathalie Mourad, René P Michel, Victoria A Marcus
CONTEXT.—: Despite advances in therapeutic and preventive measures, hematopoietic stem cell transplant recipients remain at risk of a variety of gastrointestinal and liver complications. OBJECTIVE.—: To detail the pathologic features of the various gastrointestinal and liver complications occurring after hematopoietic stem cell transplantation in relation to their clinical context. The specific complications covered include graft-versus-host disease, mycophenolate mofetil-induced injury, timeline of infections, neutropenic enterocolitis, gastrointestinal thrombotic microangiopathy, sinusoidal obstruction syndrome, hepatic iron overload, and the controversy around cord colitis syndrome...
March 6, 2019: Archives of Pathology & Laboratory Medicine
Jae-Hyeok Lee, Myung-Sik Lee
Recent data suggest mechanistic links among perturbed iron homeostasis, oxidative stress, and misfolded protein aggregation in neurodegenerative diseases. Iron overload and toxicity toward dopaminergic neurons have been established as playing a role in the pathogenesis of Parkinson's disease (PD). Brain iron accumulation has also been documented in atypical parkinsonian syndromes (APS), mainly comprising multiple system atrophy (MSA), and progressive supranuclear palsy (PSP). Iron-sensitive magnetic resonance imaging (MRI) has been applied to identify iron-related signal changes for the diagnosis and differentiation of these disorders...
2019: Frontiers in Neurology
Hervé Lobbes, Cécile Gladine, Andrzej Mazur, Bruno Pereira, Christian Dualé, Jean-Michel Cardot, Marc Ruivard
BACKGROUND & AIMS: Type I hereditary hemochromatosis (HH) and dysmetabolic iron overload syndrome (DIOS) are the two most prevalent iron overload diseases. Although many food components, particularly polyphenols, reduce iron bioavailability, there is no clinically validated nutritional strategy to reduce food-iron absorption in patients with these diseases. We aimed to determine whether supplementation with 100 mg of procyanidins during a meal reduces dietary iron absorption in patients with HH or DIOS...
February 11, 2019: Clinical Nutrition: Official Journal of the European Society of Parenteral and Enteral Nutrition
Kosha J Mehta, Sebastien Je Farnaud, Paul A Sharp
Liver fibrosis is characterised by excessive deposition of extracellular matrix that interrupts normal liver functionality. It is a pathological stage in several untreated chronic liver diseases such as the iron overload syndrome hereditary haemochromatosis, viral hepatitis, alcoholic liver disease, non-alcoholic fatty liver disease, non-alcoholic steatohepatitis and diabetes. Interestingly, regardless of the aetiology, iron-loading is frequently observed in chronic liver diseases. Excess iron can feed the Fenton reaction to generate unquenchable amounts of free radicals that cause grave cellular and tissue damage and thereby contribute to fibrosis...
February 7, 2019: World Journal of Gastroenterology: WJG
Lindsey Lyle, Alex Hirose
Myelodysplastic syndromes (MDS) are a heterogeneous group of hematologic neoplasms varying in severity affecting one or more lines of hematopoiesis. Ineffective erythropoiesis results in dysregulation of iron metabolism. Most MDS patients have anemia, and some require regular red blood cell transfusions. These transfusions, in addition to factors of the disease itself, can result in iron overload (IO). Retrospective analyses suggest that MDS patients with IO have reduced overall survival and poorer outcomes following allogeneic stem cell transplant vs...
May 2018: Journal of the Advanced Practitioner in Oncology
Giuseppina Camiolo, Daniele Tibullo, Cesarina Giallongo, Alessandra Romano, Nunziatina L Parrinello, Giuseppe Musumeci, Michelino Di Rosa, Nunzio Vicario, Maria V Brundo, Francesco Amenta, Margherita Ferrante, Chiara Copat, Roberto Avola, Giovanni Li Volti, Antonio Salvaggio, Francesco Di Raimondo, Giuseppe A Palumbo
Iron toxicity is associated with organ injury and has been reported in various clinical conditions, such as hemochromatosis, thalassemia major, and myelodysplastic syndromes. Therefore, iron chelation therapy represents a pivotal therapy for these patients during their lifetime. The aim of the present study was to assess the iron chelating properties of α-lipoic acid (ALA) and how such an effect impacts on iron overload mediated toxicity. Human mesenchymal stem cells (HS-5) and animals (zebrafish, n = 10 for each group) were treated for 24 h with ferric ammonium citrate (FAC, 120 µg/mL) in the presence or absence of ALA (20 µg/mL)...
January 31, 2019: International Journal of Molecular Sciences
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
L Lillo-Triguero, A Del Castillo, J Guzman de Villoria, M J Moran-Jimenez, A Guillem, R Peraita-Adrados
INTRODUCTION: The pathophysiology of restless legs syndrome (RLS) is complex. Secondary RLS with iron deficiency -which suggests disturbed iron homeostasis- remains to be elucidated. CASE REPORTS: We report the findings from a unique blood donor family with RLS. Three blood donors family members were diagnosed with RLS defined by the International RLS Study Group and without history of neurologic diseases and RLS symptoms in the last 3-5 years (range of blood donation: 10-40 years)...
February 1, 2019: Revista de Neurologia
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
Mrinal M Patnaik, Ayalew Tefferi
DISEASE OVERVIEW: Ring sideroblasts (RS) are erythroid precursors with abnormal perinuclear mitochondrial iron accumulation. Two myeloid neoplasms defined by the presence of RS, include refractory anemia with ring sideroblasts (RARS), now classified under myelodysplastic syndromes with RS (MDS-RS) and RARS with thrombocytosis (RARS-T); now called myelodysplastic/myeloproliferative neoplasm with RS and thrombocytosis (MDS/MPN-RS-T). DIAGNOSIS: MDS-RS is a lower risk MDS, with single or multilineage dysplasia (SLD/MLD), <5% bone marrow (BM) blasts and ≥15% BM RS (≥5% in the presence of SF3B1 mutations)...
January 7, 2019: American Journal of Hematology
Pierre Fenaux, Jean Jacques Kiladjian, Uwe Platzbecker
Anemia of lower risk MDS and PMF generally becomes resistant to available treatments, leading to RBC transfusions, iron overload, shortened survival and poor quality of life. The TGF-β superfamily, including activins and growth differentiation factors (GDF), is aberrantly expressed in lower risk MDS and PMF. Luspatercept (and Sotatercept), ligand traps that particularly inhibit GDF 11, lead to RBC transfusion independence in 10-50% of lower risk MDS resistant to available treatments, and have started to be used in PMF...
January 2, 2019: Blood
John B Whitfield, Gu Zhu, Pamela Af Madden, Grant W Montgomery, Andrew C Heath, Nicholas G Martin
BACKGROUND: Alcohol dependence and long-term excessive alcohol use may cause liver damage, but only some patients develop cirrhosis. Similarly, high alcohol intake without evident liver disease often but not always produces abnormal enzymatic liver function tests, particularly gamma-glutamyl transferase (GGT). We postulate that the factors predisposing to cirrhosis in alcoholics and to liver enzyme abnormality in drinkers are similar, and that biochemical liver function tests could therefore be useful as markers of risk of alcoholic liver disease in excessive drinkers...
December 27, 2018: Alcoholism, Clinical and Experimental Research
Marketa Tesarova, Alzbeta Vondrackova, Hana Stufkova, Lenka Veprekova, Viktor Stranecky, Kamila Berankova, Hana Hansikova, Martin Magner, Natalia Galoova, Tomas Honzik, Elena Vodickova, Jan Stary, Jiri Zeman
BACKGROUND: Sideroblastic anemia represents a heterogeneous group of inherited or acquired diseases with disrupted erythroblast iron utilization, ineffective erythropoiesis, and variable systemic iron overload. In a cohort of 421 patients with multisystem mitochondrial diseases, refractory anemia was found in 8 children. RESULTS: Five children had sideroblastic anemia with increased numbers of ring sideroblasts >15%. Two of the children had a fatal course of MLASA1 syndrome (mitochondrial myopathy, lactic acidosis, and sideroblastic anemia [SA]) due to a homozygous, 6-kb deletion in the PUS1 gene, part of the six-member family of pseudouridine synthases (pseudouridylases)...
April 2019: Pediatric Blood & Cancer
Rachael A Baker, Jessica R C Priestley, Amy M Wilstermann, Kalina J Reese, Paul R Mark
The most frequent cause of isolated complex III deficits is mutations to the nuclear-encoded ATPase BCS1L. Disease phenotypes are varied and can be as mild as Björnstad syndrome, characterized by pili torti and sensorineural hearing loss, or as severe as GRACILE syndrome, characterized by growth restriction, aminoaciduria, cholestasis, iron overload, lactic acidosis, and early death. BCS1L mutations are also linked to an undefined complex III deficiency, a heterogeneous condition generally involving low birth weight, renal and hepatic pathologies, hypotonia, and developmental delays...
December 24, 2018: American Journal of Medical Genetics. Part A
L F Mantovani, F P S Santos, G F Perini, C M B Nascimento, L P Silva, C K Wroclawski, B P Esposito, M S S Ribeiro, E D R P Velloso, C H Nomura, F U Kay, R H Baroni, N Hamerschlak, S Schuster
INTRODUCTION: Transfusion-dependent anemia and iron overload are associatedwith reduced survival in myelodysplastic syndrome (MDS). This cross-sectional study aimed to evaluate the prevalence of hepatic and cardiac overload in patients with MDS as measured by T2* magnetic resonance imaging (MRI), and its correlation with survival. METHODS: MDS or chronic myelomonocytic leukemia patients had iron overload evaluated by T2* MRI. HIO was considered when hepatic iron concentration ≥ 2 g/mg...
January 2019: Leukemia Research
Keiko Oda, Kan Katayama, Akiko Tanoue, Tomohiro Murata, Yumi Hirota, Shoko Mizoguchi, Yosuke Hirabayashi, Takayasu Ito, Eiji Ishikawa, Kaoru Dohi, Masaaki Ito
BACKGROUND: Although the renal toxicity of Deferasirox, an oral iron chelator, has been reported to be mild, there have been reports of acute interstitial nephritis or Fanconi syndrome due to this agent. Thin basement membrane disease (TBMD) is a hereditary disease characterized primarily by hematuria, with gross hematuria also observed in about 7% of cases. We herein report a case of TBMD that presented with acute kidney injury and gross hematuria during treatment with Deferasirox. CASE PRESENTATION: The patient was a 63-year-old man who had been diagnosed with myelodysplastic syndrome 6 years ago...
December 17, 2018: BMC Nephrology
Bor-Sheng Ko, Ming-Chih Chang, Tzeon-Jye Chiou, Te-Kau Chang, Yeu-Chin Chen, Sheng-Fung Lin, Cheng-Shyong Chang, Yin-Che Lu, Su-Peng Yeh, Tsai-Yun Chen, Wei-Shou Hwang
OBJECTIVE: Patients with myelodysplastic syndromes (MDS), aplastic anemia (AA) or other rare anemia require chronic blood transfusions which can lead to iron overload and subsequent excess iron-mediated complications. Intensive iron chelation with deferasirox could remove excess iron and can alleviate these events; however, the long-term safety and efficacy in Chinese population are not clearly characterized. This study examined the long-term efficacy and safety of deferasirox in a real-world setting in Taiwan...
December 2019: Hematology (Amsterdam, Netherlands)
Ali T Taher, Raffaella Origa, Silverio Perrotta, Alexandra Kouraklis, Giovan Battista Ruffo, Antonis Kattamis, Ai-Sim Goh, Vicky Huang, Aiesha Zia, Raquel Merino Herranz, John B Porter
BACKGROUND: Adherence to long-term chelation therapy in transfusion-dependent patients is critical to prevent iron overload-related complications. Once-daily deferasirox dispersible tablets (DT) have proven long-term efficacy and safety in patients ≥2 years old with chronic transfusional iron overload. However, barriers to optimal adherence remain, including palatability, preparation time, and requirements for fasting state. A new film-coated tablet (FCT) formulation was developed, swallowed once daily (whole/crushed) with/without a light meal...
November 19, 2018: Health and Quality of Life Outcomes
Houda Hamdi-Rozé, Zeineb Ben Ali, Martine Ropert, Lénaïck Detivaud, Samira Aggoune, Dominique Simon, Gilles Pelletier, Yves Deugnier, Véronique David, Edouard Bardou-Jacquet
Juvenile hemochromatosis is a rare autosomal recessive disease due to variants in the Hemojuvelin (HJV) gene. Although biological features mimic HFE hemochromatosis, clinical presentation is worst with massive iron overload diagnosed during childhood. Our study describes clinical features and results of genetic testing for a group of patients initially referred for a hepcidino-deficiency syndrome and for whom HJV hemochromatosis was finally diagnosed. 662 patients with iron overload and high serum transferrin saturation were tested, and five genes (HFE, HJV, HAMP, TFR2, SLC40A1) were sequenced...
October 22, 2018: Blood Cells, Molecules & Diseases
Katia Menacho, Sara Ramirez, Pedro Segura, Sabrina Nordin, Amna Abdel-Gadir, Violeta Illatopa, Anish Bhuva, Giulia Benedetti, Redha Boubertakh, Pedro Abad, Bertha Rodriguez, Felix Medina, Thomas Treibel, Mark Westwood, Juliano Fernandes, John Malcolm Walker, Harold Litt, James C Moon
Background Advanced cardiac imaging permits optimal targeting of cardiac treatment but needs to be faster, cheaper, and easier for global delivery. We aimed to pilot rapid cardiac magnetic resonance ( CMR ) with contrast in a developing nation, embedding it within clinical care along with training and mentoring. Methods and Results A cross-sectional study of CMR delivery and clinical impact assessment performed 2016-2017 in an upper middle-income country. An International partnership (clinicians in Peru and collaborators from the United Kingdom, United States, Brazil, and Colombia) developed and tested a 15-minute CMR protocol in the United Kingdom, for cardiac volumes, function and scar, and delivered it with reporting combined with training, education and mentoring in 2 centers in the capital city, Lima, Peru, 100 patients referred by local doctors from 6 centers...
September 4, 2018: Journal of the American Heart Association
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