932 results match your criteria Hemochromatosis Imaging


Iron overload disorders.

Hepatol Commun 2022 Jun 14. Epub 2022 Jun 14.

Liver Institute Northwest and Elson S. Floyd College of Medicine, Washington State University, Washington, USA.

Iron overload disorders represent a variety of conditions that lead to increased total body iron stores and resultant end-organ damage. An elevated ferritin and transferrin-iron saturation can be commonly encountered in the evaluation of elevated liver enzymes. Confirmatory homeostatic iron regulator (HFE) genetic testing for C282Y and H63D, mutations most encountered in hereditary hemochromatosis, should be pursued in evaluation of hyperferritinemia. Read More

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Report of a Rare Case of Beta-Thalassemia Major With Subperiosteal Hematomas.

Cureus 2022 Apr 2;14(4):e23770. Epub 2022 Apr 2.

Surgery Department, Hamad Medical Corporation, Doha, QAT.

Beta-thalassemia represents a range of hemoglobinopathies that are a consequence of an impairment in the synthesis of beta-globin chains. They result in different degrees of hemolysis and ineffective erythropoiesis, depending on the underlying mutations. They can lead to severe complications mainly resulting from anemia. Read More

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Cardiac Magnetic Resonance at 3.0 T in Patients With C282Y Homozygous Hereditary Hemochromatosis: Superiority of Radial and Circumferential Strain Over Cardiac T2* Measurements at Baseline and at Post Venesection Follow-up.

J Thorac Imaging 2022 Apr 18. Epub 2022 Apr 18.

Institute of Cardiovascular Science, St James Hospital.

Background: Iron-overload cardiomyopathy initially manifests with diastolic dysfunction and can progress to dilated cardiomyopathy if untreated. Previous studies have shown that patients with primary and secondary hemochromatosis can have subclinical left ventricle dysfunction with abnormalities on strain imaging. This study aimed to evaluate the relationship between cardiac T2* values and myocardial-wall strain in patients with hereditary hemochromatosis (HH) at the time of diagnosis and after a course of venesection treatment. Read More

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Liver iron quantification in children and young adults: comparison of a volumetric multi-echo 3-D Dixon sequence with conventional 2-D T2* relaxometry.

Pediatr Radiol 2022 Apr 6. Epub 2022 Apr 6.

Department of Radiology and Imaging Sciences, Emory University School of Medicine, Atlanta, GA, USA.

Background: Magnetic resonance imaging (MRI)-based liver iron quantification is the standard of care to guide chelation therapy in children at risk of hemochromatosis. T2* relaxometry is the most widely used technique but requires third-party software for post-processing. Vendor-provided three-dimensional (3-D) multi-echo Dixon techniques are now available that allow inline/automated post-processing. Read More

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MRI as a Aiagnostic Tool for Paroxysmal Nocturnal Hemoglobinuria: A Case Report.

Sisli Etfal Hastan Tip Bul 2021 29;55(4):565-568. Epub 2021 Dec 29.

Department of Radiology, University of Health Sciences Turkey, Sisli Hamidiye Etfal Training and Research Hospital, İstanbul, Turkey.

Paroxysmal nocturnal hemoglobinuria (PNH) is a type of hematopoietic stem cell disease and the clinical manifestation of the disease is mainly a combination of anemia and thrombosis. Intravascular hemolysis in PNH leads to hemosiderosis in renal cortex as a rare pattern of hemochromatosis. With this case presentation, we aim to show the radiological findings of this disease. Read More

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December 2021

Iron in Porphyrias: Friend or Foe?

Diagnostics (Basel) 2022 Jan 21;12(2). Epub 2022 Jan 21.

Internal Medicine and Centre for Hemochromatosis and Heredometabolic Liver Diseases, ERN-EuroBloodNet Center for Iron Disorders, Azienda Ospedaliero-Universitaria di Modena-Policlinico, 41124 Modena, Italy.

Iron is a trace element that is important for many vital processes, including oxygen transport, oxidative metabolism, cellular proliferation, and catalytic reactions. Iron supports these functions mainly as part of the heme molecule. Heme synthesis is an eight-step process which, when defective at the level of one of the eight enzymes involved, can cause the development of a group of diseases, either inherited or acquired, called porphyrias. Read More

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January 2022

[Cardiac imaging in infiltrative cardiomyopathies. What cardiovascular imaging modalities to propose in hypertrophic cardiomyopathies ?]

Ann Cardiol Angeiol (Paris) 2022 Apr 17;71(2):63-74. Epub 2022 Feb 17.

CHU Henri Mondor, 1 Rue Gustave Eiffel, 94000 Créteil. Electronic address:

Infiltrative cardiomyopathies are abnormal accumulations or depositions of different substances in cardiac tissue leading to its dysfunction, first diastolic, then systolic. The different infiltrative cardiomyopathies are amyloidosis (both light chain amyloidosis and transthyretin amyloidosis variants), lysosomal and glycogen storage disorders (Fabry-Anderson disease), and iron overload (hemochromatosis and thalassemia associated with blood transfusions), as well as inflammatory diseases such as sarcoidosis. We also evoke hypereosinophilic syndrome associated with endomyocardial fibrosis. Read More

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Bortezomib-Induced Perimyocarditis in a Multiple Myeloma Patient: A Case Report.

Case Rep Oncol 2021 Sep-Dec;14(3):1853-1859. Epub 2021 Dec 30.

Department of Internal Medicine, Vanderbilt University, Nashville, Tennessee, USA.

Bortezomib (BTZ) is a proteasome inhibitor used in the treatment of multiple myeloma (MM) and other hematological malignancies. Although carfilzomib, a second-generation proteasome inhibitor, is most strongly associated with cardiotoxicity, BTZ has been associated with several cardiovascular complications including congestive heart failure, arrhythmias, and rarely myocarditis. Here, we report the first case of a BTZ-induced perimyocarditis. Read More

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December 2021

Hereditary haemochromatosis presenting to rheumatology clinic as inflammatory arthritis.

BMJ Case Rep 2022 Jan 17;15(1). Epub 2022 Jan 17.

The Kellgren Centre for Rheumatology, Manchester University NHS Foundation Trust, Manchester, UK.

Hereditary haemochromatosis (HH) is the most commonly identified genetic disorder in Caucasians. HH has a wide variety of clinical manifestations. As such, the presenting complaint in new diagnoses of HH can be non-specific such as fatigue; however, joint symptoms such as arthralgia are also common. Read More

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January 2022

Gestational alloimmune liver disease treated with exchange transfusion and intravenous immunoglobulin: A case study.

Transfus Apher Sci 2022 Jun 22;61(3):103347. Epub 2021 Dec 22.

Department of Pediatrics, Soonchunhyang University Bucheon Hospital, Soonchunhyang University School of Medicine, Bucheon, South Korea. Electronic address:

Gestational alloimmune liver disease (GALD) is a materno-fetal alloimmune disorder that targets the fetal liver and often causes neonatal liver failure. GALD most commonly presents as neonatal hemochromatosis (NH), which is a severe neonatal liver injury confirmed by extra-hepatic iron accumulation at various sites. With the discovery of the alloimmune mechanism of GALD, exchange transfusion and intravenous immunoglobulin (IVIG) administration are being used as novel treatments. Read More

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Brain iron deposition and movement disorders in hereditary haemochromatosis without liver failure: A cross-sectional study.

Eur J Neurol 2022 05 14;29(5):1417-1426. Epub 2022 Jan 14.

Department of Clinical Neurological Sciences, London Health Sciences Centre, Western University, London, Ontario, Canada.

Background And Purpose: Hereditary haemochromatosis (HH) is the most common inherited disorder of systemic iron excess in Northern Europeans. Emerging evidence indicates that brain iron overload occurs in HH. Despite this observation, there is a paucity of literature regarding central neurological manifestations, in particular movement disorders, in HH. Read More

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Iron, Copper, and Zinc Homeostasis: Physiology, Physiopathology, and Nanomediated Applications.

Nanomaterials (Basel) 2021 Nov 4;11(11). Epub 2021 Nov 4.

Physiology Department, "Iuliu Hatieganu" University of Medicine and Pharmacy, 400000 Cluj-Napoca, Romania.

Understanding of how the human organism functions has preoccupied researchers in medicine for a very long time. While most of the mechanisms are well understood and detailed thoroughly, medicine has yet much to discover. Iron (Fe), Copper (Cu), and Zinc (Zn) are elements on which organisms, ranging from simple bacteria all the way to complex ones such as mammals, rely on these divalent ions. Read More

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November 2021

The Evaluation of Iron Deficiency and Iron Overload

Dtsch Arztebl Int 2021 12;118(49):847-856

Department of Haematology, Oncology and Clinical Immunology, Düsseldorf University Hospital; Department of Pediatric Oncology, Hematology, and Immunology, Hopp Children's Cancer Center Heidelberg (KiTZ), Heidelberg University Hospital Molecular Medicine Partnership Unit, European Molecular Biology Laboratory, Heidelberg, Translational Lung Research Center Heidelberg, German Center for Lung Research, Heidelberg, German Center for Cardiovascular Diseases, Partner Heidelberg; Department of Pediatric Oncology, Hematology, and Immunology, Hopp Children's Cancer Center Heidelberg (KiTZ), Heidelberg University Hospital; III. Department of Hematology and Oncology, University Hospital Mannheim.

Background: In the western world, 10-15% of women of child-bearing age suffer from iron-deficiency anemia. Iron overload due to chronic treatment with blood transfusions or hereditary hemochromatosis is much rarer.

Methods: This review is based on pertinent publications retrieved by a selective search on the pathophysiology, clinical features, and diagnostic evaluation of iron deficiency and iron overload. Read More

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December 2021

Double Whammy: A Case of Concurrent Alcohol Use and Hereditary Hemochromatosis Leading to Avascular Necrosis of the Femur.

Cureus 2021 Sep 17;13(9):e18067. Epub 2021 Sep 17.

Family Medicine, Southern Illinois University School of Medicine, Springfield, USA.

Avascular necrosis (AVN) of the femur is due to damage to the vasculature of the bone and can include a multitude of causes including medications, alcohol intake, hemoglobinopathies, thrombophilias, and connective tissue disorders, among others. Hereditary hemochromatosis is not a common cause of AVN but should be considered prior to labeling such cases as idiopathic. If a patient has symptoms of persistent hip pain and plain radiography has been unremarkable, one should proceed with magnetic resonance imaging (MRI) of the affected joint due to its sensitivity in detecting osteonecrosis. Read More

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September 2021

The Role of the Trabecular Bone Score in the Assessment of Osteoarticular Disorders in Patients with -Hemochromatosis: A Single-Center Study from Poland.

Genes (Basel) 2021 08 25;12(9). Epub 2021 Aug 25.

Department of Endocrinology and Internal Medicine, Medical University of Gdansk, 80-210 Gdansk, Poland.

Type 1 hereditary hemochromatosis (HH) is an autosomal, recessive genetic entity with systemic iron overload. Iron homeostasis disorders develop as a result of gene mutations, which are associated with hepcidin arthropathy or osteoporosis and may cause permanent disability in HH patients despite a properly conducted treatment with phlebotomies. In this study, selected parameters of calcium and phosphate metabolism were analyzed in combination with the assessment of bone mineral density (BMD) disorders in patients from northern Poland with clinically overt -HH. Read More

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Incidence of Symptomatic Arrhythmias and Utilization of Arrhythmia Testing in 10-year Follow up of Cardiac Asymptomatic Hereditary Hemochromatosis Subjects.

Am J Cardiol 2021 10 16;157:153-154. Epub 2021 Aug 16.

Cardiovascular Branch, National Heart, Lung, and Bood Institute, National Institues of Health, Bethesda, Maryland.

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October 2021

Non-invasive diagnosis and follow-up of hyperferritinaemia.

Clin Res Hepatol Gastroenterol 2022 01 29;46(1):101762. Epub 2021 Jul 29.

Service d'hépatologie, Hôpital Rangueil, CHU Toulouse, Toulouse, France.

Increased serum ferritin is a very frequent cause of referral for which thorough evaluation is required to avoid unnecessary exploration and inaccurate diagnosis. Clinicians must thus know factors and tools that are relevant in this setting. Several biochemical and radiological tools drastically improved the diagnosis work-up of increased serum ferritin. Read More

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January 2022

Hemocromatosis secundaria.

Arch Cardiol Mex 2021 ;91(3):373-374

Servicio de Ecocardiografía Clínica. Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Ciudad de México, México.

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February 2022

Contributions of HFE polymorphisms to brain and blood iron load, and their links to cognitive and motor function in healthy adults.

Neuropsychopharmacol Rep 2021 09 21;41(3):393-404. Epub 2021 Jul 21.

Department of Neurobiology, Care Sciences and Society, Aging Research Center, Karolinska Institutet and Stockholm University, Stockholm, Sweden.

Background: Brain iron overload is linked to brain deterioration, and cognitive and motor impairment in neurodegenerative disorders and normal aging. Mutations in the HFE gene are associated with iron dyshomeostasis and are risk factors for peripheral iron overload. However, links to brain iron load and cognition are less consistent and data are scarce. Read More

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September 2021

Utility and limitations of Hepascore and transient elastography to detect advanced hepatic fibrosis in HFE hemochromatosis.

Sci Rep 2021 07 19;11(1):14654. Epub 2021 Jul 19.

Bruce Lefroy Centre, Murdoch Children's Research Institute, Melbourne, VIC, Australia.

Aspartate aminotransferase-to-platelet ratio index (APRI) and Fibrosis-4 Index (Fib4) have been validated against liver biopsy for detecting advanced hepatic fibrosis in HFE hemochromatosis. We determined the diagnostic utility for advanced hepatic fibrosis of Hepascore and transient elastography compared with APRI and Fib4 in 134 newly diagnosed HFE hemochromatosis subjects with serum ferritin levels > 300 µg/L using area under the receiver operator characteristic curve (AUROC) analysis and APRI- (> 0.44) or Fib4- (> 1. Read More

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Hemochromatoses.

J Hepatol 2021 09 11;75(3):723-724. Epub 2021 Jul 11.

Inserm, University of Rennes1, UMR 1241, Inrae, NuMeCan Institute, Rennes, France. Electronic address:

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September 2021

Efficacy of Intravenous Immunoglobulin/Exchange Transfusion Therapy on Gestational Alloimmune Liver Disease.

Front Pediatr 2021 21;9:680730. Epub 2021 Jun 21.

Division of Pediatric Gastroenterology, Department of Pediatrics, Chang Gung Memorial Hospital, Linkou Branch and Chang Gung University College of Medicine, Taoyuan, Taiwan.

Gestational alloimmune liver disease (GALD) is a rare but critical cause of neonatal liver failure. After discovering the maternal-fetal alloimmune mechanism, intravenous immunoglobulin (IVIG) with or without exchange transfusion (ET) has gradually replaced antioxidant cocktails as the first-line therapy. Whether such therapy changes the outcome of neonates with GALD is yet to be defined. Read More

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Analysis of The Left Atrial Function Using Two-Dimensional Strain in Patients with Recent Diagnosis of Hereditary Hemochromatosis.

Curr Probl Cardiol 2022 May 28;47(5):100903. Epub 2021 May 28.

Cardiology Division. Hospital de Clínicas José de San Martín, University of Buenos Aires, Argentine.

Hereditary Hemochromatosis (HH) is a genetic condition associated with a systemic iron overload. Heart failure is an important cause of mortality. It has been demonstrated early stages of systolic and diastolic left ventricular dysfunction in previous studies. Read More

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Pancreas in Hereditary Syndromes: Cross-sectional Imaging Spectrum.

Radiographics 2021 Jul-Aug;41(4):1082-1102. Epub 2021 Jun 18.

From the Departments of Radiology (V.S.K., S.B., H.R.) and Pathology (A.N.), University of Texas Health at San Antonio, 7703 Floyd Curl Dr, San Antonio, TX 78229; Department of Radiology, Le Bonheur Children's Hospital, Memphis, Tenn (J.N.S.); Department of Radiology, University of Texas M. D. Anderson Cancer Center, Houston, Tex (A.C.M., S.R.P.); Department of Radiology, University of Wisconsin, Madison, Wis (M.G.L.); Department of Radiology, University of Pittsburgh Medical Center, Pittsburgh, Pa (A.D.); and Department of Radiology, Mayo Clinic, Scottsdale, Ariz (C.O.M.).

A wide spectrum of hereditary syndromes predispose patients to distinct pancreatic abnormalities, including cystic lesions, recurrent pancreatitis, ductal adenocarcinoma, nonductal neoplasms, and parenchymal iron deposition. While pancreatic exocrine insufficiency and recurrent pancreatitis are common manifestations in cystic fibrosis and hereditary pancreatitis, pancreatic cysts are seen in von Hippel-Lindau disease, cystic fibrosis, autosomal dominant polycystic kidney disease, and McCune-Albright syndrome. Ductal adenocarcinoma can be seen in many syndromes, including Peutz-Jeghers syndrome, familial atypical multiple mole melanoma syndrome, Lynch syndrome, hereditary breast and ovarian cancer syndrome, Li-Fraumeni syndrome, and familial pancreatic cancer syndrome. Read More

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November 2021

Whole-body R2∗ mapping to quantify tissue iron in iron storage organs: reference values and a genotype.

Clin Radiol 2021 11 10;76(11):863.e11-863.e17. Epub 2021 Jun 10.

Institute of Diagnostic Radiology and Neuroradiology, University Medicine Greifswald, Greifswald, Germany; Institute and Policlinic for Diagnostic and Interventional Radiology, University Hospital, Carl Gustav Carus University, TU Dresden, Dresden, Germany. Electronic address:

Aim: To define reference values for the transverse relaxation rate (R2∗) in iron storage organs and to investigate the role of human haemochromatosis protein (HFE) genotype on iron storage.

Materials And Methods: Whole-body magnetic resonance imaging (MRI) including a five-echo gradient-echo sequence was performed in 483 volunteers (269 men, mean age 59.3 ± 12. Read More

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November 2021

Iron metabolism: pathophysiology and pharmacology.

Trends Pharmacol Sci 2021 08 2;42(8):640-656. Epub 2021 Jun 2.

Department of Nanomedicine and Theranostics, Institute for Experimental Molecular Imaging, RWTH University Hospital Aachen, Aachen 52074, Germany. Electronic address:

Iron is essential in many physiological processes, including DNA metabolism, oxygen transport, and cellular energy generation. Deregulated iron metabolism, which results in iron overload or iron deficiency, is observed in many different diseases. We here summarize recent progress in the pathophysiology and pharmacology of iron-overload diseases, such as hereditary hemochromatosis, as well as iron-deficiency disorders, which are typically associated with anemia. Read More

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Haemochromatosis in a kidney transplant recipient: a case report.

BMC Nephrol 2021 05 29;22(1):201. Epub 2021 May 29.

Department of Nephrology, Medical University of Lublin, Jaczewskiego street 8, 20-090, Lublin, Poland.

Background: Iron overload is inevitably related to chronic kidney disease (CKD) treatment. Haemochromatosis leads to multiorgan damage and is associated with increased mortality. Primary haemochromatosis is the most common autosomal recessive disease in white populations. Read More

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MRI-Based Iron Phenotyping and Patient Selection for Next-Generation Sequencing of Non-Homeostatic Iron Regulator Hemochromatosis Genes.

Hepatology 2021 11 13;74(5):2424-2435. Epub 2021 Jul 13.

Department of Medicine I and Christian Doppler Laboratory on Iron and Phosphate Biology, Medical University of Innsbruck, Innsbruck, Austria.

Background And Aims: High serum ferritin is frequent among patients with chronic liver disease and commonly associated with hepatic iron overload. Genetic causes of high liver iron include homozygosity for the p.Cys282Tyr variant in homeostatic iron regulator (HFE) and rare variants in non-HFE genes. Read More

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November 2021

Living donor liver transplantation for small infants aged less than 6 months: The experience of a single institute.

J Pediatr Surg 2021 Jul 24;56(7):1157-1161. Epub 2021 Mar 24.

Division of Transplantation Surgery, Department of Surgery, Taipei Veterans General Hospital, Taipei, Taiwan; School of Medicine, National Yang-Ming University, Taipei, Taiwan.

Purpose: Liver transplantation (LT) for small infants < 6 months old is rare but becoming common as perioperative care improves. In Taiwan, living donor LT (LDLT) has expanded indications but is rarely performed for this age group because of unfavorable outcomes in the literature. We evaluated LDLT outcomes of patients <6 months old. Read More

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