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Eur J Heart Fail 2019 Apr 16. Epub 2019 Apr 16.

Berlin-Brandenburg Center for Regenerative Therapies, Deutsches Zentrum für Herz-Kreislauf-Forschung (DZHK) Berlin, Department of Cardiology, Campus Virchow Klinikum, Charite - Universitaetsmedizin Berlin, Berlin, Germany.

Cardiomyopathies are a heterogeneous group of heart muscle diseases and an important cause of heart failure (HF). Current knowledge on incidence, pathophysiology and natural history of HF in cardiomyopathies is limited, and distinct features of their therapeutic responses have not been systematically addressed. Therefore, this position paper focuses on epidemiology, pathophysiology, natural history and latest developments in treatment of HF in patients with dilated (DCM), hypertrophic (HCM) and restrictive (RCM) cardiomyopathies. Read More

Br J Haematol 2019 May 3;185(3):523-531. Epub 2019 Mar 3.

Dipartimento di Scienze Cliniche e Comunità, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico - Università degli studi di Milano, Milano, Italy.

Iron overload (IO) is poorly investigated in the congenital haemolytic anaemias (CHAs), a heterogeneous group of rare inherited diseases encompassing abnormalities of the erythrocyte membrane and metabolism, and defects of the erythropoiesis. In this study we systematically evaluated routine iron parameters and cardiac and hepatic magnetic resonance imaging, together with erythropoietin, hepcidin, non-transferrin bound iron (NTBI), and cytokine serum levels in patients with different CHAs. We found that 40% of patients had a liver iron concentration (LIC) >4 mg Fe/g dry weight. Read More

Cancer Med 2019 Mar 21;8(3):1054-1065. Epub 2019 Feb 21.

Hatano Red Cross Hospital, Kanagawa, Japan.

Background: It is well known that the incidence of developing hepatocelluler carcinoma (HCC) is increased in liver cirrhosis of different etiologies. However, comparison of HCC incidence in various liver diseases has not yet been estimated. We surveyed this comparison. Read More

Diabetes Metab 2019 Jan 17. Epub 2019 Jan 17.

Department of Gastroenterology, University Hospital San Cecilio, Department of Medicine, University of Granada, Spain.

Aim: The association of non-alcoholic fatty liver disease (NAFLD) with insulin resistance (IR) is well established, yet little is known of their possible relationship with intrahepatic iron and serum tumour necrosis factor (TNF)-α concentrations in adults without diabetes. Thus, this study looked at the relationship of intrahepatic iron and serum TNF-α with intrahepatic triglycerides and IR in non-diabetic adults.

Methods: In this cross-sectional study of 104 healthy non-diabetic Caucasians, a quantitative magnetic resonance (MR) imaging T2 gradient-echo technique was used to measure hepatic iron, with 1H-MR spectroscopy used to measure hepatic triglycerides. Read More

Pharmacogenomics J 2019 Jan 17. Epub 2019 Jan 17.

Department of Medical Sciences, University of Turin, Amedeo di Savoia Hospital, 10149, Turin, Italy.

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. Read More

Ann Hepatol 2018 Dec;18(1):165-171

Francis Family Liver Clinic, University of Toronto, Canada.

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. Read More

PLoS One 2018 21;13(12):e0209340. Epub 2018 Dec 21.

Research Centre for Optimal Health, School of Life Sciences, University of Westminster, London, United Kingdom.

The burden of liver disease continues to increase in the UK, with liver cirrhosis reported to be the third most common cause of premature death. Iron overload, a condition that impacts liver health, was traditionally associated with genetic disorders such as hereditary haemochromatosis, however, it is now increasingly associated with obesity, type-2 diabetes and non-alcoholic fatty liver disease. The aim of this study was to assess the prevalence of elevated levels of liver iron within the UK Biobank imaging study in a cohort of 9108 individuals. Read More

Scand J Trauma Resusc Emerg Med 2018 Dec 4;26(1):104. Epub 2018 Dec 4.

Emergency Department, Royal London Hospital, Barts Health NHS Trust, London, UK.

Background: Monitoring cardiac output (CO) in shocked patients provides key etiological information and can be used to guide fluid resuscitation to improve patient outcomes. Previously this relied on invasive monitoring, restricting its use in the Emergency Department (ED) setting. The development of non-invasive devices (such as LiDCOrapid with CNAP™ and USCOM 1A), and ultrasound based measurements (Transthoracic echocardiography, inferior vena cava collapsibility index (IVCCI), carotid artery blood flow (CABF) and carotid artery corrected flow time (FTc)) enables stroke volume (SV) and CO to be measured non-invasively in the ED. Read More

BMC Med Imaging 2018 12 4;18(1):51. Epub 2018 Dec 4.

Institute of Molecular Pathobiochemistry, Experimental Gene Therapy and Clinical Chemistry (IFMPEGKC), RWTH University Hospital Aachen, Pauwelsstr 30, D-52074, Aachen, Germany.

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. Read More

Adv Sci (Weinh) 2018 Nov 12;5(11):1800866. Epub 2018 Oct 12.

State Key Laboratory of Environmental Chemistry and Ecotoxicology Research Center for Eco-Environmental Sciences Chinese Academy of Sciences Beijing 100085 China.

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. Read More

J Gynecol Obstet Hum Reprod 2019 Jan 19;48(1):61-64. Epub 2018 Nov 19.

Fetal Medicine unit, Université Claude Bernard, Lyon 1, Hospices Civils de Lyon, Hôpital Femme Mère Enfant, 59 boulevard Pinel, 69500, Bron, Lyon, France. Electronic address:

We report prenatal imaging features of four cases of neonatal hemochromatosis due to an alloimmune disease. All cases exhibited intra uterine growth restriction (IUGR) without arguments for a vascular etiology, associated with oligohydramnios. Placental hydrops was present in 75% of cases. Read More

Intern Med 2019 Mar 19;58(5):661-665. Epub 2018 Nov 19.

Department of Gastroenterology and Medicine, Fukuoka University Faculty of Medicine, Japan.

A 70-year-old man was admitted for treatment of a single liver nodule that was detected by contrast-enhanced computed tomography. Twenty years earlier, the patient had been diagnosed with myelodysplastic syndrome-refractory anemia and secondary hemochromatosis but had not received erythrocyte transfusions. The current histological, computed tomography, and magnetic resonance imaging findings revealed hepatocellular carcinoma (HCC) and non-cirrhotic liver hemochromatosis. Read More

J Clin Ultrasound 2019 Jan 30;47(1):47-50. Epub 2018 Oct 30.

Department of Embryo-Fetopathology, Maternity and Neonatology Center, Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia.

Prenatal diagnosis of neonatal hemochromatosis (NH) is usually raised in front of fetal hepatomegaly and heterogeneous liver architecture. We describe a novel sonographic feature that may be associated with NH. Ultrasound demonstrated reticulonodular liver and distended gallbladder with multiple gallstones in a hydropic fetus. Read More

J Comput Assist Tomogr 2019 Mar/Apr;43(2):165-175

Department of Radiology, The University of Texas MD Anderson Cancer Center, Houston, TX.

A multitude of pathologic entities involve abnormal iron deposition in the abdomen. These lesions demonstrate decreased signal on longer magnetic resonance sequences with longer echo time due to T2* effect. Dual-echo gradient-echo sequences demonstrate increased susceptibility artifact with longer echo sequences. Read More

Echocardiography 2018 11 25;35(11):1772-1781. Epub 2018 Sep 25.

II Department of Cardiology and Electrotherapy, Medical University of Gdansk, Gdansk, Poland.

Background: Hereditary haemochromatosis (HH) is a common inherited disease. Abnormally increased intestinal iron absorption and accelerated recycling of iron by macrophages lead to progressive body iron accumulation and the generation of oxidative stress. In the late stages, iron overload can lead to dysfunction of the left ventricle (LV). Read More

J Gen Intern Med 2018 Dec 17;33(12):2230-2236. Epub 2018 Sep 17.

Department of Hematology/Oncology, Mayo Clinic, Jacksonville, FL, USA.

Iron overload disorders lead to excess iron deposition in the body, which can occur as a result of genetic or secondary causes. Genetic iron overload, referred to as hereditary hemochromatosis, may present as a common autosomal recessive mutation or as one of several uncommon mutations. Secondary iron overload may result from frequent blood transfusions, exogenous iron intake, or certain hematological diseases such as dyserythropoietic syndrome or chronic hemolytic anemia. Read More

J Pediatr Hematol Oncol 2018 Aug 20. Epub 2018 Aug 20.

Department of Pediatrics.

Therapeutic phlebotomy is recommended for treating hereditary hemochromatosis. However, the procedure and its efficacy for children remain unclear. We describe a young female patient with ferroportin disease, which was confirmed from excess iron deposition within hepatocytes and by identifying a heterozygous variant p. Read More

Dtsch Med Wochenschr 2018 Aug 7;143(16):1167-1173. Epub 2018 Aug 7.

Arthropathy is the most common and often the earliest clinical manifestation of hereditary hemochromatosis (HH). It is difficult to treat and there is a high risk for early endoprosthetic joint replacement. Research done during the last decade shows that it is a joint disease in its own right. Read More

J Matern Fetal Neonatal Med 2018 Sep 10:1-3. Epub 2018 Sep 10.

f Gastroenterology, Hepatology and Nutrition Department , Hospital Sant Joan de Déu, University of Barcelona , Barcelona , Spain.

Neonatal hemochromatosis (NH) has been defined as neonatal liver disorder accompanied by extrahepatic siderosis, and gestational alloimmune liver disease (GALD) is the main cause of NH. We report an atypical case of NH that may have gone underdiagnosed. A male infant was born at term after an uneventful antenatal period. Read More

Transplant Direct 2018 Jul 8;4(7):e363. Epub 2018 Jun 8.

Division of Gastroenterology and Hepatology, University of California at San Francisco, San Francisco, CA.

Background: In end-stage liver disease, alterations in iron metabolism can lead to iron overload and development of iron overload cardiomyopathy. In liver transplant candidates, evaluation for cardiac iron overload and dysfunction can help to identify candidates at increased risk for peritransplant morbidity and mortality, though recommendations for pretransplant evaluation of cardiac iron overload are not standardized. Cardiac Magnetic Resonance Imaging T2* (CMRI-T2*) is a validated method to quantify cardiac iron deposition, with normal T2* value of 20 ms or greater. Read More

Expert Rev Gastroenterol Hepatol 2018 Aug 19;12(8):767-778. Epub 2018 Jul 19.

d Department of Digestive Diseases and Hepatology , Mount Sinai Beth Israel , New York , NY , USA.

Introduction: Hereditary hemochromatosis (HH) is an autosomal recessive disorder that occurs in approximately 1 in 200-250 individuals. Mutations in the HFE gene lead to excess iron absorption. Excess iron in the form of non-transferrin-bound iron (NTBI) causes injury and is readily uptaken by cardiomyocytes, pancreatic islet cells, and hepatocytes. Read More

BMC Gastroenterol 2018 Jun 5;18(1):78. Epub 2018 Jun 5.

Unit of Liver Diseases, Department of Upper GI, C1-77 Huddinge, Karolinska University Hospital, Karolinska Institutet, 141 86, Stockholm, Sweden.

Background: One-third of patients with non-alcoholic fatty liver disease (NAFLD) develop dysmetabolic iron overload syndrome (DIOS), the pathogenesis of which is unknown. Altered production of the iron-regulatory peptide hepcidin has been reported in NAFLD, but it is unclear if this is related to iron accumulation, lipid status or steatohepatitis.

Methods: Eighty-four patients with liver disease, 54 of which had iron overload, underwent liver biopsy (n = 66) and/or magnetic resonance imaging (n = 35) for liver iron content determination. Read More

Case Rep Surg 2018 10;2018:9183717. Epub 2018 Apr 10.

Service de Chirurgie, Institut Jules Bordet, Université Libre de Bruxelles (ULB), Bruxelles, Belgium.

Introduction: Primary hepatic lymphomas (PHLs) are rare liver tumors, frequently misdiagnosed preoperatively. As these tumors could be successfully treated with chemotherapy, their early recognition is essential, potentially, to avoid useless surgery. We report on the case of a cirrhotic patient with hemochromatosis who presented a PHL, initially diagnosed as a hepatocellular carcinoma (HCC), and we analyze recent data from the literature on this subject. Read More

Intern Med 2018 Oct 18;57(19):2865-2871. Epub 2018 May 18.

Department of Medicine, Aichi-Gakuin University School of Pharmacy, Japan.

This is a 10-year follow-up study of a family with ferroportin disease A. The proband, a 59-year-old man showed no noteworthy findings with the exception of an abnormal iron level. The proband's 90-year-old father showed reduced abilities in gait and cognition; however, with the exception of his iron level, his biochemistry results were almost normal. Read More

Magn Reson Med 2018 Dec 16;80(6):2691-2701. Epub 2018 May 16.

Radiology, University of Texas Southwestern Medical Center, Dallas, Texas.

Purpose: To assess the reproducibility of biexponential R -relaxometry MRI for estimation of liver iron concentration (LIC) between proprietary and nonproprietary analysis methods.

Methods: This single-center retrospective study, approved by investigational review board and compliant with the Health Insurance Portability and Accountability Act, included 40 liver MRI exams in 38 subjects with suspected or known iron overload. From spin-echo images of the liver, acquired at 5 different echo times (TE = 6-18 ms), biexponential R maps were calculated using 1 proprietary (FerriScan, Resonance Health Ltd. Read More

BMJ Case Rep 2018 May 16;2018. Epub 2018 May 16.

Department of Medicine, Unit of Internal Medicine, Azienda Ospedaliera Universitaria Integrata Verona, University of Verona, Verona, Italy.

A 48-year-old man, former alcohol abuser and drug addicted, was referred to our tertiary referral centre for iron disorders because of marked hyperferritinaemia. His clinical history revealed chronic hepatitis C, ß-thalassaemia trait and post-traumatic splenectomy at age of 22. MRI-estimated liver iron content was markedly elevated, while first-line genetic test for haemochromatosis was negative. Read More

AJP Rep 2018 Apr 14;8(2):e95-e98. Epub 2018 May 14.

Department of Pediatrics, John R. Oishei Children's Hospital, Buffalo, New York.

Neonatal liver failure (NLF) is a rare diagnosis but carries with it significant risks of mortality and morbidity. Common etiologies for NLF include metabolic causes, gestational alloimmune liver disease (GALD or neonatal hemochromatosis), and viral infections. We report a case of liver failure in a premature infant with abnormal iron profile within 48 hours of birth. Read More

Arch Med Sci 2018 Apr 30;14(3):560-568. Epub 2017 Jun 30.

Cardiology Division, Department of Medicine, Westchester Medical Center/New York Medical College, Valhalla, NY, USA.

Iron-overload syndromes may be hereditary or acquired. Patients may be asymptomatic early in the disease. Once heart failure develops, there is rapid deterioration. Read More

Intern Med J 2018 05;48(5):509-516

School of Medicine, The University of Queensland, Brisbane, Queensland, Australia.

Haemochromatosis is most commonly due to the autosomal recessive inheritance of a C282Y substitution in the HFE protein, whereby both alleles of the corresponding gene are affected. The disease is characterised by an inappropriate increase in intestinal iron absorption due to reduced expression of the iron regulatory protein, hepcidin. Progressive iron deposition in parenchymal tissues may ultimately lead to liver and other organ toxicity. Read More

Case Reports Hepatol 2018 12;2018:9403934. Epub 2018 Feb 12.

Department of Medicine, Interfaith Medical Center, Brooklyn, NY, USA.

Isolated hyperbilirubinemia as a manifestation of alcoholic liver disease without significant liver abnormalities is seen very rarely. We report such a case where a patient with chronic alcoholism presented to the ER with acute jaundice with bilirubin of 24.8 mg/dl, predominantly conjugated in nature along with mild elevation of AST (76 IU/L). Read More

Nat Rev Dis Primers 2018 Apr 5;4:18016. Epub 2018 Apr 5.

INSERM, Univ. Rennes, INRA, Institut NUMECAN (Nutrition Metabolisms and Cancer) UMR_A 1341, UMR_S 1241, F-35000 Rennes, France.

Haemochromatosis is defined as systemic iron overload of genetic origin, caused by a reduction in the concentration of the iron regulatory hormone hepcidin, or a reduction in hepcidin-ferroportin binding. Hepcidin regulates the activity of ferroportin, which is the only identified cellular iron exporter. The most common form of haemochromatosis is due to homozygous mutations (specifically, the C282Y mutation) in HFE, which encodes hereditary haemochromatosis protein. Read More

BMJ Case Rep 2018 Mar 28;2018. Epub 2018 Mar 28.

School of Allied Health Sciences, Griffith University - Gold Coast Campus, Southport, Queensland, Australia.

A 54-year-old woman presented to a Sports Physician with a 4-year history of haemochromatosis, and she had a medical history that included a congenital spondylolisthesis resulting in a fusion of L4-S1 at age 16 years, episodic mechanical low back pain and an absence of other significant musculoskeletal symptoms. On presentation, she reported 18 months of severe low back pain that started after a scuba diving trip. After the onset of this low back pain, she developed gastrointestinal symptoms from The gastrointestinal symptoms improved with a course of antibiotics, but the back pain persisted in spite of analgesics, non-steroidal anti-inflammatories and several attempts at different conservative management. Read More

Clin Imaging 2018 May - Jun;49:169-173. Epub 2018 Mar 7.

Department of Radiology, Case Western Reserve University, University Hospitals Cleveland Medical Center, Cleveland, OH, United States. Electronic address:

Splenic artery steal syndrome (SASS) is a severe complication affecting up to 10% of orthotopic liver transplant (OLT) patients. In this case report, we present a 35-year-old male with OLT secondary to liver failure due to hemochromatosis, who developed SASS. We describe potential application of different imaging techniques for diagnosis of SASS with focus on the value of time-resolved contrast enhanced 4D magnetic resonance angiography (MRA). Read More

Curr Opin Cardiol 2018 05;33(3):334-340

Advanced Heart Failure and Transplant Unit.

Purpose Of Review: Iron overload cardiomyopathy (IOC) is an important predictor of prognosis in a significant number of patients with hereditary hemochromatosis and hematologic diseases. Its prevalence is increasing because of improved treatment strategies, which significantly improve life expectancy. We will review diagnosis, treatment, and recent findings in the field. Read More

Radiographics 2018 Mar-Apr;38(2):392-412

From the Department of Radiology (R.L., G.G., M.C., K.N.V., D.O., J.S.B., A.T.) and Service of Hemato-oncology, Department of Medicine (D.S.), Centre Hospitalier de l'Université de Montréal, 1000 rue Saint-Denis, Montréal, QC, Canada H2X 0C2; MR Clinical Science, Philips Healthcare Canada, Markham, ON, Canada (G.G.); Department of Radiology and Advanced Imaging Research Center, University of Texas Southwestern Medical Center, Dallas, Tex (T.Y.); and Centre de Recherche du Centre Hospitalier de l'Université de Montréal, Montréal, QC, Canada (A.T.).

Iron overload is a systemic disorder and is either primary (genetic) or secondary (exogenous iron administration). Primary iron overload is most commonly associated with hereditary hemochromatosis and secondary iron overload with ineffective erythropoiesis (predominantly caused by β-thalassemia major and sickle cell disease) that requires long-term transfusion therapy, leading to transfusional hemosiderosis. Iron overload may lead to liver cirrhosis and hepatocellular carcinoma, in addition to cardiac and endocrine complications. Read More

Pol Arch Intern Med 2018 02 28;128(2):132-133. Epub 2018 Feb 28.

Oman Med J 2018 Jan;33(1):48-54

Department of Pediatric, School of Medical Sciences, Zanjan University of Medical Sciences, Zanjan, Iran.

Objectives: Organ-specific hemosiderosis and iron overload complications are more serious and more frequent in some patients with beta thalassemia major (BTM) compared with others. We investigated whether coinheritance of HFE H63D or C282Y gene mutations in patients with BTM contributes to the phenotypic variation of iron overload complications and assessed the correlation of cardiac and hepatic hemosiderosis with plasma ferritin levels.

Methods: We studied 60 patients with BTM with a mean age of 17. Read More

J Med Case Rep 2018 Jan 26;12(1):18. Epub 2018 Jan 26.

Department of Gastroenterology & Hepatology, The Alfred Hospital, Melbourne, VIC, 3004, Australia.

Background: Juvenile hemochromatosis is the most severe form of iron overloading phenotype. Although rare, it should be suspected in patients who present with hypogonadotropic hypogonadism, diabetes mellitus, or cardiomyopathy without a clear cause.

Case Presentation: A young Serbian male presenting with end-stage heart failure was referred for extracorporeal membrane oxygenation. Read More

J Med Case Rep 2018 Jan 15;12(1). Epub 2018 Jan 15.

Department of Diagnostic Radiology, University of Iowa Hospitals and Clinics, 200 Hawkins Dr, Iowa City, IA, 52242, USA.

Background: Extramedullary hematopoiesis is the proliferation of hematopoietic cells outside bone marrow secondary to marrow hematopoiesis failure. Extramedullary hematopoiesis rarely presents as a mass-forming hepatic lesion; in this case, imaging-based differentiation from primary and metastatic hepatic neoplasms is difficult, often leading to biopsy for definitive diagnosis. We report a case of tumefactive hepatic extramedullary hematopoiesis in the setting of myelodysplastic syndrome with concurrent hepatic iron overload, and the role of T2*-weighted gradient-echo magnetic resonance imaging in differentiating extramedullary hematopoiesis from primary and metastatic hepatic lesions. Read More

Eur Radiol 2018 Jun 9;28(6):2535-2536. Epub 2018 Jan 9.

Department of Radiology, Medical University of Innsbruck, Anichstraße 35, 6020, Innsbruck, Austria.

This Editorial comment refers to the article: Non-invasive measurement of liver iron concentration using 3-Tesla magnetic resonance imaging: validation against biopsy. D'Assignies G, et al. Eur Radiol Nov 2017. Read More

BMC Med Genet 2018 01 5;19(1). Epub 2018 Jan 5.

Laboratory of Genetics and Molecular Cardiology, Heart Institute (InCor), University of São Paulo Medical School, Av. Doutor Enéas de Carvalho Aguiar, 44-Cerqueira César, São Paulo, 05403 900, Brazil.

Background: Hereditary hemochromatosis (HH) encompasses a group of autosomal recessive disorders mainly characterized by enhanced intestinal absorption of iron and its accumulation in parenchymal organs. HH diagnosis is based on iron biochemical and magnetic resonance imaging (MRI) assessment, and genetic testing. Questionnaires, such as SF-36 (short form health survey), have been increasingly used to assess the impact of diseases on the patient's quality of life (QL). Read More

J Pediatr Gastroenterol Nutr 2018 04;66(4):581-587

Department of Diagnostic Imaging.

Background: There are limited data on utility of magnetic resonance imaging (MRI) in the assessment of suspected neonatal hemochromatosis (NH).

Objectives: The aim of the study was to present our experience with utilization of multi-echo sequence MRI technique in the evaluation of NH and to compare MRI findings in infants with and without NH.

Methods: MRI performed for suspected NH were retrospectively reviewed to note the presence and severity of iron deposition (ID) in liver, spleen, pancreas, and kidneys on multi-echo sequences. Read More

Neuroimage Clin 2018 8;17:530-540. Epub 2017 Nov 8.

Buffalo Neuroimaging Analysis Center, Department of Neurology, Jacobs School of Medicine and Biomedical Sciences, University at Buffalo, The State University of New York, Buffalo, NY, USA.

Brain iron homeostasis is known to be disturbed in multiple sclerosis (MS), yet little is known about the association of common gene variants linked to iron regulation and pathological tissue changes in the brain. In this study, we investigated the association of genetic determinants linked to iron regulation with deep gray matter (GM) magnetic susceptibility in both healthy controls (HC) and MS patients. Four hundred (400) patients with MS and 150 age- and sex-matched HCs were enrolled and obtained 3 T MRI examination. Read More

Eur Radiol 2018 May 24;28(5):2022-2030. Epub 2017 Nov 24.

Department of Radiology, Rennes University Hospital, 2 rue H. Le Guilloux, 35033, Rennes, France.

Objectives: To evaluate the performance and limitations of the R2* and signal intensity ratio (SIR) methods for quantifying liver iron concentration (LIC) at 3 T.

Methods: A total of 105 patients who underwent a liver biopsy with biochemical LIC (LIC) were included prospectively. All patients underwent a 3-T MRI scan with a breath-hold multiple-echo gradient-echo sequence (mGRE). Read More

Presse Med 2017 Dec 20;46(12 Pt 2):e288-e295. Epub 2017 Nov 20.

Inserm-UMR 991, 2, rue Henri-Le-Guilloux, 35033 Rennes, France.

The term hemochromatosis (HC) corresponds to several diseases characterized by systemic iron overload of genetic origin and affecting both the quality of life and life expectancy. Major improvement in the knowledge of iron metabolism permits to divide these diseases into two main pathophysiological categories. For most HC forms (types 1, 2, 3 and 4B HC) iron overload is related to cellular hepcidin deprivation which causes an increase of plasma iron concentration and the appearance of plasma non-transferrin bound iron. Read More

Presse Med 2017 Dec 16;46(12 Pt 2):e312-e328. Epub 2017 Nov 16.

University of California, Division of Nephrology and Hypertension, Irvine, USA.

Iron overload was considered rare in hemodialysis patients until recently, but its clinical frequency is now increasingly recognized. The liver is the main site of iron storage and the liver iron concentration (LIC) is closely correlated with total iron stores in patients with secondary hemosiderosis and genetic hemochromatosis. Magnetic resonance imaging (MRI) is now the gold standard method for estimating and monitoring LIC. Read More

Clin Radiol 2018 03 7;73(3):323.e1-323.e8. Epub 2017 Nov 7.

Department of Rheumatology, St George's University Hospitals NHS Foundation Trust, UK. Electronic address:

Aim: To examine the magnetic resonance imaging (MRI) features of the ankle and subtalar joints that might distinguish genetic haemochromatosis (GH).

Materials And Methods: The present study was a retrospective case-control study comparing 30 MRI studies of GH patients with ankle or subtalar arthropathy with 30 matched controls with ankle pain. Anonymised images were scored using a semi-quantative tool adapted from the MRI osteoarthritis knee score. Read More

Swiss Med Wkly 2017 8;147:w14550. Epub 2017 Nov 8.

Department of Radiology, University Hospital Geneva, Switzerland.

Hyperferritinaemia is a frequent clinical problem. Elevated serum ferritin levels can be detected in different genetic and acquired diseases and can occur with or without anaemia. It is therefore important to determine whether hyperferritinaemia is due to iron overload or due to a secondary cause. Read More

Haematologica 2017 12 3;102(12):1972-1984. Epub 2017 Nov 3.

Center for Hemochromatosis, Department of Internal Medicine II, University of Modena and Reggio Emilia Policlinico, Modena, Italy

Ferroportin Disease (FD) is an autosomal dominant hereditary iron loading disorder associated with heterozygote mutations of the ferroportin-1 () gene. It represents one of the commonest causes of genetic hyperferritinemia, regardless of ethnicity. FPN1 transfers iron from the intestine, macrophages and placenta into the bloodstream. Read More

Eur J Haematol 2018 Feb 7;100(2):124-130. Epub 2017 Dec 7.

Campus of Haematology Franco and Piera Cutino, AOOR Villa Sofia-V. Cervello, Palermo, Italy.

Objectives: The liver remains the primary site of iron storage, with liver iron concentration (LIC) being a strong surrogate of total body iron. MRI-R2 can accurately measure LIC. The LICNET (Liver Iron Cutino Network) was established to diagnostics of liver iron overload by MRI-R2 subjects with hemochromatosis in hematological disorders. Read More