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Med Mol Morphol 2020 Jun 30. Epub 2020 Jun 30.

Third Department of Internal Medicine, School of Medicine, University of Occupational and Environmental Health, 1-1 Iseigaoka, Yahatanishi-ku, Kitakyushu, 807-8555, Japan.

Hemochromatosis is a clinical syndrome characterized by iron overload in various organs. We present here a case of type 4 hereditary hemochromatosis due to heterozygous mutation in SLC40A1 gene (p.D157A). Read More

Abdom Radiol (NY) 2020 May 20. Epub 2020 May 20.

Radiology Department - Centro Hospitalar Universitário do Porto, Largo Prof Abel Salazar, 4099-001, Porto, Portugal.

Iron overload is a common clinical problem resulting from hereditary hemochromatosis or secondary hemosiderosis (mainly associated with transfusion therapy), being also associated with chronic liver diseases and metabolic disorders. Excess of iron accumulates in organs like the liver, pancreas and heart. Without treatment, patients with iron overload disorders will develop liver cirrhosis, diabetes and cardiomyopathy. Read More

Am J Case Rep 2020 Apr 24;21:e923108. Epub 2020 Apr 24.

Endocrinology Unit, University Hospital of the Federal University of Maranhão (HUUFMA), São Luís, Brazil.

BACKGROUND Juvenile hemochromatosis is a rare genetic disease that leads to intense iron accumulation. The disease onset usually occurs before the third decade of life and causes severe dysfunction in various organs. The most classical clinical findings are hypogonadotropic hypogonadism, cardiomyopathy, liver fibrosis, glycemic changes, arthropathy and skin pigmentation. Read More

Am J Ophthalmol Case Rep 2020 Jun 20;18:100674. Epub 2020 Mar 20.

Casey Eye Institute, Oregon Health & Science University, 515 SW Campus Drive, Portland, OR, 97239, USA.

Purpose: To report a case of bull's eye maculopathy, a novel finding in a patient with iron overload secondary to hereditary hemochromatosis with a homozygous mutation of the gene.

Observations: A 39-year-old man with recently diagnosed hereditary hemochromatosis undergoing treatment by serial phlebotomy presented with bilateral progressive blurry vision and recent onset of photopsias and headaches. Fundus examination revealed a symmetric bull's eye maculopathy with photoreceptor loss and retinal pigment epithelium transmission defects in the area of speckled hyper- and hypo-pigmentation by multimodal imaging. Read More

Transl Gastroenterol Hepatol 2020 5;5:25. Epub 2020 Apr 5.

Centre for Rare Diseases, Disorder of Iron Metabolism, ASST-Monza, S. Gerardo Hospital, Monza, Italy.

Hereditary iron overload includes several disorders characterized by iron accumulation in tissues, organs, or even single cells or subcellular compartments. They are determined by mutations in genes directly involved in hepcidin regulation, cellular iron uptake, management and export, iron transport and storage. Systemic forms are characterized by increased serum ferritin with or without high transferrin saturation, and with or without functional iron deficient anemia. Read More

Cureus 2020 Mar 4;12(3):e7179. Epub 2020 Mar 4.

Gastroenterology and Hepatology, Cleveland Clinic Foundation, Cleveland, USA.

Hemochromatosis is a disorder of iron overload whereby there is toxic deposition of iron in various tissues and organs of the body. It can either be hereditary or secondary to some other underlying cause. Patients with mutations in the HFE gene are often predisposed to developing this disorder. Read More

World J Nucl Med 2020 Jan-Mar;19(1):85-88. Epub 2020 Jan 24.

Department of Radiology, Stony Brook University Hospital, NY, USA.

Positron emission tomography-magnetic resonance (PET-MR) hybrid imaging is a relatively new imaging modality combining the superb MR contrast capabilities among different soft-tissue structures with the high sensitivity of PET functional imaging. With the development of any new technology, a variety of limitations will be encountered including the introduction of new types of artifacts. In this case report, we present a restaging PET-MR scan for multiple myeloma that showed severely decreased fluorodeoxyglucose activity in the liver on the PET attenuated corrected images. Read More

Eur Heart J Case Rep 2020 Feb 13;4(1):1-6. Epub 2020 Feb 13.

Clinic of Cardiac and Vascular Diseases, Institute of Clinical Medicine, Faculty of Medicine, Vilnius University, Santariškių 2, LT-08661 Vilnius, Lithuania.

Background: Primary iron overload cardiomyopathy is an important and potentially preventable cause of heart failure (HF), usually manifesting in the 4-5th decade of life. Patients may be asymptomatic early in the disease with hidden progression of cardiac dysfunction. The challenge of timely detection is an awareness of this systemic disorder and an adequate degree of clinical vigilance. Read More

Euroasian J Hepatogastroenterol 2019 Jan-Jun;9(1):27-33

Department of Medicine, Baqai Medical University, Karachi, Pakistan.

Amongst the primary tumors of the liver, hepatocellular carcinoma (HCC) is the most common. It is also one of the most prevalent types of cancers in Asia. Mostly, HCC occurs on a background of chronic liver disease and liver cirrhosis; however, de novo HCCs can also arise in apparently normal looking livers on imaging. Read More

Vnitr Lek 2019 ;65(11):715-720

Panhypopituitarism following craniopharyngioma resection has systemic impact with potential influence on physio-logical hematopoiesis. There is a growing body of evidence of liver fibrosis/cirrhosis risk development due to altered metabolism and lipid accumulation. The authors present a case report of a woman with a history of craniopharyngioma resection followed by aggravating pancytopenia with suspected indolent lymphoproliferative disorder and possible acquired bone marrow aplasia syndrome due to paroxysmal nocturnal hemoglobinuria. Read More

Pediatr Blood Cancer 2020 04 30;67(4):e28137. Epub 2019 Dec 30.

Clinica Pediatrica, Università degli Studi di Milano Bicocca, Fondazione Monza e Brianza per il Bambino e la sua Mamma, Ospedale San Gerardo, Monza, Italy.

Background: The advent of techniques for the assessment of iron overload (liver T2*-MRI) has led to the awareness that focal nodular hyperplasia (FNH) represents a possible incidental finding after hematopoietic stem cell transplantation (HSCT), though its pathogenesis is still unclear.

Methods: We performed a retrospective analysis of the liver T2*-MRI scans performed between 2013 and 2018 in a single pediatric HSCT Unit and recorded the number of patients with FNH (group A). Patients incidentally diagnosed with FNH at imaging performed for different clinical indications were included in group B. Read More

J Magn Reson Imaging 2019 Dec 14. Epub 2019 Dec 14.

University of Groningen, Groningen, The Netherlands.

Cardiac T * mapping is a noninvasive MRI method that is used to identify myocardial iron accumulation in several iron storage diseases such as hereditary hemochromatosis, sickle cell disease, and β-thalassemia major. The method has improved over the years in terms of MR acquisition, focus on relative artifact-free myocardium regions, and T * quantification. Several improvement factors involved include blood pool signal suppression, the reproducibility of T * measurement as affected by scanner hardware, and acquisition software. Read More

Cancer Cytopathol 2019 Nov 13;127(11):691-699. Epub 2019 Sep 13.

Department of Pathology, Emory University Hospital, Atlanta, Georgia.

Background: Hepatocellular carcinoma (HCC) rarely involves the biliary tree and may be inadvertently sampled on bile duct brushings (BDBs).

Methods: The pathology archives of 5 institutions were searched for BDBs with HCC involvement.

Results: A total of 17 BDBs from 14 patients were obtained. Read More

J Magn Reson Imaging 2020 Mar 11;51(3):897-903. Epub 2019 Sep 11.

Pediatric Cardiology, Pediatric Heart Center, Department of Surgery, University Children's Hospital Zurich, Switzerland.

Background: T mapping is useful to quantify diffuse myocardial processes such as fibrosis, edema, storage disorders, or hemochromatosis. Normal pediatric myocardial T values are scarce using modified Look-Locker inversion recovery (MOLLI) sequences and unavailable using Smart1Map, a single-point saturation recovery sequence that measures true T .

Purpose/hypothesis: To establish normal pediatric myocardial T values by Smart1Map and to compare them with T by MOLLI. Read More

Quant Imaging Med Surg 2019 Jun;9(6):921-927

Department of Gastroenterology and Hepatology, Mayo Clinic, Jacksonville, FL, USA.

Background: Magnetic resonance elastography (MRE) is a non-invasive test used to assess liver stiffness and fibrosis in chronic liver disease, which includes systemic iron overload. However, iron deposition by itself is associated with technical failure of MRE of the liver which necessitates the use of invasive liver biopsy as an alternative monitoring method for these patients. T2*-weighted magnetic resonance imaging (T2*) is a reliable modality to asses for hepatic as well as total body iron overload. Read More

J Hepatol 2019 09 19;71(3):594-602. Epub 2019 Jun 19.

Research Centre for Optimal Health, School of Life Sciences, University of Westminster, London, UK; Genetics of Complex Traits, College of Medicine and Health, University of Exeter, Exeter, UK. Electronic address:

Background & Aims: Excess liver iron content is common and is linked to the risk of hepatic and extrahepatic diseases. We aimed to identify genetic variants influencing liver iron content and use genetics to understand its link to other traits and diseases.

Methods: First, we performed a genome-wide association study (GWAS) in 8,289 individuals from UK Biobank, whose liver iron level had been quantified by magnetic resonance imaging, before validating our findings in an independent cohort (n = 1,513 from IMI DIRECT). Read More

Ann Hepatol 2019 Jan - Feb;18(1):165-171

Francis Family Liver Clinic, University of Toronto, Canada, 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 professional 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

Ir J Med Sci 2020 Feb 20;189(1):109-117. Epub 2019 May 20.

Institute of Cardiovascular Science, St James Hospital, Dublin 8, Ireland.

Background: Hereditary haemochromatosis is often not diagnosed until adulthood. Iron overload cardiomyopathy initially results in diastolic dysfunction and can result in arrhythmias and irreversible cardiac failure if untreated. The aim of this study was to investigate whether patients with newly diagnosed hereditary haemochromatosis without signs of heart failure exhibit subclinical alterations of cardiac function and to determine if cardiac function improved after 1 year of venesection. Read More

Food Nutr Res 2019 9;63. Epub 2019 May 9.

Dr. Herbs LLC, R&D, Concord, CA, USA.

Background: The American Society of Hematology reported that according to the National Heart, Lung, and Blood Institute (NHLBI) anemia is the most common blood disorder, which affects more than 3 million Americans, while the Global Burden of Disease 2016 (GBD 2016) reported that iron deficiency anemia (IDA) is the leading cause of anemia, which affects 1.93 billion people worldwide. Anemia is intricately linked to chronic inflammation, chronic kidney disease, gastrointestinal and gynecological malignancies, and autoimmune disorders. Read More

Eur J Haematol 2019 Aug 30;103(2):80-87. Epub 2019 May 30.

Division of Hematology, University of Toronto, Toronto, Ontario, Canada.

Objective: While doses of deferiprone up to 75 mg/kg/d have been demonstrated to be effective in cardiac iron removal, their efficacy in the reduction of liver iron has been equivocal. The aim of this study was to evaluate the effect of deferiprone dose on liver iron concentrations in adult iron overload patients.

Methods: A single-centered, retrospective, cohort observational study was conducted involving 71 patients exposed to deferiprone doses up to 113 mg/kg/d between January 2009 and June 2015 for a median of 33 months. Read More

Rural Remote Health 2019 05 5;19(2):4844. Epub 2019 May 5.

Arran Medical Group, Lamlash, Isle of Arran, United Kingdom

Iron can accumulate in the body due to several causes, resulting in iron overload syndrome. The most common cause is hereditary haemochromatosis (HH), a genetic disorder triggered by inactivation of the iron hormone hepcidin, which results in hyperferraemia and excessive tissue iron deposition. Other causes include repeated blood transfusion, iron-loading anaemias and some chronic liver diseases. Read More

Int J Dermatol 2019 Nov 21;58(11):1239-1245. Epub 2019 Apr 21.

Departments of Pediatrics, Laboratory Medicine, and Pathology, The University of Alberta, Edmonton, Alberta, Canada.

Melanonychia striata is characterized by a tan, brown, or black longitudinal streak within the nail plate that runs from the proximal nail fold to the distal part of the nail plate. Melanonychia striata is due to increased activity of melanocytes or melanocytic hyperplasia in the nail matrix with subsequently increased melanin deposition in the nail plate. The most common cause of melanonychia striata associated with melanocytic activation is ethnic melanonychia which occurs in dark-skinned individuals. Read More

Eur J Heart Fail 2019 May 16;21(5):553-576. 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 05 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 03 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

J Trace Elem Med Biol 2019 Mar 22;52:166-175. Epub 2018 Dec 22.

University of Münster, Institute of Inorganic and Analytical Chemistry, Corrensstraße 30, 48149 Münster, Germany. Electronic address:

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. Read More

Rev Neurol 2019 Feb;68(3):107-110

Hospital General Universitario Gregorio Maranon, Madrid, Espana.

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. Read More

Diabetes Metab 2019 10 17;45(5):473-479. 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 10 17;19(5):417-427. 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

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

AJR Am J Roentgenol 2018 12 9;211(6):1206-1211. Epub 2018 Oct 9.

1 Department of Radiology, University of Wisconsin School of Medicine and Public Health, 600 Highland Ave, Madison, WI 53792.

Objective: The purpose of this study was to assess whether a specific liver attenuation threshold for unenhanced CT allows both sensitive opportunistic detection of unsuspected hereditary hemochromatosis and low overall screening test-positive rates.

Materials And Methods: We used a standard ROI placement method on unenhanced CT studies of 3357 consecutive adults (mean age, 57.0 years) with no symptoms of liver disease who underwent colorectal screening. 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 12 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 R Coll Physicians Edinb 2018 Sep;48(3):233-238

St George's University Hospitals NHS Foundation Trust, Blackshaw Road, London SW17 0QT, UK,

Genetic haemochromatosis is an autosomal recessive disorder, mostly due to HFE gene mutation, leading to loss of hepcidin and unregulated iron loading. The consequences include hepatic fibrosis, cardiomyopathy and skin pigmentation, and these sequelae along with fatigue may be prevented by 'de-ironing'. Joint pain is frequently reported at diagnosis and an arthropathy that is essentially accelerated osteoarthritis may develop, with onset at a younger than expected age, involvement of typical and atypical joints, such as metacarpophalangeal and ankle, exuberant osteophytes and rapid progression to cartilage loss and the need for arthroplasty. Read More

J Pediatr Hematol Oncol 2019 Jul;41(5):e325-e328

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 2020 Mar 10;33(6):1024-1026. Epub 2018 Sep 10.

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

Dis Mon 2018 Aug 5;64(8):361-369. Epub 2018 Jun 5.

Division of General Internal Medicine, Mayo Clinic, Rochester, MN, United States. Electronic address:

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