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Trends Pharmacol Sci 2021 Jun 2. 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

Hepatology 2021 May 28. Epub 2021 May 28.

Department of Medicine I, Christian Doppler Laboratory on Iron and Phosphate Biology, Medical University of Innsbruck, Anichstrasse 35, 6020, Innsbruck, Austria.

Background & 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 HFE and rare variants in non-HFE genes. Read More

J Pediatr Surg 2021 Mar 24. 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

Pediatrics 2021 Mar 30. Epub 2021 Mar 30.

Division of Gastroenterology, Hepatology and Nutrition, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio;

Objectives: To determine the prevalence of alternative causes of liver disease in a cohort of youth with overweight and obesity undergoing evaluation for suspected nonalcoholic fatty liver disease (NAFLD).

Methods: Multicenter, retrospective cohort study of patients aged ≤18 years with overweight and obesity and evidence of elevated serum aminotransferases and/or hepatic steatosis on imaging, referred for suspected NAFLD to Cincinnati Children's Hospital Medical Center (2009-2017) or Yale New Haven Children's Hospital (2012-2017). Testing was performed to exclude the following: autoimmune hepatitis (AIH), Wilson disease, viral hepatitis (B and C), thyroid dysfunction, celiac disease, α-1 antitrypsin deficiency, and hemochromatosis. Read More

Pediatr Radiol 2021 Mar 12. Epub 2021 Mar 12.

Department of Pediatrics, University of Toronto, Toronto, ON, Canada.

Neonatal hemochromatosis is a rare condition that causes neonatal liver failure, frequently resulting in fetal loss or neonatal death. It is thought that most cases of neonatal hemochromatosis are caused by gestational alloimmune liver disease (GALD), with neonatal hemochromatosis being a phenotype of GALD rather than a disease process. Extrahepatic siderosis in the pancreas, myocardium, thyroid and minor salivary gland is a characteristic feature of neonatal hemochromatosis. Read More

BMC Gastroenterol 2021 Mar 5;21(1):111. Epub 2021 Mar 5.

Department of Hepatology and Pancreatology, Kawasaki Medical School, 577 Matsushima, Kurashiki, 701-0192, Japan.

Background: Hereditary hemochromatosis is a heterogenous group of inherited iron-overload conditions that is characterized by increased intestinal absorption and deposition in vital organs. Hepcidin is a soluble regulator that acts to attenuate both intestinal iron absorption and iron release from reticuloendothelial macrophages through internalization of ferroportin-1, an iron exporter. Ferroportin disease is hereditary hemochromatosis which is affected by SLC40A1, a gene coding ferroportin-1, and phenotypically classified into two forms (classical and nonclassical). Read More

Front Neurol 2021 11;12:609236. Epub 2021 Feb 11.

Department of Clinical Biochemistry, School of Pharmacy and Biochemistry, Pathophysiology and Clinical Biochemistry Institute (INFIBIOC), University of Buenos Aires, Buenos Aires, Argentina.

Uncontrolled repetitive generalized tonic-clonic seizures (GTCS) are the main risk factor for sudden unexpected death in epilepsy (SUDEP). GTCS can be observed in models such as Pentylenetetrazole kindling (PTZ-K) or pilocarpine-induced Status Epilepticus (SE-P), which share similar alterations in cardiac function, with a high risk of SUDEP. Terminal cardiac arrhythmia in SUDEP can develop as a result of a high rate of hypoxic stress-induced by convulsions with excessive sympathetic overstimulation that triggers a neurocardiogenic injury, recently defined as "Epileptic Heart" and characterized by heart rhythm disturbances, such as bradycardia and lengthening of the QT interval. Read More

Diagnostics (Basel) 2021 Feb 7;11(2). Epub 2021 Feb 7.

Internal Medicine Department, "Grigore T. Popa" University of Medicine and Pharmacy, 700503 Iași, Romania.

Infiltrative cardiomyopathies (ICMs) comprise a broad spectrum of inherited and acquired conditions (mainly amyloidosis, sarcoidosis, and hemochromatosis), where the progressive buildup of abnormal substances within the myocardium results in left ventricular hypertrophy and manifests as restrictive physiology. Noninvasive multimodality imaging has gradually eliminated endomyocardial biopsy from the diagnostic workup of infiltrative cardiac deposition diseases. However, even with modern imaging techniques' widespread availability, these pathologies persist in being largely under- or misdiagnosed. Read More

BMJ Case Rep 2021 Feb 5;14(2). Epub 2021 Feb 5.

Division of Hematology-Oncology, Department of Medicine, Indiana University School of Medicine, Indianapolis, Indiana, USA

Iatrogenic iron overload, which is not uncommon in patients undergoing long-term haemodialysis, arises from a combination of multiple red cell transfusions and parenteral iron infusions that are administered to maintain a haemoglobin concentration of approximately 10 g/dL. Although iron overload due to genetic haemochromatosis is conventionally managed by phlebotomy, patients with haemoglobinopathies and chronic transfusion-induced iron overload are treated with iron-chelation therapy. However, the management of iron overload in our patient who presented with hepatic dysfunction and immunosuppressive drug-induced mild anaemia in the post-renal transplant setting posed unique challenges. Read More

Open Access Rheumatol 2021 15;13:15-21. Epub 2021 Jan 15.

King Saud Bin Abdulaziz University for Health Sciences (KSAU-HS), Riyadh 14611, Saudi Arabia.

Hereditary hemochromatosis (HH) is an inherited iron overload. The most common form of HH is type 1 hereditary hemochromatosis (HFE-related), which is associated with mutation of the HFE gene located on chromosome 6 and inherited in an autosomal recessive pattern. Type 2 hereditary hemochromatosis or juvenile hemochromatosis is less frequent autosomal recessive disease that results from mutations in the HJV gene on chromosome 1 (type2a) or the HAMP gene on chromosome19 (type2b). Read More

J Alzheimers Dis 2021 ;79(3):1203-1211

Epidemiology and Public Health Group, University of Exeter Medical School, Exeter, UK.

Background: Brain iron deposition occurs in dementia. In European ancestry populations, the HFE p.C282Y variant can cause iron overload and hemochromatosis, mostly in homozygous males. Read More

Abdom Radiol (NY) 2021 Jan 2. Epub 2021 Jan 2.

Department of Radiology, Radiation Oncology and Nuclear Medicine, Université de Montréal, Montréal, Canada.

Purpose: R2* relaxometry is a quantitative method for assessment of iron overload. The purpose is to analyze the cross-sectional relationships between R2* in organs across patients with primary and secondary iron overload. Secondary analyses were conducted to analyze R2* according to treatment regimen. Read More

World J Clin Cases 2020 Dec;8(23):5962-5975

Shengli Clinical Medical College, Fujian Medical University, Fuzhou 350001, Fujian Province, China.

Background: It is not easy to identify the cause of various iron overload diseases because the phenotypes overlap. Therefore, it is important to perform genetic testing to determine the genetic background of patients.

Aim: To investigate the genetic background of a patient with hemochromatosis complicated by psoriasis on both lower extremities. Read More

Br J Haematol 2020 11;191(4):587-592

Department of Haematology, University College London, London, UK.

Since the inception of the British Society for Haematology (BSH) 60 years ago, our increased scientific understanding of iron metabolism, together with clinical developments, have changed the way we diagnose and treat its disorders. In the UK, perhaps the most notable contributions relate to iron overload, some of which I will outline from personal experience. Diagnostically, this began with the identification of serum ferritin as a marker of iron overload and continued later with the application of MRI-based imaging techniques for iron and its distribution. Read More

Sci Rep 2020 10 21;10(1):17887. Epub 2020 Oct 21.

Department of Gastroenterology and Hepatology with Internal Disease Unit, Teaching Hospital No. 1, Rzeszow, Poland.

Iron overload is a relatively common clinical condition resulting from disorders such as hereditary hemochromatosis, thalassemia, sickle cell disease, and myelodysplasia that can lead to progressive fibrosis and eventually cirrhosis of the liver. Therefore, it is essential to recognize the disease process at the earliest stage. Liver biopsy is the reference test for the assessment of liver fibrosis. Read More

Hypertension 2020 11 28;76(5):1444-1450. Epub 2020 Sep 28.

From the Clinica Medica, Department of Medicine and Surgery, University of Milano-Bicocca, Italy (G.S., R.D., F.Q.-T., G.G.).

Iron overload has been recently shown to be associated with a hyperadrenergic state in genetic hemochromatosis. Whether this is also the case in essential hypertension, characterized by sympathetic activation and frequently by body iron overload, is unknown. In 17 healthy normotensive controls (age 52. Read More

Semin Ultrasound CT MR 2020 Oct 28;41(5):451-461. Epub 2020 May 28.

Department of Radiology, University of Texas Southwestern School of Medicine, Dallas, TX.

Recent advances in magnetic resonance imaging (MRI) technology have moved imaging beyond anatomical assessment to characterization of tissue composition. There are now clinically validated MRI-based quantitative techniques for assessing liver fat, iron, and fibrosis, and MRI is now routinely used in metabolic liver disease evaluation in both pediatric and adult patients. These MRI techniques provide noninvasive quantitation of liver metabolic biomarkers that are increasingly relied upon in the clinical management of pediatric patients with nonalcoholic fatty liver disease, metabolic syndrome, and hemochromatosis and/or hemosiderosis. Read More

Macromol Biosci 2020 12 21;20(12):e2000254. Epub 2020 Sep 21.

Institute of Macromolecular Chemistry, Czech Academy of Sciences, Heyrovského náměstí 2, 162 06, Prague 6, Czech Republic.

Hemochromatosis (iron overload) encompasses a group of diseases that are characterized by a toxic hyperaccumulation of iron in parenchymal organs. Currently, only few treatments for this disease have been approved; however, all these treatments possess severe side effects. In this study, a paradigm for hemochromatosis maintenance/preventive therapy is investigated: polymers with negligible systemic biological availability form stable complexes with iron ions in the gastrointestinal tract, which reduces the biological availability of iron. Read More

J Pediatr Hematol Oncol 2021 01;43(1):e26-e28

Hematology Research Center, Shiraz University of Medical Sciences, Shiraz.

Objective: This study was performed on patients with transfusion-dependent beta-thalassemia (TDT) to investigate the effect of HFE gene mutations of iron overload in a large group of patients with TDT major and its relationship with heart and liver T2* magnetic resonance imaging (MRI) level.

Materials And Methods: In a cross-sectional study, a total of 253 patients with TDT who had regular blood transfusion were included in this study. HFE gene mutations including H63D and C282Y were evaluated in all patients through molecular assay. Read More

JAMA 2020 Sep;324(12):1203-1204

Division of Immunology, University of Iowa Hospitals and Clinics, Iowa City.

Radiol Case Rep 2020 Oct 4;15(10):1773-1776. Epub 2020 Aug 4.

Motor Science and Wellness Department, University of Naples "Parthenope", Naples, Italy.

Calcium pyrophosphate deposition disease is characterized by the deposition of pyrophosphate crystals in various joint structures. Calcium pyrophosphate deposition disease can be linked to underlying metabolic disorders such as hemochromatosis, hyperparathyroidism, hypophosphatemia, hypomagnesaemia, and hypothyroidism, all of which increase the risk of calcium pyrophosphate deposition. We present the case of a 55-year-old male who underwent diagnostic examination for the onset of recurrent joint pain in the right knee. Read More

Abdom Radiol (NY) 2020 11 5;45(11):3507-3522. Epub 2020 Aug 5.

Perspectum, 600 N. Pearl St. Suite 1960, Plaza of The Americas, Dallas, TX, 75201, USA.

Accurate diagnosis, monitoring and treatment decisions in patients with chronic liver disease currently rely on biopsy as the diagnostic gold standard, and this has constrained early detection and management of diseases that are both varied and can be concurrent. Recent developments in multiparametric magnetic resonance imaging (mpMRI) suggest real potential to bridge the diagnostic gap between non-specific blood-based biomarkers and invasive and variable histological diagnosis. This has implications for the clinical care and treatment pathway in a number of chronic liver diseases, such as haemochromatosis, steatohepatitis and autoimmune or viral hepatitis. Read More

J Nippon Med Sch 2021 May 1;88(2):138-144. Epub 2020 Aug 1.

Department of Surgery, Nippon Medical School.

Immunoglobulin G4-related disease (IgG4-RD) is a recently characterized illness in which lymphocytes and plasma cells infiltrate various anatomical sites. IgG4-hepatopathy, a manifestation of IgG4-RD, is a broader term covering various patterns of liver injury. The clinical course, including the malignant potential of IgG4-RD, remains unclear. Read More

Rev Cardiovasc Med 2020 Jun;21(2):181-190

Infiltrative Cardiac Disease Program, Division of Cardiology, Rush University Medical Center, Chicago, IL 60612, USA.

Heart failure with preserved ejection fraction is a very common clinical problem. Its prevalence is increasing with aging of the population. A diverse group of risk factors and etiologies comprise the HFpEF syndrome. Read More

Med Mol Morphol 2021 Mar 30;54(1):60-67. 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

Int J Cardiol 2020 Oct 5;317:96-102. Epub 2020 Jun 5.

Pediatric Cardiology Unit, Soroka University Medical Center and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel.

Background: Congenital dyserythropoietic anemia type 1 (CDA1) is a rare autosomal recessive disease characterized by macrocytic anemia, ineffective erythropoiesis, and secondary hemochromatosis. Left-ventricular noncompaction (LVNC) is a cardiomyopathy that is commonly attributed to intrauterine arrest of normal compaction during the endomyocardial morphogenesis. LV hypertrabeculation/noncompaction (LVHT/NC) morphology, however, might exist in various hemoglobinopathies. Read More

Abdom Radiol (NY) 2020 11;45(11):3400-3412

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

Kardiol Pol 2020 08 12;78(7-8):786-787. Epub 2020 May 12.

2nd Department of Cardiology and Electrotherapy, Medical University of Gdańsk, Gdańsk, Poland.

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