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Infiltrative Cardiomyopathies
Published in Andreas P. Kalogeropoulos, Hal A. Skopicki, Javed Butler, Heart Failure, 2023
Arthur Qi, Quynh Nguyen, Haran Yogasundaram, Gavin Y. Oudit
Iron studies and genetic testing may be required when primary hemochromatosis is suspected. Serum ferritin is frequently elevated in patients with IOC. Even though serum ferritin is a non-specific marker that correlates poorly with myocardial iron deposition, elevated levels identify those at risk of developing IOC. Plasma B-type natriuretic peptide (BNP) is a useful prognostic marker, especially early in the course of the disease.63 BNP might be elevated in heart failure patients with preserved LVEF before Doppler indices become abnormal.64 Other biochemical tests, such as complete blood count, hemoglobin electrophoresis, and liver function or endocrine tests are helpful in identifying the underlying condition resulting in IOC, as well as evaluating the extent of iron-induced organ dysfunction.42,43
Hematopoiesis and Storage Iron in Infants
Published in Bo Lönnerdal, Iron Metabolism in Infants, 2020
Porter67 discovered that normal human red blood cells contain ferritin protein. More recently it has been documented that this ferritin is more reactive with antibody to heart ferritin than to spleen ferritin.68 Further, adult data indicate that the erythrocyte ferritin might more sensitively measure some forms of storage iron since increased erythrocyte ferritin has been found in subjects with the (β-thalassemia trait, though only in one case was the serum ferritin concentration higher than normal.69 Peters et al. have followed an interesting adult patient with idiopathic hemochromatosis after weekly venesections (Figure 25). In this case, serum ferritin seems to decrease prior to the decrease in erythrocyte heart ferritin which may suggest that these ferritins reflect changes in different iron pools.69 Unfortunately, little is known about erythrocyte ferritin patterns after birth and during infancy.
Teace Elements in Parenteral Nutrition*
Published in Fima Lifshitz, Childhood Nutrition, 2020
Adib A. Moukarzel, Marvin E. Ament
Intravenous iron needs to be provided in patients who are unable to absorb it through the enteral route. Since iron is absorbed proximally in the duodenum and jejunum, a trial of an oral iron preparation should always be given first. Dilute forms of iron dextran have been added to TPN solutions without any serious consequences. If one limits the amount of iron in a single day to what the normal requirements are, there is unlikely to be any problem with its administration. We have seen no consequences with providing 0.5 to 1 mg of an iron dextran preparation daily.17 In order to document that sufficient iron is being provided, serum iron, total iron binding capacity, and percent saturation should be followed. This should prevent secondary hemochromatosis. We are aware of cases in which patients have been given an overdose of iron dextran when doses have been incorrectly administered. This resulted in a development of a secondary hemochromatosis with resultant cirrhosis of the liver.
Platelet counts in HFE p.C282Y/p.C282Y and wt/wt post-screening clinical evaluation participants
Published in Platelets, 2023
James C. Barton, J. Clayborn Barton, Ronald T. Acton
Hemochromatosis in whites of western European descent is associated with homozygosity for p.C282Y (exon 4, c.845 G>A; rs1800562), a common missense allele of the HFE gene (homeostatic iron regulator, chromosome 6p22.2).1,2 HFE, a non-classical class I major histocompatibility complex protein, is an upstream regulator of hepcidin and thus of iron homeostasis.3 Laboratory phenotypes of many adults at diagnosis of HFE p.C282Y/p.C282Y include elevated levels of transferrin saturation (TS) and serum ferritin (SF).4 Adults with p.C282Y/p.C282Y have increased risks to develop iron overload and resulting complications, including arthropathy, diabetes mellitus, hypogonadotropic hypogonadism, hepatic cirrhosis, and cardiomyopathy.4 Severe iron overload and cirrhosis due to hemochromatosis occur predominantly in men.4,5 Non-HFE alleles and environmental factors modify iron loading in adults with hemochromatosis.2,4,6
Hyperferritinemia with iron deposition in the basal ganglia and tremor as the initial manifestation of follicular lymphoma
Published in International Journal of Neuroscience, 2023
Hussein Algahtani, Ahmed Absi, Bader Shirah, Hatim Al-Maghraby, Hussam Algarni
Clinical iron deposition disease is most likely the result of hereditary hemochromatosis, which is an autosomal recessive disorder characterized by increased absorption of intestinal iron, which in some cases can lead to excessive iron stores and end-organ damage. Organs that are mostly known to be affected are the liver, heart, pancreas, skin, joints, and the pituitary gland [11]. Our patient had normal whole-exome sequencing, which should rule out primary hemochromatosis. Iron deposition disease can also be sometimes secondary, and most likely this would be secondary to excessive long-term transfusions and/or ineffective erythropoiesis [12]. Even though ferritin is an acute-phase reactant that can increase with a variety of inflammatory, infectious, and malignant conditions, as far as we are concerned, it is not known to cause secondary hemochromatosis.
Hereditary hemochromatosis: data from a single center Copenhagen cohort
Published in Scandinavian Journal of Gastroenterology, 2022
Rikke Therkildsen, Eva Efsen Dahl, Frank Vinholt Schiødt
In our study, severe organ complications (cirrhosis, late onset type 1 diabetes and/or cardiomyopathy) were not very frequent since they were present in only 6.9% of patients. These findings are in keeping with studies from Australia [29] where cirrhosis was found in 2.7% of patients (2.0% in our study) but lower than a study from Southern France where cirrhosis was found in 9% of patients [6]. A Swedish population-based study reported a 3-fold increased risk of cardiomyopathy in HH patients [13]. Surprisingly, we found that patients with severe organ complications did not have higher age or serum ferritin at debut. However, patients with cirrhosis had a history of alcohol abuse indicating that HH may only have been a cofactor in the development of cirrhosis. However, all patients with cirrhosis had ferritin >1000 ug/L. Compared to the era before 1996 [29–31], severe organ complications are now much less prominent. Before 1996, cases were diagnosed by phenotype only and patients from the pre-1996 era do not represent the same HH spectrum as after 1996. The discovery of the HFE gene means hemochromatosis patients can now be found earlier than before and be treated before severe complications occur. Furthermore, blood testing in general has become more widespread both in the primary and secondary health sector leading to increased detection of high ferritin and TS levels and thereby better awareness of HH at an earlier stage.