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Myocardial Iron Overload in Sickle Cell Disease: A Rare But Potentially Fatal Complication of Transfusion.
Tavares, AHJ, Benites, BD, Fertrin, KY
Transfusion medicine reviews. 2019;(3):170-175
Abstract
Sickle cell disease (SCD) is a frequent indication for chronic transfusion, which can cause iron overload. Excess iron often affects the liver, but not the heart in SCD. Magnetic resonance (MR) is recommended to detect myocardial iron overload (MIO) but its elevated cost requires optimized indication. We aimed to compile all published data on MIO in SCD upon the description of a fatal case of severe MIO in our institution, and to determine associated risk factors. We performed a systematic review using the PRISMA guidelines in two databases (PubMed and Web of Science). Inclusion criteria were publication in English, patients diagnosed with SCD, and reporting ferritin and MIO by MR. Twenty publications reported on 865 SCD adult and pediatric patients, with at least 10 other cases of MIO. The prevalence of MIO in chronically transfused SCD patients can be estimated to be 3% or less, and is associated with high transfusion burden, top-up transfusions, and low adherence to iron chelation. Cardiac siderosis in SCD is rarely reported, and increased awareness with better use of the available screening tools are necessary. Prospective studies should define the recommended chelation regimens depending on the severity of MIO.
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[Approach to the Patient with Elevated Serum Ferritin].
Schreiner, F, Krayenbühl, PA, Goede, J, Nowak, A
Praxis. 2016;(10):543-51; quiz 553-4
Abstract
An increase of the serum ferritin may appear as an incidental finding in asymptomatic patients in the routine laboratory examination. On the one hand, ferritin reflects the iron stores of the body and can therefore indicate an iron overload of various causes. On the other hand, it is an acute phase protein and thus increases in inflammatory and malignant diseases. We aim to describe an approach to the incidental finding hyperferritinemia with possible evaluation strategy and to explain the most important differential diagnoses.
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[A neonate with anaemia of prematurity: zinc protoporphyrin identifies iron deficiency anaemia without iron deficiency].
van der Feen, DE, van Hillegersberg, JL, Schippers, JA
Nederlands tijdschrift voor geneeskunde. 2015;:A8393
Abstract
Anaemia is a common problem in premature infants and is generally easy to treat with iron supplementation. If the anaemia persists despite appropriate correction of deficiencies, more extensive evaluation is required. We describe a case of a premature male infant with a production-deficient anaemia without metabolic deficiencies, eventually identified as anaemia of prematurity. This type of anaemia is commonly diagnosed but its highly variable and complex aetiology and phenotype are often poorly understood. A probable explanation for the anaemia of prematurity in this case was a transient iron incorporation defect, identifiable by high levels of zinc protoporphyrin.
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Aceruloplasminaemia: a rare but important cause of iron overload.
Doyle, A, Rusli, F, Bhathal, P
BMJ case reports. 2015
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Abstract
We present a case of a 20-year-old man referred to our service with iron overload and mildly deranged liver biochemistry. Although liver histopathology was consistent with haemochromatosis, iron studies were not consistent with this diagnosis. Serum ceruloplasmin levels were undetectable, leading to a diagnosis of aceruloplasminaemia. Unlike other iron overload disorders, neurological complications are a unique feature of this illness, and often irreversible, once established. The patient was treated with iron chelation prior to the onset of neurological injury, and experienced progressive normalisation of his ferritin and liver biochemistry. This is one of the youngest diagnosed cases in the published literature and, crucially, was a rare case of diagnosis and treatment prior to the onset of neurological sequelae. This is presented alongside a review of previously published cases of aceruloplasminaemia, including responses to iron chelation therapy.
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A diagnostic approach to hyperferritinemia with a non-elevated transferrin saturation.
Adams, PC, Barton, JC
Journal of hepatology. 2011;(2):453-8
Abstract
Elevated serum ferritin concentrations are common in clinical practice. In this review, we provide an approach to interpreting the serum ferritin elevation in relationship to other clinical parameters including the patient history, transferrin saturation, serum concentrations of alanine, and aspartate aminotransferases (ALT, AST), testing for HFE mutations, liver imaging, liver biopsy, and liver iron concentration. We used observations from a large series of patients with hepatic iron overload documented by liver iron concentration measurement from two referral practices as a gold standard to guide the interpretation of the predictive values of non-invasive iron tests. Three case studies illustrate common problems in interpreting iron blood tests.
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Induction of heme oxygenase-1 and ferritin in the kidney in warm antibody hemolytic anemia.
Fervenza, FC, Croatt, AJ, Bittar, CM, Rosenthal, DW, Lager, DJ, Leung, N, Zeldenrust, SR, Nath, KA
American journal of kidney diseases : the official journal of the National Kidney Foundation. 2008;(5):972-7
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Abstract
Warm antibody autoimmune hemolytic anemia usually is associated with extravascular hemolysis. We report a case of a 42-year-old man with sustained and moderately severe warm antibody autoimmune hemolytic anemia, hemoglobinuria, hemosiderinuria, and acute kidney injury. We show marked induction of heme oxygenase-1 and increased ferritin expression in renal tubules, along with increased iron deposition in renal proximal tubules. These findings in this clinical case thus recapitulate those observed in experimental models of heme protein-induced kidney injury in which a coupled induction of heme oxygenase-1 and ferritin occurs in the kidney. We discuss the pathobiological significance of these findings and suggest that this linked response confers cytoprotection to the kidney exposed to hemoglobin and mitigates the severity of acute kidney injury that may otherwise occur. Finally, this case report documents that nephrotic-range proteinuria can occur in patients with autoimmune hemolytic anemia complicated by hemoglobinuria.
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Liver involvement and abnormal iron variables in undiagnosed Addison's disease.
Rizvi, AA, Kerrick, JG
Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists. 2001;(3):184-8
Abstract
OBJECTIVE To describe a case of untreated Addison's disease manifesting as severe gastrointestinal symptoms, persistently increased liver enzymes, substantially increased ferritin, and hepatic iron deposition and to document changes in these variables after corticosteroid replacement. METHODS We thoroughly reviewed the clinical history and results of laboratory tests before and after treatment in a 23-year-old man during a period of 18 months. The relevant medical literature was also reviewed. RESULTS The study patient had frequent episodes of severe abdominal symptoms, hemodynamic instability, and electrolyte imbalance. He underwent extensive laboratory investigations and was prescribed various treatment regimens. Increased levels of serum transaminases, ferritin, and transferrin saturation led to a liver biopsy, which showed lymphocytic infiltration and increased iron deposition. Eventually, cosyntropin stimulation (250 microg) confirmed the presence of adrenal insufficiency, and these abnormalities resolved after institution of daily administration of glucocorticoids and mineralocorticoids. CONCLUSION Addison's disease can be a cause of unexplained hypertransaminasemia and profoundly increased ferritin levels. These changes are reversible but may lead to diagnostic confusion and delay in commencement of lifesaving corticosteroid therapy.