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KEY FACTS
Terminology
Imaging
Top Differential Diagnoses
TERMINOLOGY
Abbreviations
Iron overload syndromes (IOSs)
Definitions
Primary form: Hemochromatosis
Autosomal recessive genetic disorder resulting in abnormal uptake of dietary iron
Progressive increase in total body iron stores with abnormal multiorgan parenchymal iron deposition
Not in reticuloendothelial system
Liver is primary site of abnormal iron deposition (leading to cirrhosis), although abnormal iron deposition can also occur in heart (resulting in cardiomyopathy), pancreas (causing diabetes), or pituitary gland (resulting in hypogonadism)
Cirrhosis and hepatocellular carcinoma are greatly increased in frequency along with heart failure in untreated cases
Secondary form: a.k.a. transfusional siderosis, secondary hemochromatosis, or transfusional iron overload
Results from transfusion therapy used in treatment of hereditary anemias characterized by ineffective erythropoiesis and hemolysis
Thalassemia major and intermedia are most common worldwide
Commonly require 1-2 transfusions/month beginning in early infancy
1 unit of packed cells contains 200-250 mg of iron (normal dietary uptake = 1-2 mg/d)
Cardiac involvement is most common cause of death, with 50% of patients dying before age 35
Excessive iron is initially localized to reticuloendothelial system, but when storage is overwhelmed, iron is deposited in multiple tissues in pattern similar to hemochromatosis
Liver, spleen, and bone marrow are initially involved
Pancreas is initially spared but may become involved later as iron overload progresses
Cardiac involvement is most common cause of death
IMAGING
General Features
Imaging Recommendations
CT Findings
MR Findings
Ultrasonographic Findings
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
Treatment
DIAGNOSTIC CHECKLIST
Consider
Selected References
Pereira NL et al: Spectrum of restrictive and infiltrative cardiomyopathies: part 2 of a 2-part series. J Am Coll Cardiol. 71(10):1149-1166, 2018
Torlasco C et al: Role of T1 mapping as a complementary tool to T2* for non-invasive cardiac iron overload assessment. PLoS One. 13(2):e0192890, 2018
Siddique A et al: Review article: the iron overload syndromes. Aliment Pharmacol Ther. 35(8):876-93, 2012
Carpenter JP et al: On T2* magnetic resonance and cardiac iron. Circulation. 123(14):1519-28, 2011
Alexander J et al: HFE-associated hereditary hemochromatosis. Genet Med. 11(5):307-13, 2009
Kirk P et al: Cardiac T2* magnetic resonance for prediction of cardiac complications in thalassemia major. Circulation. 120(20):1961-8, 2009
Hazirolan T et al: Value of Dual Energy Computed Tomography for detection of myocardial iron deposition in Thalassaemia patients: initial experience. Eur J Radiol. 68(3):442-5, 2008
Modell B et al: Improved survival of thalassaemia major in the UK and relation to T2* cardiovascular magnetic resonance. J Cardiovasc Magn Reson. 10:42, 2008
Anderson LJ et al: Cardiovascular T2-star (T2*) magnetic resonance for the early diagnosis of myocardial iron overload. Eur Heart J. 22(23):2171-9, 2001
Related Anatomy
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Related Differential Diagnoses
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References
Tables
Tables
KEY FACTS
Terminology
Imaging
Top Differential Diagnoses
TERMINOLOGY
Abbreviations
Iron overload syndromes (IOSs)
Definitions
Primary form: Hemochromatosis
Autosomal recessive genetic disorder resulting in abnormal uptake of dietary iron
Progressive increase in total body iron stores with abnormal multiorgan parenchymal iron deposition
Not in reticuloendothelial system
Liver is primary site of abnormal iron deposition (leading to cirrhosis), although abnormal iron deposition can also occur in heart (resulting in cardiomyopathy), pancreas (causing diabetes), or pituitary gland (resulting in hypogonadism)
Cirrhosis and hepatocellular carcinoma are greatly increased in frequency along with heart failure in untreated cases
Secondary form: a.k.a. transfusional siderosis, secondary hemochromatosis, or transfusional iron overload
Results from transfusion therapy used in treatment of hereditary anemias characterized by ineffective erythropoiesis and hemolysis
Thalassemia major and intermedia are most common worldwide
Commonly require 1-2 transfusions/month beginning in early infancy
1 unit of packed cells contains 200-250 mg of iron (normal dietary uptake = 1-2 mg/d)
Cardiac involvement is most common cause of death, with 50% of patients dying before age 35
Excessive iron is initially localized to reticuloendothelial system, but when storage is overwhelmed, iron is deposited in multiple tissues in pattern similar to hemochromatosis
Liver, spleen, and bone marrow are initially involved
Pancreas is initially spared but may become involved later as iron overload progresses
Cardiac involvement is most common cause of death
IMAGING
General Features
Imaging Recommendations
CT Findings
MR Findings
Ultrasonographic Findings
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
Treatment
DIAGNOSTIC CHECKLIST
Consider
Selected References
Pereira NL et al: Spectrum of restrictive and infiltrative cardiomyopathies: part 2 of a 2-part series. J Am Coll Cardiol. 71(10):1149-1166, 2018
Torlasco C et al: Role of T1 mapping as a complementary tool to T2* for non-invasive cardiac iron overload assessment. PLoS One. 13(2):e0192890, 2018
Siddique A et al: Review article: the iron overload syndromes. Aliment Pharmacol Ther. 35(8):876-93, 2012
Carpenter JP et al: On T2* magnetic resonance and cardiac iron. Circulation. 123(14):1519-28, 2011
Alexander J et al: HFE-associated hereditary hemochromatosis. Genet Med. 11(5):307-13, 2009
Kirk P et al: Cardiac T2* magnetic resonance for prediction of cardiac complications in thalassemia major. Circulation. 120(20):1961-8, 2009
Hazirolan T et al: Value of Dual Energy Computed Tomography for detection of myocardial iron deposition in Thalassaemia patients: initial experience. Eur J Radiol. 68(3):442-5, 2008
Modell B et al: Improved survival of thalassaemia major in the UK and relation to T2* cardiovascular magnetic resonance. J Cardiovasc Magn Reson. 10:42, 2008
Anderson LJ et al: Cardiovascular T2-star (T2*) magnetic resonance for the early diagnosis of myocardial iron overload. Eur Heart J. 22(23):2171-9, 2001
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