link
Bookmarks
Iron Overload Syndromes
Franklin Dana, MD; John D. Grizzard, MD
To access 4,300 diagnoses written by the world's leading experts in radiology, please log in or subscribe.Log inSubscribe
0
4
0
0

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

                                1. 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
                                2. 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
                                3. Siddique A et al: Review article: the iron overload syndromes. Aliment Pharmacol Ther. 35(8):876-93, 2012
                                4. Carpenter JP et al: On T2* magnetic resonance and cardiac iron. Circulation. 123(14):1519-28, 2011
                                5. Alexander J et al: HFE-associated hereditary hemochromatosis. Genet Med. 11(5):307-13, 2009
                                6. Kirk P et al: Cardiac T2* magnetic resonance for prediction of cardiac complications in thalassemia major. Circulation. 120(20):1961-8, 2009
                                7. 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
                                8. 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
                                9. 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
                                Loading...
                                Related Differential Diagnoses
                                Loading...
                                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

                                                              1. 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
                                                              2. 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
                                                              3. Siddique A et al: Review article: the iron overload syndromes. Aliment Pharmacol Ther. 35(8):876-93, 2012
                                                              4. Carpenter JP et al: On T2* magnetic resonance and cardiac iron. Circulation. 123(14):1519-28, 2011
                                                              5. Alexander J et al: HFE-associated hereditary hemochromatosis. Genet Med. 11(5):307-13, 2009
                                                              6. Kirk P et al: Cardiac T2* magnetic resonance for prediction of cardiac complications in thalassemia major. Circulation. 120(20):1961-8, 2009
                                                              7. 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
                                                              8. 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
                                                              9. 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