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Hemochromatosis
Michael P. Federle, MD, FACR
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Diagnostic Checklist

            TERMINOLOGY

            • Definitions

              • Iron overload disorder in which there is structural and functional impairment of involved organs
              • Hemosiderosis
                • Increased iron deposition without organ damage
                • Usually seen with body iron stores of 10-20 g

            IMAGING

            • General Features

              • CT Findings

                • MR Findings

                  • Ultrasonographic Findings

                    • Imaging Recommendations

                      DIFFERENTIAL DIAGNOSIS

                        PATHOLOGY

                        • General Features

                          • Gross Pathologic & Surgical Features

                            • Microscopic Features

                              CLINICAL ISSUES

                              • Presentation

                                • Demographics

                                  • Natural History & Prognosis

                                    DIAGNOSTIC CHECKLIST

                                    • Consider

                                      • Image Interpretation Pearls

                                        Selected References

                                        1. Leitman SF: Hemochromatosis: the new blood donor. Hematology Am Soc Hematol Educ Program. 2013:645-50, 2013
                                        2. Sirlin CB et al: Magnetic resonance imaging quantification of liver iron. Magn Reson Imaging Clin N Am. 18(3):359-81, 2010
                                        3. Queiroz-Andrade M et al: MR imaging findings of iron overload. Radiographics. 29(6):1575-89, 2009
                                        4. Bassett ML et al: The changing role of liver biopsy in diagnosis and management of haemochromatosis. Pathology. 43(5):433-9, 2011
                                        5. Babitt JL et al: The molecular pathogenesis of hereditary hemochromatosis. Semin Liver Dis. 31(3):280-92, 2011
                                        6. Deugnier Y et al: Pathology of hepatic iron overload. Semin Liver Dis. 31(3):260-71, 2011
                                        7. Gan EK et al: Natural history and management of HFE-hemochromatosis. Semin Liver Dis. 31(3):293-301, 2011
                                        8. Papakonstantinou O et al: Assessment of iron distribution between liver, spleen, pancreas, bone marrow, and myocardium by means of R2 relaxometry with MRI in patients with beta-thalassemia major. J Magn Reson Imaging. 29(4):853-9, 2009
                                        9. Thachil J: Screening strategies for hemochromatosis. Ann Intern Med. 150(8):566, 2009
                                        10. Kim MJ et al: Hepatic iron deposition on magnetic resonance imaging: correlation with inflammatory activity. J Comput Assist Tomogr. 26(6):988-93, 2002
                                        11. Pomerantz S et al: MR imaging of iron depositional disease. Magn Reson Imaging Clin N Am. 10(1):105-20, 2002
                                        12. Bonkovsky HL et al: Hepatic iron concentration: noninvasive estimation by means of MR imaging techniques. Radiology. 212(1):227-34, 1999
                                        13. Ito K et al: Hepatocellular carcinoma: association with increased iron deposition in the cirrhotic liver at MR imaging. Radiology. 212(1):235-40, 1999
                                        14. Ernst O et al: Hepatic iron overload: diagnosis and quantification with MR imaging. AJR Am J Roentgenol. 168(5):1205-8, 1997
                                        Related Anatomy
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                                        Related Differential Diagnoses
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                                        References
                                        Tables

                                        Tables

                                        KEY FACTS

                                        • Terminology

                                          • Imaging

                                            • Top Differential Diagnoses

                                              • Pathology

                                                • Diagnostic Checklist

                                                  TERMINOLOGY

                                                  • Definitions

                                                    • Iron overload disorder in which there is structural and functional impairment of involved organs
                                                    • Hemosiderosis
                                                      • Increased iron deposition without organ damage
                                                      • Usually seen with body iron stores of 10-20 g

                                                  IMAGING

                                                  • General Features

                                                    • CT Findings

                                                      • MR Findings

                                                        • Ultrasonographic Findings

                                                          • Imaging Recommendations

                                                            DIFFERENTIAL DIAGNOSIS

                                                              PATHOLOGY

                                                              • General Features

                                                                • Gross Pathologic & Surgical Features

                                                                  • Microscopic Features

                                                                    CLINICAL ISSUES

                                                                    • Presentation

                                                                      • Demographics

                                                                        • Natural History & Prognosis

                                                                          DIAGNOSTIC CHECKLIST

                                                                          • Consider

                                                                            • Image Interpretation Pearls

                                                                              Selected References

                                                                              1. Leitman SF: Hemochromatosis: the new blood donor. Hematology Am Soc Hematol Educ Program. 2013:645-50, 2013
                                                                              2. Sirlin CB et al: Magnetic resonance imaging quantification of liver iron. Magn Reson Imaging Clin N Am. 18(3):359-81, 2010
                                                                              3. Queiroz-Andrade M et al: MR imaging findings of iron overload. Radiographics. 29(6):1575-89, 2009
                                                                              4. Bassett ML et al: The changing role of liver biopsy in diagnosis and management of haemochromatosis. Pathology. 43(5):433-9, 2011
                                                                              5. Babitt JL et al: The molecular pathogenesis of hereditary hemochromatosis. Semin Liver Dis. 31(3):280-92, 2011
                                                                              6. Deugnier Y et al: Pathology of hepatic iron overload. Semin Liver Dis. 31(3):260-71, 2011
                                                                              7. Gan EK et al: Natural history and management of HFE-hemochromatosis. Semin Liver Dis. 31(3):293-301, 2011
                                                                              8. Papakonstantinou O et al: Assessment of iron distribution between liver, spleen, pancreas, bone marrow, and myocardium by means of R2 relaxometry with MRI in patients with beta-thalassemia major. J Magn Reson Imaging. 29(4):853-9, 2009
                                                                              9. Thachil J: Screening strategies for hemochromatosis. Ann Intern Med. 150(8):566, 2009
                                                                              10. Kim MJ et al: Hepatic iron deposition on magnetic resonance imaging: correlation with inflammatory activity. J Comput Assist Tomogr. 26(6):988-93, 2002
                                                                              11. Pomerantz S et al: MR imaging of iron depositional disease. Magn Reson Imaging Clin N Am. 10(1):105-20, 2002
                                                                              12. Bonkovsky HL et al: Hepatic iron concentration: noninvasive estimation by means of MR imaging techniques. Radiology. 212(1):227-34, 1999
                                                                              13. Ito K et al: Hepatocellular carcinoma: association with increased iron deposition in the cirrhotic liver at MR imaging. Radiology. 212(1):235-40, 1999
                                                                              14. Ernst O et al: Hepatic iron overload: diagnosis and quantification with MR imaging. AJR Am J Roentgenol. 168(5):1205-8, 1997