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Hemochromatosis
Atif Zaheer, MD; 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: ↑ 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. França M et al: MR imaging assessment and quantification of liver iron. Abdom Radiol (NY). 45(11):3400-12, 2020
                                        2. Kowdley KV et al: ACG clinical guideline: hereditary hemochromatosis. Am J Gastroenterol. 114(8):1202-18, 2019
                                        3. Yamauchi R et al: Hepatocellular carcinoma arising in a non-cirrhotic liver with secondary hemochromatosis. Intern Med. 58(5):661-5, 2019
                                        4. Golfeyz S et al: Hemochromatosis: pathophysiology, evaluation, and management of hepatic iron overload with a focus on MRI. Expert Rev Gastroenterol Hepatol. 12(8):767-78, 2018
                                        5. Labranche R et al: Liver iron quantification with mr imaging: a primer for radiologists. Radiographics. 38(2):392-412, 2018
                                        6. Radford-Smith DE et al: Haemochromatosis: a clinical update for the practising physician. Intern Med J. 48(5):509-16, 2018
                                        7. Ros PR et al: Imaging of diffuse and inflammatory liver disease, 2018
                                        8. Yan F et al: Iron deposition quantification: applications in the brain and liver. J Magn Reson Imaging. 48(2):301-17, 2018
                                        9. Sharma SD et al: MRI-based quantitative susceptibility mapping (QSM) and R2* mapping of liver iron overload: comparison with SQUID-based biomagnetic liver susceptometry. Magn Reson Med. 78(1):264-70, 2017
                                        10. Ekanayake D et al: Recent advances in hemochromatosis: a 2015 update: a summary of proceedings of the 2014 conference held under the auspices of Hemochromatosis Australia. Hepatol Int. 9(2):174-82, 2015
                                        11. Salgia RJ et al: Diagnosis and management of hereditary hemochromatosis. Clin Liver Dis. 19(1):187-98, 2015
                                        12. Leitman SF: Hemochromatosis: the new blood donor. Hematology Am Soc Hematol Educ Program. 2013:645-50, 2013
                                        13. Sirlin CB et al: Magnetic resonance imaging quantification of liver iron. Magn Reson Imaging Clin N Am. 18(3):359-81, 2010
                                        14. Queiroz-Andrade M et al: MR imaging findings of iron overload. Radiographics. 29(6):1575-89, 2009
                                        15. Bassett ML et al: The changing role of liver biopsy in diagnosis and management of haemochromatosis. Pathology. 43(5):433-9, 2011
                                        16. Babitt JL et al: The molecular pathogenesis of hereditary hemochromatosis. Semin Liver Dis. 31(3):280-92, 2011
                                        17. Deugnier Y et al: Pathology of hepatic iron overload. Semin Liver Dis. 31(3):260-71, 2011
                                        18. Gan EK et al: Natural history and management of HFE-hemochromatosis. Semin Liver Dis. 31(3):293-301, 2011
                                        19. 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
                                        20. Thachil J: Screening strategies for hemochromatosis. Ann Intern Med. 150(8):566, 2009
                                        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: ↑ 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. França M et al: MR imaging assessment and quantification of liver iron. Abdom Radiol (NY). 45(11):3400-12, 2020
                                                                              2. Kowdley KV et al: ACG clinical guideline: hereditary hemochromatosis. Am J Gastroenterol. 114(8):1202-18, 2019
                                                                              3. Yamauchi R et al: Hepatocellular carcinoma arising in a non-cirrhotic liver with secondary hemochromatosis. Intern Med. 58(5):661-5, 2019
                                                                              4. Golfeyz S et al: Hemochromatosis: pathophysiology, evaluation, and management of hepatic iron overload with a focus on MRI. Expert Rev Gastroenterol Hepatol. 12(8):767-78, 2018
                                                                              5. Labranche R et al: Liver iron quantification with mr imaging: a primer for radiologists. Radiographics. 38(2):392-412, 2018
                                                                              6. Radford-Smith DE et al: Haemochromatosis: a clinical update for the practising physician. Intern Med J. 48(5):509-16, 2018
                                                                              7. Ros PR et al: Imaging of diffuse and inflammatory liver disease, 2018
                                                                              8. Yan F et al: Iron deposition quantification: applications in the brain and liver. J Magn Reson Imaging. 48(2):301-17, 2018
                                                                              9. Sharma SD et al: MRI-based quantitative susceptibility mapping (QSM) and R2* mapping of liver iron overload: comparison with SQUID-based biomagnetic liver susceptometry. Magn Reson Med. 78(1):264-70, 2017
                                                                              10. Ekanayake D et al: Recent advances in hemochromatosis: a 2015 update: a summary of proceedings of the 2014 conference held under the auspices of Hemochromatosis Australia. Hepatol Int. 9(2):174-82, 2015
                                                                              11. Salgia RJ et al: Diagnosis and management of hereditary hemochromatosis. Clin Liver Dis. 19(1):187-98, 2015
                                                                              12. Leitman SF: Hemochromatosis: the new blood donor. Hematology Am Soc Hematol Educ Program. 2013:645-50, 2013
                                                                              13. Sirlin CB et al: Magnetic resonance imaging quantification of liver iron. Magn Reson Imaging Clin N Am. 18(3):359-81, 2010
                                                                              14. Queiroz-Andrade M et al: MR imaging findings of iron overload. Radiographics. 29(6):1575-89, 2009
                                                                              15. Bassett ML et al: The changing role of liver biopsy in diagnosis and management of haemochromatosis. Pathology. 43(5):433-9, 2011
                                                                              16. Babitt JL et al: The molecular pathogenesis of hereditary hemochromatosis. Semin Liver Dis. 31(3):280-92, 2011
                                                                              17. Deugnier Y et al: Pathology of hepatic iron overload. Semin Liver Dis. 31(3):260-71, 2011
                                                                              18. Gan EK et al: Natural history and management of HFE-hemochromatosis. Semin Liver Dis. 31(3):293-301, 2011
                                                                              19. 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
                                                                              20. Thachil J: Screening strategies for hemochromatosis. Ann Intern Med. 150(8):566, 2009