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Hemochromatosis
Eva M. Escobedo, MD; Stephen Vong, MD; B. J. Manaster, MD, PhD, FACR
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            • Diagnostic Checklist

              TERMINOLOGY

              • Definitions

                • Arthritis associated with hemochromatosis
                  • Hemochromatosis: progressive increase in total body iron stores with abnormal iron deposition in multiple organs

              IMAGING

              • General Features

                • Radiographic Findings

                  • MR Findings

                    DIFFERENTIAL DIAGNOSIS

                      PATHOLOGY

                      • General Features

                        • Gross Pathologic & Surgical Features

                          • Microscopic Features

                            CLINICAL ISSUES

                            • Presentation

                              • Demographics

                                • Natural History & Prognosis

                                  • Treatment

                                    DIAGNOSTIC CHECKLIST

                                    • Consider

                                      • Image Interpretation Pearls

                                        Selected References

                                        1. Scullion S et al: Radiologic imaging of metabolic and endocrine disorders as they affect the hand and wrist. Semin Musculoskelet Radiol. 25(2):246-59, 2021
                                        2. Wijarnpreecha K et al: Hereditary hemochromatosis and risk of joint replacement surgery: a systematic review and meta-analysis. Eur J Gastroenterol Hepatol. 33(1):96-101, 2021
                                        3. Nguyen CD et al: Bone and joint complications in patients with hereditary hemochromatosis: a cross-sectional study of 93 patients. Ther Adv Musculoskelet Dis. 12:1759720X20939405, 2020
                                        4. Elstob A et al: MRI ankle and subtalar characteristics in haemochromatosis arthropathy: a case-control study. Clin Radiol. 73(3):323.e1-8, 2018
                                        5. Richardson A et al: Haemochromatosis: unexplained metacarpophalangeal or ankle arthropathy should prompt diagnostic tests: findings from two UK observational cohort studies. Scand J Rheumatol. 46(1):69-74, 2017
                                        6. 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
                                        7. Husar-Memmer E et al: HFE-related hemochromatosis: an update for the rheumatologist. Curr Rheumatol Rep. 16(1):393, 2014
                                        8. Pascart T et al: Treatment of nongout joint deposition diseases: an update. Arthritis. 2014:375202, 2014
                                        9. Dallos T et al: Idiopathic hand osteoarthritis vs haemochromatosis arthropathy--a clinical, functional and radiographic study. Rheumatology (Oxford). 52(5):910-5, 2013
                                        10. Frenzen K et al: Erosive and inflammatory joint changes in hereditary hemochromatosis arthropathy detected by low-field magnetic resonance imaging. Rheumatol Int. 33(8):2061-7, 2013
                                        11. Duval H et al: Hip involvement in hereditary hemochromatosis: a clinical-pathologic study. Joint Bone Spine. 76(4):412-5, 2009
                                        12. Valenti L et al: The hand arthropathy of hereditary hemochromatosis is strongly associated with iron overload. J Rheumatol. 35(1):153-8, 2008
                                        13. Zafar S et al: Atypical arthritis due to combined hereditary hemochromatosis and active hepatitis C. J Clin Rheumatol. 14(1):21-3, 2008
                                        14. Davies MB et al: Ankle arthropathy of hemochromatosis: a case series and review of the literature. Foot Ankle Int. 27(11):902-6, 2006
                                        Related Anatomy
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                                        Related Differential Diagnoses
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                                        References
                                        Tables

                                        Tables

                                        KEY FACTS

                                        • Terminology

                                          • Imaging

                                            • Top Differential Diagnoses

                                              • Pathology

                                                • Clinical Issues

                                                  • Diagnostic Checklist

                                                    TERMINOLOGY

                                                    • Definitions

                                                      • Arthritis associated with hemochromatosis
                                                        • Hemochromatosis: progressive increase in total body iron stores with abnormal iron deposition in multiple organs

                                                    IMAGING

                                                    • General Features

                                                      • Radiographic Findings

                                                        • MR Findings

                                                          DIFFERENTIAL DIAGNOSIS

                                                            PATHOLOGY

                                                            • General Features

                                                              • Gross Pathologic & Surgical Features

                                                                • Microscopic Features

                                                                  CLINICAL ISSUES

                                                                  • Presentation

                                                                    • Demographics

                                                                      • Natural History & Prognosis

                                                                        • Treatment

                                                                          DIAGNOSTIC CHECKLIST

                                                                          • Consider

                                                                            • Image Interpretation Pearls

                                                                              Selected References

                                                                              1. Scullion S et al: Radiologic imaging of metabolic and endocrine disorders as they affect the hand and wrist. Semin Musculoskelet Radiol. 25(2):246-59, 2021
                                                                              2. Wijarnpreecha K et al: Hereditary hemochromatosis and risk of joint replacement surgery: a systematic review and meta-analysis. Eur J Gastroenterol Hepatol. 33(1):96-101, 2021
                                                                              3. Nguyen CD et al: Bone and joint complications in patients with hereditary hemochromatosis: a cross-sectional study of 93 patients. Ther Adv Musculoskelet Dis. 12:1759720X20939405, 2020
                                                                              4. Elstob A et al: MRI ankle and subtalar characteristics in haemochromatosis arthropathy: a case-control study. Clin Radiol. 73(3):323.e1-8, 2018
                                                                              5. Richardson A et al: Haemochromatosis: unexplained metacarpophalangeal or ankle arthropathy should prompt diagnostic tests: findings from two UK observational cohort studies. Scand J Rheumatol. 46(1):69-74, 2017
                                                                              6. 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
                                                                              7. Husar-Memmer E et al: HFE-related hemochromatosis: an update for the rheumatologist. Curr Rheumatol Rep. 16(1):393, 2014
                                                                              8. Pascart T et al: Treatment of nongout joint deposition diseases: an update. Arthritis. 2014:375202, 2014
                                                                              9. Dallos T et al: Idiopathic hand osteoarthritis vs haemochromatosis arthropathy--a clinical, functional and radiographic study. Rheumatology (Oxford). 52(5):910-5, 2013
                                                                              10. Frenzen K et al: Erosive and inflammatory joint changes in hereditary hemochromatosis arthropathy detected by low-field magnetic resonance imaging. Rheumatol Int. 33(8):2061-7, 2013
                                                                              11. Duval H et al: Hip involvement in hereditary hemochromatosis: a clinical-pathologic study. Joint Bone Spine. 76(4):412-5, 2009
                                                                              12. Valenti L et al: The hand arthropathy of hereditary hemochromatosis is strongly associated with iron overload. J Rheumatol. 35(1):153-8, 2008
                                                                              13. Zafar S et al: Atypical arthritis due to combined hereditary hemochromatosis and active hepatitis C. J Clin Rheumatol. 14(1):21-3, 2008
                                                                              14. Davies MB et al: Ankle arthropathy of hemochromatosis: a case series and review of the literature. Foot Ankle Int. 27(11):902-6, 2006