Iron overload disorders
Abstract Iron overload disorders represent a variety of conditions that lead to increased total body iron stores and resultant end‐organ damage. An elevated ferritin and transferrin‐iron saturation can be commonly encountered in the evaluation of elevated liver enzymes. Confirmatory homeostatic iron...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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Wolters Kluwer Health/LWW
2022-08-01
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| Series: | Hepatology Communications |
| Online Access: | https://doi.org/10.1002/hep4.2012 |
| _version_ | 1797758622721114112 |
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| author | Christine C. Hsu Nizar H. Senussi Kleber Y. Fertrin Kris V. Kowdley |
| author_facet | Christine C. Hsu Nizar H. Senussi Kleber Y. Fertrin Kris V. Kowdley |
| author_sort | Christine C. Hsu |
| collection | DOAJ |
| description | Abstract Iron overload disorders represent a variety of conditions that lead to increased total body iron stores and resultant end‐organ damage. An elevated ferritin and transferrin‐iron saturation can be commonly encountered in the evaluation of elevated liver enzymes. Confirmatory homeostatic iron regulator (HFE) genetic testing for C282Y and H63D, mutations most encountered in hereditary hemochromatosis, should be pursued in evaluation of hyperferritinemia. Magnetic resonance imaging with quantitative assessment of iron content or liver biopsy (especially if liver disease is a cause of iron overload) should be used as appropriate. A secondary cause for iron overload should be considered if HFE genetic testing is negative for the C282Y homozygous or C282Y/H63D compound heterozygous mutations. Differential diagnosis of secondary iron overload includes hematologic disorders, iatrogenic causes, or chronic liver diseases. More common hematologic disorders include thalassemia syndromes, myelodysplastic syndrome, myelofibrosis, sideroblastic anemias, sickle cell disease, or pyruvate kinase deficiency. If iron overload has been excluded, evaluation for causes of hyperferritinemia should be pursued. Causes of hyperferritinemia include chronic liver disease, malignancy, infections, kidney failure, and rheumatic conditions, such as adult‐onset Still's disease or hemophagocytic lymphohistiocytosis. In this review, we describe the diagnostic testing of patients with suspected hereditary hemochromatosis, the evaluation of patients with elevated serum ferritin levels, and signs of secondary overload and treatment options for those with secondary iron overload. |
| first_indexed | 2024-03-12T18:32:41Z |
| format | Article |
| id | doaj.art-2276650b0e874dbf974fcd02e4dc5f05 |
| institution | Directory Open Access Journal |
| issn | 2471-254X |
| language | English |
| last_indexed | 2024-03-12T18:32:41Z |
| publishDate | 2022-08-01 |
| publisher | Wolters Kluwer Health/LWW |
| record_format | Article |
| series | Hepatology Communications |
| spelling | doaj.art-2276650b0e874dbf974fcd02e4dc5f052023-08-02T08:12:18ZengWolters Kluwer Health/LWWHepatology Communications2471-254X2022-08-01681842185410.1002/hep4.2012Iron overload disordersChristine C. Hsu0Nizar H. Senussi1Kleber Y. Fertrin2Kris V. Kowdley3Medstar Georgetown University Hospital Medstar Georgetown Transplant Institute Washington District of Columbia USAGastroenterology and Hepatology University of New Mexico Albuquerque New Mexico USADivision of Hematology Department of Medicine University of Washington Washington USALiver Institute Northwest and Elson S. Floyd College of Medicine Washington State University Washington USAAbstract Iron overload disorders represent a variety of conditions that lead to increased total body iron stores and resultant end‐organ damage. An elevated ferritin and transferrin‐iron saturation can be commonly encountered in the evaluation of elevated liver enzymes. Confirmatory homeostatic iron regulator (HFE) genetic testing for C282Y and H63D, mutations most encountered in hereditary hemochromatosis, should be pursued in evaluation of hyperferritinemia. Magnetic resonance imaging with quantitative assessment of iron content or liver biopsy (especially if liver disease is a cause of iron overload) should be used as appropriate. A secondary cause for iron overload should be considered if HFE genetic testing is negative for the C282Y homozygous or C282Y/H63D compound heterozygous mutations. Differential diagnosis of secondary iron overload includes hematologic disorders, iatrogenic causes, or chronic liver diseases. More common hematologic disorders include thalassemia syndromes, myelodysplastic syndrome, myelofibrosis, sideroblastic anemias, sickle cell disease, or pyruvate kinase deficiency. If iron overload has been excluded, evaluation for causes of hyperferritinemia should be pursued. Causes of hyperferritinemia include chronic liver disease, malignancy, infections, kidney failure, and rheumatic conditions, such as adult‐onset Still's disease or hemophagocytic lymphohistiocytosis. In this review, we describe the diagnostic testing of patients with suspected hereditary hemochromatosis, the evaluation of patients with elevated serum ferritin levels, and signs of secondary overload and treatment options for those with secondary iron overload.https://doi.org/10.1002/hep4.2012 |
| spellingShingle | Christine C. Hsu Nizar H. Senussi Kleber Y. Fertrin Kris V. Kowdley Iron overload disorders Hepatology Communications |
| title | Iron overload disorders |
| title_full | Iron overload disorders |
| title_fullStr | Iron overload disorders |
| title_full_unstemmed | Iron overload disorders |
| title_short | Iron overload disorders |
| title_sort | iron overload disorders |
| url | https://doi.org/10.1002/hep4.2012 |
| work_keys_str_mv | AT christinechsu ironoverloaddisorders AT nizarhsenussi ironoverloaddisorders AT kleberyfertrin ironoverloaddisorders AT krisvkowdley ironoverloaddisorders |