Intervention
Measurement of hepatic iron concentration is most accurately performed by liver biopsy.25 This is frequently performed with ultrasound or CT guidance. However, errors in this measurement can occur, often caused by inadequate sample size, sampling error, contamination, or laboratory error. In addition, hepatic biopsy samples only a small area of liver, while MR images the entire liver.14,15,16,17,18
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References
Schranz M, Talasz H, Graziadei I, Winder T, Sergi C, Bogner K, et al. Diagnosis of hepatic iron overload: a family study illustrating pitfalls in diagnosing hemochromatosis. Diagn Mol Pathol. Mar 2009;18(1):53-60. [Medline].
Pietrangelo A. Inherited metabolic disease of the liver. Curr Opin Gastroenterol. Apr 1 2009;[Medline].
Picot J, Bryant J, Cooper K, Clegg A, Roderick P, Rosenberg W, et al. Psychosocial aspects of DNA testing for hereditary hemochromatosis in at-risk individuals: a systematic review. Genet Test Mol Biomarkers. Feb 2009;13(1):7-14. [Medline].
Phatak PD, Sham RL, Raubertas RF. Prevalence of hereditary hemochromatosis in 16031 primary care patients. Ann Intern Med. Dec 1 1998;129(11):954-61. [Medline].
Gao J, Chen J, Kramer M, Tsukamoto H, Zhang AS, Enns CA. Interaction of the hereditary hemochromatosis protein HFE with transferrin receptor 2 is required for transferrin-induced hepcidin expression. Cell Metab. Mar 2009;9(3):217-27. [Medline].
Deugnier Y, Bourgain C, Mosser J. [Acquired and genetic factors influencing the penetrance of HFE haemochromatosis]. Bull Acad Natl Med. May 2008;192(5):873-81; discussion 881. [Medline].
Bartolo C, McAndrew PE, Sosolik RC. Differential diagnosis of hereditary hemochromatosis from other liver disorders by genetic analysis: gene mutation analysis of patients previously diagnosed with hemochromatosis by liver biopsy. Arch Pathol Lab Med. Jul 1998;122(7):633-7. [Medline].
Mair SM, Weiss G. New pharmacological concepts for the treatment of iron overload disorders. Curr Med Chem. 2009;16(5):576-90. [Medline].
Howard JM, Ghent CN, Carey LS. Diagnostic efficacy of hepatic computed tomography in the detection of body iron overload. Gastroenterology. Feb 1983;84(2):209-15. [Medline].
Jensen PD, Jensen FT, Christensen T. Evaluation of transfusional iron overload before and during iron chelation by magnetic resonance imaging of the liver and determination of serum ferritin in adult non-thalassaemic patients. Br J Haematol. Apr 1995;89(4):880-9. [Medline].
Villari N, Caramella D, Lippi A. Assessment of liver iron overload in thalassemic patients by MR imaging. Acta Radiol. Jul 1992;33(4):347-50. [Medline].
[Best Evidence] McLeod C, Fleeman N, Kirkham J, Bagust A, Boland A, Chu P, et al. Deferasirox for the treatment of iron overload associated with regular blood transfusions (transfusional haemosiderosis) in patients suffering with chronic anaemia: a systematic review and economic evaluation. Health Technol Assess. Jan 2009;13(1):iii-iv, ix-xi, 1-121. [Medline].
Flyer MA, Haller JO, Sundaram R. Transfusional hemosiderosis in sickle cell anemia: another cause of an echogenic pancreas. Pediatric Radiology. 1993;23(2):140-2.
Wang X, Leiendecker-Foster C, Acton RT, Barton JC, McLaren CE, McLaren GD, et al. Heme carrier protein 1 (HCP1) genetic variants in the Hemochromatosis and Iron Overload Screening (HEIRS) Study participants. Blood Cells Mol Dis. Mar-Apr 2009;42(2):150-4. [Medline].
Pedersen P, Milman N. Genetic screening for HFE hemochromatosis in 6,020 Danish men: penetrance of C282Y, H63D, and S65C variants. Ann Hematol. Jan 22 2009;[Medline].
Phatak PD, Bonkovsky HL, Kowdley KV. Hereditary hemochromatosis: time for targeted screening. Ann Intern Med. Aug 19 2008;149(4):270-2. [Medline].
Adams PC, Reboussin DM, Barton JC, Acton RT, Speechley M, Leiendecker-Foster C, et al. Serial serum ferritin measurements in untreated HFE C282Y homozygotes in the Hemochromatosis and Iron Overload Screening Study. Int J Lab Hematol. Aug 2008;30(4):300-5. [Medline].
Acton RT, Barton JC, Passmore LV, Adams PC, McLaren GD, Leiendecker-Foster C, et al. Accuracy of family history of hemochromatosis or iron overload: the hemochromatosis and iron overload screening study. Clin Gastroenterol Hepatol. Aug 2008;6(8):934-8. [Medline].
Kawamoto S, Soyer PA, Fishman EK. Nonneoplastic liver disease: evaluation with CT and MR imaging. Radiographics. Jul-Aug 1998;18(4):827-48. [Medline].
Alustiza JM, Artetxe J, Castiella A, et al. MR quantification of hepatic iron concentration. Radiology. Feb 2004;230(2):479-84. [Medline].
Bonkovsky HL, Rubin RB, Cable EE. Hepatic iron concentration: noninvasive estimation by means of MR imaging techniques. Radiology. Jul 1999;212(1):227-34. [Medline].
Gandon Y, Guyader D, Heautot JF. Hemochromatosis: diagnosis and quantification of liver iron with gradient-echo MR imaging. Radiology. Nov 1994;193(2):533-8. [Medline].
Siegelman ES, Mitchell DG, Outwater E. Idiopathic hemochromatosis: MR imaging findings in cirrhotic and precirrhotic patients. Radiology. Sep 1993;188(3):637-41. [Medline].
Siegelman ES, Mitchell DG, Semelka RC. Abdominal iron deposition: metabolism, MR findings, and clinical importance. Radiology. Apr 1996;199(1):13-22. [Medline].
Villeneuve JP, Bilodeau M, Lepage R. Variability in hepatic iron concentration measurement from needle- biopsy specimens. J Hepatol. Aug 1996;25(2):172-7. [Medline].
Further Reading
Clinical guidelines
Screening for hemochromatosis: recommendation statement.
United States Preventive Services Task Force - Independent Expert Panel. 2006. 5 pages. NGC:004959
Screening for hereditary hemochromatosis: a clinical practice guideline from the American College of Physicians.
American College of Physicians - Medical Specialty Society. 2005 Oct 4. 5 pages. NGC:004540
AASLD practice guidelines: evaluation of the patient for liver transplantation.
American Association for the Study of Liver Diseases - Private Nonprofit Research Organization. 2000 Jan (revised 2005 Jun). 26 pages. NGC:004333
Clinical trials
Treatment of Hemochromatosis
Erythrocyte Apheresis Versus Phlebotomy in Hemochromatosis
Oral Nifedipine to Treat Iron Overload
Related eMedicine topics
Hemochromatosis (Dermatology)
Hemochromatosis (Gastroenterology)
Hemochromatosis, Neonatal
Transfusion-Induced Iron Overload
Keywords
hemochromatosis, haemochromatosis, hereditary hemochromatosis, primary hemochromatosis, secondary hemochromatosis, idiopathic hemochromatosis, hemosiderosis, iron overload, iron toxicity
Follow-up: Hemochromatosis