eMedicine Specialties > Radiology > Gastrointestinal

Hemochromatosis: Follow-up

Author: Sandor Joffe, MD, Section Chief of Abdominal Imaging, Department of Radiology, Beth Israel Medical Center
Contributor Information and Disclosures

Updated: May 8, 2009

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

 


More on Hemochromatosis

Overview: Hemochromatosis
Imaging: Hemochromatosis
Follow-up: Hemochromatosis
Multimedia: Hemochromatosis
References
Further Reading

References

  1. 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].

  2. Pietrangelo A. Inherited metabolic disease of the liver. Curr Opin Gastroenterol. Apr 1 2009;[Medline].

  3. 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].

  4. 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].

  5. 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].

  6. 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].

  7. 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].

  8. Mair SM, Weiss G. New pharmacological concepts for the treatment of iron overload disorders. Curr Med Chem. 2009;16(5):576-90. [Medline].

  9. 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].

  10. 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].

  11. 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].

  12. [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].

  13. 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.

  14. 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].

  15. 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].

  16. Phatak PD, Bonkovsky HL, Kowdley KV. Hereditary hemochromatosis: time for targeted screening. Ann Intern Med. Aug 19 2008;149(4):270-2. [Medline].

  17. 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].

  18. 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].

  19. Kawamoto S, Soyer PA, Fishman EK. Nonneoplastic liver disease: evaluation with CT and MR imaging. Radiographics. Jul-Aug 1998;18(4):827-48. [Medline].

  20. Alustiza JM, Artetxe J, Castiella A, et al. MR quantification of hepatic iron concentration. Radiology. Feb 2004;230(2):479-84. [Medline].

  21. 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].

  22. 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].

  23. Siegelman ES, Mitchell DG, Outwater E. Idiopathic hemochromatosis: MR imaging findings in cirrhotic and precirrhotic patients. Radiology. Sep 1993;188(3):637-41. [Medline].

  24. Siegelman ES, Mitchell DG, Semelka RC. Abdominal iron deposition: metabolism, MR findings, and clinical importance. Radiology. Apr 1996;199(1):13-22. [Medline].

  25. 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

Contributor Information and Disclosures

Author

Sandor Joffe, MD, Section Chief of Abdominal Imaging, Department of Radiology, Beth Israel Medical Center
Sandor Joffe, MD is a member of the following medical societies: American College of Radiology, American Roentgen Ray Society, and Radiological Society of North America
Disclosure: Nothing to disclose.

Medical Editor

Neela Lamki, MD, Professor, Department of Radiology, Sultan Qaboos University, Oman; Adjunct Professor, Department of Radiology, Baylor College of Medicine
Disclosure: Nothing to disclose.

Pharmacy Editor

Bernard D Coombs, MB, ChB, PhD, Consulting Staff, Department of Specialist Rehabilitation Services, Hutt Valley District Health Board, New Zealand
Disclosure: Nothing to disclose.

Managing Editor

Udo P Schmiedl, MD, PhD, Clinical Professor, Department of Radiology, University of Washington; Consulting Staff, Swedish Medical Center, University of Washington Medical Center, Seattle Radiologists
Udo P Schmiedl, MD, PhD is a member of the following medical societies: American College of Radiology and Radiological Society of North America
Disclosure: Nothing to disclose.

CME Editor

Robert M Krasny, MD, Consulting Staff, Department of Radiology, Resolution Imaging Medical Corporation
Robert M Krasny, MD is a member of the following medical societies: American Roentgen Ray Society and Radiological Society of North America
Disclosure: Nothing to disclose.

Chief Editor

John Karani, MBBS, FRCR, Clinical Director of Radiology and Consultant Radiologist, Department of Radiology, King's College Hospital, London
John Karani, MBBS, FRCR is a member of the following medical societies: British Institute of Radiology, British Society of Interventional Radiology, Cardiovascular and Interventional Radiological Society of Europe, European Society of Gastrointestinal and Abdominal Radiology, European Society of Radiology, Radiological Society of North America, and Royal College of Radiologists
Disclosure: Nothing to disclose.

 
 
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