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Summaries for Patients are a service provided by Annals to help patients better understand the complicated and often mystifying language of modern medicine.
SUMMARIES FOR PATIENTS
Low Serum Ferritin Level Rules Out Advanced Liver Disease in Hemochromatosis
15 April 2003 | Volume 138 Issue 8 | Page I-30
Summaries for Patients are presented for informational purposes only. These summaries are not a substitute for advice from your own medical provider. If you have questions about this material, or need medical advice about your own health or situation, please contact your physician. The summaries may be reproduced for not-for-profit educational purposes only. Any other uses must be approved by the American College of Physicians.
The summary below is from the full report titled "Serum Ferritin Level Predicts Advanced Hepatic Fibrosis among U.S. Patients with Phenotypic Hemochromatosis." It is in the 15 April 2003 issue of Annals of Internal Medicine (volume 138, pages 627-633). The authors are E.D. Morrison, D.J. Brandhagen, P.D. Phatak, J.C. Barton, E.L. Krawitt, H.B. El-Serag, S.C. Gordon, M.V. Galan, B.Y. Tung, G.N. Ioannou, and K.V. Kowdley.
What is the problem and what is known about it so far?
Hemochromatosis is an inherited disorder. It results from an abnormal gene that causes the body to absorb too much iron from food. People with the disorder have high levels of serum ferritin, a measure of body iron stores. The excess iron gradually builds up in many organs, including the liver. As the disease progresses, damage to the liver can lead to permanent scarring (fibrosis and cirrhosis) and liver cancer. Treatment involves avoiding alcohol (because it increases iron absorption and may cause liver damage) and removing excess iron by drawing off pints of blood. Liver cancer occurs mostly in patients who already have advanced liver disease (bridging fibrosis or cirrhosis). Some doctors regularly monitor these patients with ultrasound tests to detect liver cancer. In the past, the diagnosis of advanced fibrosis or cirrhosis has required a liver biopsy. Doctors and patients would appreciate less invasive tests to help identify the patients with advanced liver disease who might need regular monitoring for liver cancer.
Why did the researchers do this particular study?
To see whether the serum ferritin level can help identify patients with hemochromatosis who do or do not have advanced liver disease.
Who was studied?
182 adults with hemochromatosis.
How was the study done?
The researchers reviewed records from six referral centers to identify patients with hemochromatosis. They picked only patients who had no other causes for liver disease and who had liver biopsies and serum ferritin blood tests at the time of diagnosis. The researchers checked the biopsy specimens for findings of advanced liver disease (bridging fibrosis or cirrhosis). They then compared serum ferritin levels in patients with and without advanced liver disease. (Normal serum ferritin levels are 10 to 200 µg/L. Patients with hemochromatosis have levels ranging from 200 to 6000 µg/L.)
What did the researchers find?
Forty patients had advanced liver disease. Most patients with advanced liver disease had serum ferritin levels greater than 1500 µg/L. Only one patient had a serum ferritin level less than 1000 µg/L. Sixty-five percent of the patients without advanced liver disease had serum ferritin levels less than 1000 µg/L.
What were the limitations of the study?
The study was based on records of patients who had been seen at referral centers and who had multiple tests for liver disease. These patients may have had severe disease and may not be typical of most patients with hemochromatosis.
What are the implications of the study?
Patients with hemochromatosis and serum ferritin levels less than 1000 µg/L are unlikely to have advanced liver disease. Liver biopsy to detect advanced liver disease in such patients is probably not needed.
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  J. Waalen, V. J. Felitti, T. Gelbart, and E. Beutler Response: Screening for treatable disease is better than just screening for hemochromatosis Blood, April 1, 2008; 111(7): 3897 - 3897. [Full Text] [PDF]
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J. Waalen, V. J. Felitti, T. Gelbart, and E. Beutler Screening for hemochromatosis by measuring ferritin levels: a more effective approach Blood, April 1, 2008; 111(7): 3373 - 3376. [Abstract] [Full Text] [PDF]
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 L. W. Powell, J. L. Dixon, G. A. Ramm, D. M. Purdie, D. J. Lincoln, G. J. Anderson, V. N. Subramaniam, D. G. Hewett, J. W. Searle, L. M. Fletcher, et al. Screening for hemochromatosis in asymptomatic subjects with or without a family history. Arch Intern Med, February 13, 2006; 166(3): 294 - 301. [Abstract] [Full Text] [PDF]
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 A. Qaseem, M. Aronson, N. Fitterman, V. Snow, K. B. Weiss, D. K. Owens, and for the Clinical Efficacy Assessment Subcommittee Screening for Hereditary Hemochromatosis: A Clinical Practice Guideline from the American College of Physicians Ann Intern Med, October 4, 2005; 143(7): 517 - 521. [Abstract] [Full Text] [PDF]
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B. Schmitt, R. M. Golub, and R. Green Screening Primary Care Patients for Hereditary Hemochromatosis with Transferrin Saturation and Serum Ferritin Level: Systematic Review for the American College of Physicians Ann Intern Med, October 4, 2005; 143(7): 522 - 536. [Abstract] [Full Text] [PDF]
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A. Pietrangelo Hereditary Hemochromatosis -- A New Look at an Old Disease N. Engl. J. Med., June 3, 2004; 350(23): 2383 - 2397. [Full Text] [PDF]
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A. R. Hover, S. M. McDonnell, and W. Burke Changing the Clinical Management of Hereditary Hemochromatosis: Translating Screening and Early Case Detection Strategies Into Clinical Practice Arch Intern Med, May 10, 2004; 164(9): 957 - 961. [Abstract] [Full Text] [PDF]
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Correction: Serum Ferritin Level Predicts Advanced Hepatic Fibrosis among U.S. Patients with Phenotypic Hemochromatosis Ann Intern Med, August 5, 2003; 139(3): 235 - 235. [Full Text] [PDF]
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 Serum Ferritin Level Predicts Fibrosis Stage in Hereditary Hemochromatosis Journal Watch Gastroenterology, May 13, 2003; 2003(513): 7 - 7. [Full Text]
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 E. Beutler, A. V. Hoffbrand, and J. D. Cook Iron Deficiency and Overload Hematology, January 1, 2003; 2003(1): 40 - 61. [Abstract] [Full Text] [PDF]
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