eMedicine Specialties > Gastroenterology > Systemic Disease

Hemochromatosis: Follow-up

Author: Hady E Sfeir, MD, Clinical Assistant Professor of Medicine, Department of Internal Medicine, OSF St Francis Medical Center
Coauthor(s): David M Klachko, MBBCh, Professor Emeritus, Department of Internal Medicine, Division of Endocrinology, Diabetes and Metabolism, University of Missouri
Contributor Information and Disclosures

Updated: Jul 17, 2008

Follow-up

Further Inpatient Care

  • Admission to ICU may be warranted for patients who develop hepatic, cardiac, and infectious complications.
  • Indications for inpatient care, preferably in an ICU, include the following:

Further Outpatient Care

  • Importantly, the patient should have a primary care provider who can coordinate treatment with the other specialists involved.
  • Regular follow-up visits should be scheduled with the gastroenterologist. Others, such as a cardiologist, an endocrinologist, or a hematologist, may be needed for serial diagnostic and therapeutic intervention.
  • Quarterly visits may be necessary depending on the severity of the symptoms or complications.

Transfer

  • In case of end-stage liver disease refractory to all methods of medical treatment, transferring the patient to a facility experienced in liver transplant is preferable.
  • Transfer the patient to a cancer institution when the diagnosis of hepatocellular carcinoma is being considered or if the diagnosis is confirmed.

Deterrence/Prevention

  • Avoid iron supplements.
  • Consume red meats in moderation.
  • Consume ethanol in moderation.
  • Limit supplemental vitamin C to 500 mg daily.
  • Use mineral supplements for specific deficiencies only.
  • Cook shellfish from warm-water areas.

Complications

Prognosis

  • The most important prognostic factor at the time of diagnosis is the presence or absence of hepatic fibrosis or cirrhosis.
  • Patients without significant hepatic fibrosis may be expected to have a normal life expectancy with phlebotomy therapy.
  • Early diagnosis and therapeutic phlebotomy to maintain low normal body stores can prevent all known complications of hemochromatosis.

Miscellaneous

Medicolegal Pitfalls

  • Failure to recognize that a high ferritin level may be an indicator of iron overload, not just a sign of nonspecific inflammation, especially if accompanied with elevated liver enzymes
  • Failure to perform early genetic testing or liver biopsy to avoid the complications of hemochromatosis
  • Failure to avoid excessive phlebotomy and the risk of hypovolemia and dehydration
  • Failure to promptly refer patients to a gastroenterologist and a liver transplant center in case of end-stage liver disease, especially if refractory to treatment
  • Failure to screen family members
 


More on Hemochromatosis

Overview: Hemochromatosis
Differential Diagnoses & Workup: Hemochromatosis
Treatment & Medication: Hemochromatosis
Follow-up: Hemochromatosis
References
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References

  1. Conrad ME, Umbreit JN, Moore EG. Iron absorption and transport. Am J Med Sci. Oct 1999;318(4):213-29. [Medline].

  2. Rolfs A, Bonkovsky HL, Kohlroser JG, et al. Intestinal expression of genes involved in iron absorption in humans. Am J Physiol Gastrointest Liver Physiol. Apr 2002;282(4):G598-607. [Medline].

  3. Park CH, Valore EV, Waring AJ, et al. Hepcidin, a urinary antimicrobial peptide synthesized in the liver. J Biol Chem. Mar 16 2001;276(11):7806-10. [Medline].

  4. Fleming RE, Britton RS, Waheed A, et al. Pathogenesis of hereditary hemochromatosis. Clin Liver Dis. Nov 2004;8(4):755-73, vii. [Medline].

  5. Galbraith R. Heme oxygenase: who needs it?. Proc Soc Exp Biol Med. Dec 1999;222(3):299-305. [Medline].

  6. Powell LW. Diagnosis of hemochromatosis. Semin Gastrointest Dis. Apr 2002;13(2):80-8. [Medline].

  7. Powell LW, Dixon JL, Ramm GA, et al. Screening for hemochromatosis in asymptomatic subjects with or without a family history. Arch Intern Med. Feb 13 2006;166(3):294-301. [Medline].

  8. Adams PC, Barton JC. Haemochromatosis. Lancet. Dec 1 2007;370(9602):1855-60. [Medline].

  9. Adams PC, Reboussin DM, Barton JC, et al. Hemochromatosis and iron-overload screening in a racially diverse population. N Engl J Med. Apr 28 2005;352(17):1769-78. [Medline].

  10. Gleeson F, Ryan E, Barrett S, et al. Clinical expression of haemochromatosis in Irish C282Y homozygotes identified through family screening. Eur J Gastroenterol Hepatol. Sep 2004;16(9):859-63. [Medline].

  11. Allen KJ, Gurrin LC, Constantine CC, et al. Iron-overload-related disease in HFE hereditary hemochromatosis. N Engl J Med. Jan 17 2008;358(3):221-30. [Medline].

  12. Barton JC, Wiener HW, Acton RT, et al. HLA haplotype A*03-B*07 in hemochromatosis probands with HFE C282Y homozygosity: frequency disparity in men and women and lack of association with severity of iron overload. Blood Cells Mol Dis. Jan-Feb 2005;34(1):38-47. [Medline].

  13. Rivers CA, Barton JC, Gordeuk VR, et al. Association of ferroportin Q248H polymorphism with elevated levels of serum ferritin in African Americans in the Hemochromatosis and Iron Overload Screening (HEIRS) Study. Blood Cells Mol Dis. May-Jun 2007;38(3):247-52. [Medline].

  14. Bothwell TH, MacPhail AP. Hereditary hemochromatosis: etiologic, pathologic, and clinical aspects. Semin Hematol. Jan 1998;35(1):55-71. [Medline].

  15. Centers for Disease Control and Prevention (CDC). Iron overload and hemochromatosis. May 2006;[Full Text].

  16. Bailey EJ, Gardner AB. Hemochromatosis of the foot and ankle. Report of three cases and review of the literature. Clin Orthop Relat Res. Apr 1998;108-15. [Medline].

  17. Himmelmann A, Fehr J. Cloning of the hereditary hemochromatosis gene: implications for pathogenesis, diagnosis, and screening. J Lab Clin Med. Mar 1999;133(3):229-36. [Medline].

  18. Ramrakhiani S, Bacon BR. Hemochromatosis: advances in molecular genetics and clinical diagnosis. J Clin Gastroenterol. Jul 1998;27(1):41-6. [Medline].

  19. Gochee PA, Powell LW, Cullen DJ, et al. A population-based study of the biochemical and clinical expression of the H63D hemochromatosis mutation. Gastroenterology. Mar 2002;122(3):646-51. [Medline].

  20. Wallace DF, Walker AP, Pietrangelo A, et al. Frequency of the S65C mutation of HFE and iron overload in 309 subjects heterozygous for C282Y. J Hepatol. Apr 2002;36(4):474-9. [Medline].

  21. Bridle KR, Frazer DM, Wilkins SJ, et al. Disrupted hepcidin regulation in HFE-associated haemochromatosis and the liver as a regulator of body iron homoeostasis. Lancet. Feb 22 2003;361(9358):669-73. [Medline].

  22. Muckenthaler M, Roy CN, Custodio AO, et al. Regulatory defects in liver and intestine implicate abnormal hepcidin and Cybrd1 expression in mouse hemochromatosis. Nat Genet. May 2003;34(1):102-7. [Medline].

  23. Papanikolaou G, Samuels ME, Ludwig EH, et al. Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis. Nat Genet. Jan 2004;36(1):77-82. [Medline].

  24. Nemeth E, Roetto A, Garozzo G, et al. Hepcidin is decreased in TFR2 hemochromatosis. Blood. Feb 15 2005;105(4):1803-6. [Medline].

  25. Gehrke SG, Kulaksiz H, Herrmann T, et al. Expression of hepcidin in hereditary hemochromatosis: evidence for a regulation in response to the serum transferrin saturation and to non-transferrin-bound iron. Blood. Jul 1 2003;102(1):371-6. [Medline].

  26. Hattori A, Wakusawa S, Hayashi H, et al. AVAQ 594-597 deletion of the TfR2 gene in a Japanese family with hemochromatosis. Hepatol Res. Jun 2003;26(2):154-156. [Medline].

  27. Kawabata H, Fleming RE, Gui D, et al. Expression of hepcidin is down-regulated in TfR2 mutant mice manifesting a phenotype of hereditary hemochromatosis. Blood. Jan 1 2005;105(1):376-81. [Medline].

  28. Morrison ED, Brandhagen DJ, Phatak PD, et al. Serum ferritin level predicts advanced hepatic fibrosis among U.S. patients with phenotypic hemochromatosis. Ann Intern Med. Apr 15 2003;138(8):627-33. [Medline].

  29. Wetterhall SF, Cogswell ME, Kowdley KV. Public health surveillance for hereditary hemochromatosis. Ann Intern Med. Dec 1 1998;129(11):980-6. [Medline].

  30. Qaseem A, Aronson M, Fitterman N, et al. Screening for hereditary hemochromatosis: a clinical practice guideline from the American College of Physicians. Ann Intern Med. Oct 4 2005;143(7):517-21. [Medline].

  31. Swinkels DW, Jorna AT, Raymakers RA. Synopsis of the Dutch multidisciplinary guideline for the diagnosis and treatment of hereditary haemochromatosis. Neth J Med. Dec 2007;65(11):452-5. [Medline].

  32. Powell LW, Subramaniam VN, Yapp TR. Haemochromatosis in the new millennium. J Hepatol. 2000;32(1 Suppl):48-62. [Medline].

  33. McDonnell SM, Witte DL, Cogswell ME, et al. Strategies to increase detection of hemochromatosis. Ann Intern Med. Dec 1 1998;129(11):987-92. [Medline].

  34. Powell LW, George DK, McDonnell SM, et al. Diagnosis of hemochromatosis. Ann Intern Med. Dec 1 1998;129(11):925-31. [Medline].

  35. McDonnell SM, Phatak PD, Felitti V, et al. Screening for hemochromatosis in primary care settings. Ann Intern Med. Dec 1 1998;129(11):962-70. [Medline].

  36. Edwards CQ, Griffen LM, Ajioka RS, et al. Screening for hemochromatosis: phenotype versus genotype. Semin Hematol. Jan 1998;35(1):72-6. [Medline].

  37. Cogswell ME, McDonnell SM, Khoury MJ, et al. Iron overload, public health, and genetics: evaluating the evidence for hemochromatosis screening. Ann Intern Med. Dec 1 1998;129(11):971-9. [Medline].

  38. Beutler E, Felitti VJ, Koziol JA, et al. Penetrance of 845G--> A (C282Y) HFE hereditary haemochromatosis mutation in the USA. Lancet. Jan 19 2002;359(9302):211-8. [Medline].

  39. Turlin B, Deugnier Y. Evaluation and interpretation of iron in the liver. Semin Diagn Pathol. Nov 1998;15(4):237-45. [Medline].

  40. Worwood M. Pathogenesis and management of haemochromatosis. Br J Haematol. Apr 1999;105 Suppl 1:16-8. [Medline].

  41. Khanna A, Jain A, Eghtesad B, et al. Liver transplantation for metabolic liver diseases. Surg Clin North Am. Feb 1999;79(1):153-62, ix. [Medline].

  42. Barton JC, McDonnell SM, Adams PC, et al. Management of hemochromatosis. Hemochromatosis Management Working Group. Ann Intern Med. Dec 1 1998;129(11):932-9. [Medline].

  43. Barton JC. Chelation therapy for iron overload. Curr Gastroenterol Rep. Mar 2007;9(1):74-82. [Medline].

  44. Wojcik JP, Speechley MR, Kertesz AE, et al. Natural history of C282Y homozygotes for hemochromatosis. Can J Gastroenterol. May 2002;16(5):297-302. [Medline].

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Further Reading

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Keywords

hemochromatosis, haemochromatosis, hereditary hemochromatosis, HH, iron overload, genetic hemochromatosis, siderophilia, primary hemochromatosis, cirrhosis, hepatocellular carcinoma

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Contributor Information and Disclosures

Author

Hady E Sfeir, MD, Clinical Assistant Professor of Medicine, Department of Internal Medicine, OSF St Francis Medical Center
Hady E Sfeir, MD is a member of the following medical societies: American Association of Clinical Endocrinologists and American Medical Association
Disclosure: Nothing to disclose.

Coauthor(s)

David M Klachko, MBBCh, Professor Emeritus, Department of Internal Medicine, Division of Endocrinology, Diabetes and Metabolism, University of Missouri
David M Klachko, MBBCh is a member of the following medical societies: Alpha Omega Alpha, American College of Physicians-American Society of Internal Medicine, American Diabetes Association, American Federation for Medical Research, Endocrine Society, Missouri State Medical Association, and Sigma Xi
Disclosure: Nothing to disclose.

Medical Editor

Vivek Gumaste, MD, Chief, Clinical Associate Professor, Department of Internal Medicine, Division of Gastroenterology, Elmhurst Hospital Center, Mount Sinai School of Medicine
Vivek Gumaste, MD is a member of the following medical societies: American Gastroenterological Association
Disclosure: Nothing to disclose.

Pharmacy Editor

Francisco Talavera, PharmD, PhD, Senior Pharmacy Editor, eMedicine
Disclosure: Nothing to disclose.

Managing Editor

Douglas M Heuman, MD, FACP, Director of Hepatology, McGuire Veterans Affairs Medical Center, Professor, Department of Internal Medicine, Division of Gastroenterology, Virginia Commonwealth University School of Medicine
Douglas M Heuman, MD, FACP is a member of the following medical societies: American Association for the Study of Liver Diseases, American College of Physicians, and American Gastroenterological Association
Disclosure: Nothing to disclose.

CME Editor

Alex J Mechaber, MD, FACP, Assistant Dean for Medical Curriculum, Associate Professor of Medicine, Division of General Internal Medicine, University of Miami Miller School of Medicine
Alex J Mechaber, MD, FACP is a member of the following medical societies: Alpha Omega Alpha, American College of Physicians-American Society of Internal Medicine, and Society of General Internal Medicine
Disclosure: Nothing to disclose.

Chief Editor

Julian Katz, MD, Clinical Professor of Medicine, Drexel University College of Medicine; Consulting Staff, Department of Medicine, Section of Gastroenterology and Hepatology, Hospital of the Medical College of Pennsylvania
Julian Katz, MD is a member of the following medical societies: American College of Gastroenterology, American College of Physicians, American Gastroenterological Association, American Geriatrics Society, American Medical Association, American Society for Gastrointestinal Endoscopy, American Society of Law Medicine and Ethics, American Trauma Society, Association of American Medical Colleges, and Physicians for Social Responsibility
Disclosure: Nothing to disclose.

 
 
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