eMedicine Specialties > Gastroenterology > Systemic Disease

Hemochromatosis: Treatment & Medication

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

Treatment

Medical Care

The goal of therapy in patients with iron overload disorders is to remove the iron before it can produce irreversible parenchymal damage.41

  • Because a normal life span can be expected if iron reduction is initiated before the development of cirrhosis, clinical suspicion and early diagnosis are essential.
  • Once diagnosed, hemochromatosis is treated by phlebotomy to rid the body of excess iron and to maintain normal iron stores.
  • Iron supplements should be avoided.
  • Patients should limit alcohol consumption and should not eat raw oysters.

Surgical Care

Surgical procedures are used to treat 2 important complications: end-stage liver disease and severe arthropathy.

  • When end-stage liver disease progresses despite iron-reduction therapy, orthotopic liver transplantation is the only therapeutic option42
  • Another indication for liver transplantation is the development of hepatocellular carcinoma.
  • After liver transplantation, 1-year and 5-year survival rates are 58% and 42%, respectively, which is significantly lower than for all other indications.
  • Poor survival and increased posttransplant mortality are due to predominantly  infectious and cardiac complications. Sepsis causes most early posttransplant mortality, whereas congestive heart failure accounts for most deaths 1 year or longer after transplantation.
  • Surgical arthroplasty is considered if joint destruction becomes severe despite medical therapy.

Consultations

Because of its multiorgan nature and the injury or damage to many intrinsic systems, care and treatment of patients with hemochromatosis require the collaboration of multiple physicians in different medical or surgical specialties.

  • Most often, a gastroenterologist is required to confirm the diagnosis by liver biopsy and to assist in the management of end-stage liver diseases.
  • An endocrinologist is helpful in treating patients with diabetes mellitus or other endocrine complications, such as thyroid and gonadal dysfunction.
  • A cardiologist assists in the management of severe congestive heart failure and other cardiac complications, such as arrhythmias.
  • An infectious disease specialist can treat patients with sepsis and also can choose the right antibiotic therapy for rare infectious complications.
  • A rheumatologist or an orthopedist is required for the management of joint complications.
  • A surgeon specializing in liver transplantation may be needed in highly advanced liver disease.

Diet

Dietary factors may influence the phenotypic expression of the disease. Some modulate absorption of iron and may affect the variability of phenotypic penetrance.

  • Patients should not consume foods that contain large concentrations of bioavailable iron, such as red meats and organ meats.
  • They should not use iron supplements, including multivitamins with iron.
  • Substances in foods and drinks, including tannates (in tea), phytates, oxalates, calcium, and phosphates, can bind iron and inhibit its absorption.
  • Dietary changes intended to minimize or eliminate iron ingestion usually are unnecessary and often are not feasible.
  • Ethanol sometimes increases iron absorption, and certain alcoholic drinks, especially red wine, contain relatively high concentrations of iron. Ingestion of 30 grams or more of ethanol daily potentiates hepatic injury due to iron overload and increases the relative risk for primary liver cancer in persons with cirrhosis.
    • Patients with evidence of hepatic injury should consume little or no ethanol.
    • Other patients should consume ethanol in moderation.
  • Vitamin C (ascorbic acid) increases intestinal absorption of inorganic iron. No reason exists to discourage patients from eating fresh fruits and vegetables containing vitamin C, but advising them to limit ingestion of vitamin C in supplements to 500 mg/d is prudent.
  • Raw or improperly cooked shellfish sometimes is contaminated with V vulnificus and can cause sepsis in patients with hemochromatosis.
  • Seafood from potentially contaminated waters must be cooked thoroughly.

Medication

Despite advances in the molecular understanding of hemochromatosis and the impact of C282Y on diagnosis, treatment remains simple, inexpensive, and safe.

Encourage patients to have weekly therapeutic phlebotomy of 500 mL of whole blood (equivalent to approximately 200-250 mg of iron).43

Some patients can tolerate twice-weekly phlebotomy, but this regimen is tedious and often inconvenient. Therapeutic phlebotomy should be performed until iron-limited erythropoiesis develops, identified by failure of the hemoglobin level and/or hematocrit to recover before the next phlebotomy. It should be continued until transferrin saturation is less than 50% and serum ferritin levels are less than 50 ng/mL, preferably 20 ng/mL.

Most patients require maintenance phlebotomy in which 1 unit of blood is removed every 2-3 months. Therapeutic phlebotomy may improve or even cure some of the manifestations and complications of the disease, such as fatigue, elevated liver enzymes, hepatomegaly, abdominal pain, arthralgias, and hyperpigmentation. Other complications usually show little or no change after phlebotomy.

Among individuals with biopsy results positive for liver fibrosis, phlebotomy was associated with an improvement of 13-50%, with the greatest improvement among individuals with the least degree of liver fibrosis. Individuals served as their own controls, and improvement was based on qualitative histologic features. When liver cirrhosis is present and in its early stages, therapeutic phlebotomy appears to control or slow the progression of liver disease.

Chelation therapy with deferoxamine induced iron depletion in people with C282Y homozygosity unable to undergo phlebotomy. However, compliance and acceptability of deferoxamine therapy in patients with nonhemochromatosis iron overload is poor. The oral chelators, deferiprone and deferasirox, also remove iron from hepatocytes, the primary site of excess iron deposition in HFE -associated hemochromatosis, but there are no reports of the use of these drugs in people with C282Y homozygosity.44

Antidote-iron toxicity

Used in patients with hemochromatosis associated with significant anemia or severe end-organ involvement.


Deferoxamine mesylate (Desferal)

DOC used in primary and secondary iron overload syndromes.

Adult

20-50 mg/kg/d by continuous SC infusion over 10-12 h

Pediatric

20-40 mg/kg/d SC over 8-12 h

Documented hypersensitivity; anuria

Pregnancy

C - Fetal risk revealed in studies in animals but not established or not studied in humans; may use if benefits outweigh risk to fetus

Precautions

Caution in severe kidney disease and pyelonephritis; may increase susceptibility to Y enterocolitica infection

More on Hemochromatosis

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