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Johns Hopkins Symptoms and Remedies

Johns Hopkins Medicine

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Hemochromatosis

What is it?

Hemochromatosis, or iron overload, is a disorder resulting from an excessive accumulation of iron in the liver, pancreas, heart, testes, and other organs. It is usually caused by a genetic abnormality found in one of every 200 to 300 people but may also be brought on by excessive iron intake, either in the diet or through blood transfusions. Symptoms often do not appear until late middle age, but by the time they do appear, the disease may be very advanced.

Excess iron in the pancreas may lead to diabetes mellitus, while excess iron in the liver may lead to cirrhosis of the liver, liver cancer, and liver failure. Untreated hemochromatosis may also lead to congestive heart failure and impotence. The gene for the disease is recessive, meaning that both parents must carry it for a child to have a chance of developing it. Men from high-risk families are 10 times more likely to develop the disease than women because men have a greater iron intake (they consume more food), and because women lose iron through menstruation. Women's risk increases after menopause. Boys from high-risk families should be tested at the onset of puberty, and girls before age 20.

What Causes It?

  • Most cases are caused by a genetic abnormality.
  • The disease is common among whites; it is uncommon among African Americans.
  • The use of iron supplements or iron cookware does not lead to iron overload, except in those who are genetically predisposed.
  • Excessive alcohol intake can worsen the liver damage caused by hemochromatosis.
  • Patients with certain types of anemia may accumulate excessive iron from repeated blood transfusions (secondary hemochromatosis).

Prevention

  • Early detection and treatment are essential for staving off symptoms and complications.
  • If you are at risk for hemochromatosis, limit your intake of foods high in iron, such as liver, red meats, and iron-enriched breads and cereals, and do not take iron supplements unless advised by your doctor.

Diagnosis

  • Tests measuring the blood levels of iron can suggest the diagnosis and the need for treatment.
  • A family history of the disorder is often present.
  • CT (computed tomography) scans or MRI (magnetic resonance imaging) may reveal organ abnormalities, which help determine the disorder's severity.
  • A liver biopsy is the most definitive test.

How to Treat It

  • Periodic withdrawal of blood (phlebotomy) is necessary to rid the body of excess iron. This may be needed weekly for several years in severe cases; when iron stores have been reduced to normal, phlebotomy is required only three or four times a year.
  • Testosterone therapy may be administered to men to correct loss of sexual desire and changes in secondary sexual traits.
  • A diet low in iron-rich foods may be advised.
  • Administration of the medication deferoxamine is required to remove iron in patients with secondary hemochromatosis.

When to Call a Doctor

  • Call a doctor if you develop symptoms of hemochromatosis.
  • Schedule diagnostic screening for hemochromatosis if you have a family history of it.