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Hemochromatosis

Iron overload; Blood transfusion - hemochromatosis

 

Hemochromatosis is a condition in which there is too much iron in the body. It is also called iron overload.

Causes

 

Hemochromatosis may be a genetic disorder passed down through families.

  • People with this type absorb too much iron through their digestive tract. Iron builds up in the body. The liver, heart, and pancreas are common organs where iron builds up.
  • It is present at birth but may not be diagnosed for years.
  • A person is more likely to get this disease if someone else in the family has or had the condition.

Hemochromatosis may also occur as a result of:

  • Other blood disorders, such as thalassemia or certain anemias . Too many blood transfusions over time may lead to iron overload.
  • Long-term alcohol use and other health conditions.

This disorder affects more men than women. It is common in white people of western European descent.

 

Symptoms

 

Symptoms may include any of the following:

  • Abdominal pain
  • Fatigue, lack of energy, weakness
  • Generalized darkening of skin color (often referred to as bronzing)
  • Joint pain
  • Loss of body hair
  • Loss of sexual desire
  • Weight loss

 

Exams and Tests

 

The health care provider will perform a physical exam. This may show liver and spleen swelling, and skin color changes.

Blood tests may help make the diagnosis. Tests may include:

  • Ferritin level
  • Iron level
  • Percentage of transferrin saturation (high)
  • Genetic testing

Other tests may include:

  • Blood sugar (glucose) level
  • Alpha fetoprotein
  • Echocardiogram to examine the heart's function
  • Electrocardiogram (ECG) to look at the electrical activity of the heart
  • Imaging tests such as CT scans, MRI, and ultrasound
  • Liver function tests

The condition may be confirmed with a liver biopsy or phlebotomy.

If a genetic defect is confirmed, other blood tests can be used to find out if other family members are at risk for iron overload.

 

Treatment

 

The goal of treatment is to remove excess iron from the body and treat any organ damage.

A procedure called phlebotomy is the best method for removing excess iron from the body:

  • One half liter of blood is removed from the body each week until the body's iron level is normal. This may take many months to do.
  • After that, the procedure may be done less often to maintain a normal iron level.

Why the procedure is needed depends on your symptoms and levels of hemoglobin and serum ferritin, and how much iron you take in your diet.

In men, testosterone hormone therapy can help improve the loss of sexual desire and changes in secondary sexual characteristics.

Other health problems such as diabetes, arthritis, liver failure, and heart failure will be treated.

If you are diagnosed with hemochromatosis, you should follow a special diet to reduce how much iron is absorbed through your digestive tract. Your provider will recommend the following:

  • Do not drink alcohol, especially if you have liver damage.
  • Do not take iron pills or vitamins containing iron.
  • Do not use iron cookware.
  • Do not eat raw seafood (cooked is fine).
  • Do not eat foods fortified with iron, such as 100% iron-fortified breakfast cereals.

 

Outlook (Prognosis)

 

Untreated, iron overload can lead to liver damage.

Extra iron may also build up in other areas of the body, including the thyroid gland, testicles, pancreas, pituitary gland, heart, or joints. Early treatment can help prevent complications such as liver disease, heart disease, arthritis or diabetes.

How well you do depends on the amount of organ damage. Some organ damage can be reversed when hemochromatosis is detected early and treated aggressively with phlebotomy.

 

Possible Complications

 

Complications include:

  • Liver cirrhosis
  • Liver failure
  • Liver cancer

The disease may lead to the development of:

  • Arthritis
  • Diabetes
  • Heart problems
  • Increased risk for certain bacterial infections
  • Testicular atrophy
  • Skin color changes

 

When to Contact a Medical Professional

 

Call your provider if symptoms of hemochromatosis develop.

Call for an appointment with your provider (for screening) if a family member has been diagnosed with hemochromatosis.

 

Prevention

 

Screening family members of a person diagnosed with hemochromatosis may detect the disease early so that treatment can be started before organ damage has occurred in other affected relatives.

 

 

References

Bacon BR, Britton RS. Hemochromatosis. In: Feldman M, Friedman LS, Brandt LJ, eds. Sleisenger and Fordtran's Gastrointestinal and Liver Disease: Pathophysiology/Diagnosis/Management . 10th ed. Philadelphia, PA: Elsevier Saunders; 2016:chap 75.

Ferri FF. Hemochromatosis. In: Ferri FF, ed. Ferri's Clinical Advisor 2016 . Philadelphia: PA: Elsevier; 2016:585-586.

 
  • Hepatomegaly - illustration

    Hepatomegaly is enlargement of the liver beyond its normal size. Certain conditions such as infection, parasites, tumors, anemias, toxic states, storage diseases, heart failure, congenital heart disease, and metabolic disturbances may all cause an enlarged liver.

    Hepatomegaly

    illustration

    • Hepatomegaly - illustration

      Hepatomegaly is enlargement of the liver beyond its normal size. Certain conditions such as infection, parasites, tumors, anemias, toxic states, storage diseases, heart failure, congenital heart disease, and metabolic disturbances may all cause an enlarged liver.

      Hepatomegaly

      illustration

    A Closer Look

     

      Tests for Hemochromatosis

       

         

        Review Date: 3/16/2016

        Reviewed By: Todd Gersten, MD, Hematology/Oncology, Florida Cancer Specialists & Research Institute, Wellington, FL. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.

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