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Hemochromatosis

Alternative names: Iron overload disease

What is hemochromatosis?
What are the signs of hemochromatosis?
What causes hemochromatosis?
How does my doctor tell if I have hemochromatosis?
How is hemochromatosis treated?

What is hemochromatosis?

Hemochromatosis is an inherited condition in which the body stores too much iron in its organs. This extra iron can accumulate in the pancreas, intestines, heart, skin, endocrine glands, and the liver.

What are the signs of hemochromatosis?

Although many people show no symptoms, a person with hemochromatosis can have:

  • Joint pain
  • Fatigue (feeling tired) and weakness
  • Abdominal pain
  • An overall darkening of the skin
  • Loss of sexual desire, and/or impotence
  • Weight loss
  • Liver enlargement
  • Diabetes

Many organs can be affected by excess iron accumulation, including:

  • Liver: leading to cirrhosis and hepatocellular carcinoma (cancer that arises from hepatocytes, the major cell type of the liver)
  • Heart: causing heart failure (cardiomyopathy)
  • Pancreas: may cause diabetes
  • Joints: arthritis

What causes hemochromatosis?

The term hemochromatosis usually indicates an inherited disease which causes the body to accumulate excessive iron due to changes in the genes that regulate iron uptake in the bowel and the liver.

There are also many diseases that lead to iron overload in the body because more iron is produced than the body can dispose of.

Excess iron is offered in cases of increased blood break down (multiple blood transfusions, disease with increased breakdown of red blood cells (hemolytic anemia) and others.

Excess iron is also found in cases of inflammation of the liver due to hepatitis or alcohol.

As a rule, iron overload due to excess breakdown causes much less, if any damage, compared to true genetic hemochromatosis, which is associated with abnormal hemochromatosis genes.

How does my doctor tell if I have hemochromatosis?

During a physical exam, your doctor might find that your liver and spleen are larger than normal, or that your skin has darkened.

There are few symptoms that immediately indicate hemochromatosis, but the following symptoms should cause the doctor to consider this diagnosis:

  • Arthritis, diabetes, joint complaints, hypothyroidism, impotence, cardiac failure, liver test abnormalities and many others.

If suspected, a blood test to determine the iron saturation in the blood is most important. If this is abnormal, further work up may be needed:

  • Additional blood tests: fasting serum ferritin and, in appropriate cases, genetic testing (very costly)
  • Possibly, a special MRI (Magnetic Resonance Imaging)
  • Liver biopsy can be very helpful in certain cases. If the liver biopsy indicates cirrhosis, more aggressive monitoring for the development of hepatocellular (liver) cancer will be done, along with regular imaging studies (Ultrasound or CT scan) and blood markers of tumor, such as alfafetoprotein (AFP).

Keep in mind that genetic tests do not tell you that you have hemochromatosis. In the proper context, they indicate that you are prone to accumulating iron. However, in the proper constellation of symptoms and findings, this test may confirm the diagnosis and can also help to determine if relatives are at risk.

How is hemochromatosis treated?

The most common treatment is phlebotomy, the removal of excess iron by drawing off blood. One or two pints of blood are drawn every week to remove excess iron storage. Patients may need more than 100 phlebotomies. After two or three years, once excess iron is removed, a few phlebotomies a year will prevent renewed accumulation.

In addition, a doctor will recommend a special diet that is low in iron-rich foods like red meat. Patients must also avoid iron pills or supplements, foods fortified with iron (such as some breakfast cereals), and iron cookware, which can contribute iron to food.

Liver transplant may be necessary in an advanced case of hemochromatosis that has caused serious liver damage (cirrhosis).

Early recognition of the disease, before it has caused damage, can prevent all complications. Most patients can lead a completely normal life. Once symptomatic, not all symptoms may reverse, but many may improve.

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