Hemochromatosis

Hemochromatosis is a common hereditary liver disease. It is caused by an increase in iron in the body or iron overload. Primary hemochromatosis, also called hereditary hemochromatosis, is an inherited disease. Secondary hemochromatosis is caused by anemia, alcoholism, and other disorders. Hemochromatosis causes the body to absorb and store too much iron. The extra iron builds up in the body’s organs and damages them. Without treatment, the disease can cause the liver, heart, and pancreas to fail.

Symptoms

  • Fatigue
  • Impotence
  • Joint pain
  • Skin discoloration (hyperpigmentation)
  • Weakness

Risk Factors

Risk factors for developing hemochromatosis include:

  • Genetics: a gene called HFE, which helps regulate the amount of iron absorbed by the intestine from our diet.

When to See a Doctor

If you have symptoms consistent with hemochromatosis, see a doctor for a thorough exam and consultation. Serious complications can develop if the condition is left untreated.

Treatment Options

Treatment options for individuals with hemochromatosis vary and may include the following:

  • Phlebotomy as a method to reduce the iron in the body by removing blood cells rich in iron

Diagnostic Testing

The foremost diagnostic “test” for any condition is a thorough exam and consultation with a physician, including a review of your individual and family history. In addition, your physician may recommend any of the following tests or procedures, which may provide further diagnostic value:

  • Blood tests
  • Imaging tests (which may include one or more of the following: ultrasound, x-ray, CT scan, MRI scan)
  • Liver Biopsy

Prevention

Hemochromatosis cannot be prevented, but if the condition is diagnosed and treated before organs are damaged, associated conditions-such as liver disease, heart disease, arthritis, and diabetes-can be prevented.

Learn More

Learn more about hemochromatosis with resources from the National Institutes of Health

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