What is Hemochromatosis?

Symptoms and Diagnosis

The symptoms of hemochromatosis will vary based on which organs are damaged by the iron build-up and may include:

• Elevated liver enzymes
• Symptoms of liver disease
• Skin color changes (darkening to bronze or gray/green)
• Joint pain
• Diabetes
• Irregular heart rhythm (arrhythmia)
• Heart failure

If your doctor suspects your symptoms might be caused by hemochromatosis, blood tests will be ordered to confirm or rule out the diagnosis. These tests will measure both the amount of iron in your blood and the amount of iron that is stored in your body. In addition, genetic testing may be recommended.

Treatments

If your blood test results confirm hemochromatosis, there is no cure but there are effective treatments that can reduce the amount of iron in your body, relieve symptoms and reduce the risk of organ damage. The primary treatments are:

• Changes to your diet
• Alcohol cessation – alcohol can increase iron absorption so it may be recommended that you eliminate or reduce your alcohol consumption
• Therapeutic phlebotomy – the regular removal of blood from the body
• Iron chelation therapy – medications that increase the amount of iron excreted in the urine and feces

If diagnosed early before there is any serious organ damage, hemochromatosis can usually be successfully managed. If the disease is more advanced and has caused organ damage, like cirrhosis or heart disease, your UH care team will develop an appropriate plan of care.