Hemochromatosis (Iron Overload)

Hemochromatosis (HEE-mow-KROW-muh-TOW-sis) is a condition in which your body absorbs and retains too much iron. It’s also called iron overload. Your organs store the excess iron, which damages them over time. It especially damages your heart, liver and pancreas. Since these are vital organs, iron overload can become life-threatening without treatment. Fortunately, it’s treatable.

Symptoms of hemochromatosis

Common symptoms of hemochromatosis (iron overload) include:

• Fatigue (feeling tired a lot)
• Heart flutters (arrhythmias)
• Joint pain
• Low libido or erectile dysfunction
• Pain in the knuckles of your index and middle fingers (“iron fist”)
• Skin darkening (a gray or bronze tint)
• Unexplained weight loss
• Upper abdominal pain

These symptoms happen when iron builds up to levels that start to affect your organs. Although hemochromatosis usually starts at birth, it takes a long time for iron to build up. Most people don’t develop symptoms until their 40s or 50s. If you have a milder form of hemochromatosis, you might not ever notice it. Or symptoms might appear much later in life and resemble normal signs of aging.

Hemochromatosis causes

Most people with hemochromatosis inherit it from their parents. This is called hereditary hemochromatosis, or primary hemochromatosis. The cause is an altered gene that they pass on to you. It takes two copies of the altered gene — one from each parent — for you to develop hemochromatosis. If your parents each have only one copy, they likely won’t have the condition or know about the gene.

Changes in the HFE gene usually cause hereditary hemochromatosis. The two most common variants are C282Y and H63D. A less common form of the condition, called juvenile hemochromatosis, comes from changes in the HJV or HAMP genes. These changes cause iron to build up much more quickly, so symptoms appear sooner. Juvenile hemochromatosis typically appears between the ages of 15 and 30.

Secondary hemochromatosis

You can also develop hemochromatosis secondary to another medical condition or treatment. For example, if you have anemia, you can develop iron overload from frequent blood transfusions. If you have advanced liver disease, your liver may not be able to process iron properly, causing it to build up. Rarely, a developing fetus with preexisting liver disease can develop neonatal hemochromatosis.

Risk factors

Hereditary hemochromatosis is more common in white people with ancestors from Northern Europe. It’s less common in people of African American, Hispanic, Asian or Native American descent. You can find out if you have one or more copies of the altered HFE gene through genetic testing. If you’re planning a family, you and your partner may want to find out if you each carry one of the genes.

Risk factors for secondary hemochromatosis include:

• Liver disease
• Anemia
• Heavy alcohol use

Complications of iron overload

Your body needs iron, but too much becomes toxic. Your body doesn’t have a built-in way to get rid of excess iron. So, it stashes it away in your tissues. As it builds up, you may start to see it in your skin and feel it in your joints. It may also start to cause problems with your organs and glands, including your:

• Adrenals
• Gallbladder
• Heart
• Liver
• Pancreas
• Pituitary gland
• Reproductive system
• Spleen
• Thyroid

Iron overload affects your heart, liver and pancreas the most. It can lead to serious complications like:

• Chronic liver failure
• Congestive heart failure
• Diabetes (Type 3c)

How doctors diagnose this condition

To find out if you have hemochromatosis, your healthcare provider will start by asking some questions. For example, they might ask:

• If your biological parents ever had iron overload, liver disease or other related diseases
• If you take iron supplements and/or vitamin C (which can increase your iron absorption)
• How often you drink alcohol (which increases iron absorption and contributes to liver disease)

They’ll perform a physical exam to look for signs and symptoms of iron overload.

Other tests might include:

• Blood tests to measure how much iron is in your blood and organs
• Genetic testing to see if you have the inherited form of hemochromatosis
• Liver biopsy, when a small needle removes a tiny bit of liver tissue for study under a microscope
• An MRI to take detailed pictures of your organs

What is the best treatment for hemochromatosis?

Hemochromatosis treatment includes changes to your eating habits and other methods to help reduce iron levels in your body. These treatments can help prevent or delay further damage to your organs.

• Dietary changes: Your healthcare provider may ask you to stop taking certain dietary supplements, like iron and vitamin C. You may also need to stay away from foods high in iron or high in vitamin C. Limiting your alcohol consumption is also important to protect your liver.
• Iron chelation therapy: This prescription medication removes extra iron from your body. You can take it by mouth at home, or your healthcare provider may give it to you as an injection.
• Therapeutic phlebotomy: This procedure uses a needle to remove some of your blood. Since red blood cells contain much of your body’s iron, removing them reduces your iron levels. You may need to have blood drawn as often as once a week to start, and then every few months.

If another condition caused your hemochromatosis, you may need separate treatment for that condition. You may also need separate treatment for problems caused by hemochromatosis.

What is the outlook with hemochromatosis?

The outlook for hemochromatosis depends on how soon you get a diagnosis and treatment. If hemochromatosis progresses for a long time without treatment, it can do real damage to your organs. Some damage may be irreversible. But with timely recognition and treatment, hemochromatosis is a manageable disease. You can live a typical, healthy life, and may even be able to reverse organ damage.