Hemochromatosis (Iron Overload)

Hemochromatosis (iron overload) is a condition in which your body has too much iron. Your body absorbs too much iron and your organs store the excess, which damages them over time. It can be especially damaging to your heart, liver and pancreas.

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 iron builds up, you may start to see it in your skin. You could also feel it in your joints.

Without treatment, iron overload can be life-threatening. But by getting treatment to reduce your iron levels, you can manage the condition.

Hemochromatosis symptoms

Hemochromatosis symptoms happen when iron builds up to levels that start to affect your organs. The condition is usually present at birth. But 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 iron overload, you might not ever notice it. Or symptoms might appear much later in life. They may look like normal signs of aging.

Common symptoms of hemochromatosis include:

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

Hemochromatosis causes

There are two main forms of iron overload: primary (hereditary) hemochromatosis and secondary hemochromatosis.

Most people have hereditary hemochromatosis — they get it from their biological parents. Genetic changes (variations) cause this form. It primarily involves the HFE gene. It takes two copies of the changed gene — one from each parent — for you to develop the condition.

A less common type of the genetic form comes from changes in the HJV or HAMP genes. It’s called juvenile hemochromatosis. Changes in these genes cause iron to build up more quickly. So, symptoms appear sooner. This form typically appears between the ages of 15 and 30.

Other medical conditions or treatments cause secondary hemochromatosis. For example, if you have anemia, frequent blood transfusions can cause iron overload. If you have advanced liver disease, your liver may have trouble processing iron properly. This can cause 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 of Northern European descent.

You can find out if you have copies of the changed 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

Iron overload can cause problems with many different organs and glands in your body. It 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 diagnose hemochromatosis, your healthcare provider will start by asking some questions. They’ll want to know:

• Your family medical history: Tell your provider if your biological parents ever had iron overload, liver disease or other related diseases.
• If you take vitamin C and/or iron supplements: These can increase how much iron your body absorbs.
• How often you drink alcohol: Alcohol increases how much iron your body absorbs. It can also be a factor in liver disease.

Your provider will do a physical exam to look for signs and symptoms of iron overload.

You may need testing, including:

• Blood tests to measure how much iron is in your blood and organs
• Genetic testing to see if you have the genetic form of the condition
• Liver biopsy to look at a tiny bit of liver tissue under a microscope
• MRI to take detailed pictures of your organs

How is hemochromatosis treated?

Hemochromatosis treatment includes several methods to help reduce iron levels in your body. These treatments can help prevent or delay further damage to your organs:

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

If you have secondary hemochromatosis, you may need separate treatment for the condition that caused it.

What is the outlook for someone with hemochromatosis?

The outlook for iron overload depends on how soon you get a diagnosis and start treatment.

If you go a long time without treatment, it can cause severe damage to your organs. Some damage may be permanent.

But with early diagnosis and treatment, hemochromatosis is manageable. You can live a typical life and may be able to reverse organ damage.