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Hereditary hemochromatosis is a genetic disorder that makes you absorb too much iron from your food without a way to get rid of it. This causes iron to build up in your body.
Small amounts of iron are vital for healthy blood and getting enough oxygen. But too much iron can be toxic.
Your doctor treats hereditary hemochromatosis by reducing the amount of iron stored in your body. Then treatment focuses on maintaining normal iron levels.
Many genetic diseases, including hemochromatosis, occur when each parent gives their child the same genetic mutation. If only one parent passes on the gene for hereditary hemochromatosis, the child won't have it.
But the child will be a carrier.
If that child's future partner also carries the gene mutation that causes hereditary hemochromatosis, their children will have it.
Hereditary hemochromatosis occurs in 1 in 300 white Americans. Other races are less likely to have the disorder.
Men and women are equally likely to have hereditary hemochromatosis. But men are more likely to have complications, often at an earlier age.
About 1 in 10 men with hereditary hemochromatosis will develop severe liver disease.
You're at risk for hemochromatosis if your parents or siblings have the disease. Your doctor may urge genetic testing if you have a family history of it.
If you do have hemochromatosis, early treatment means you're less likely to have complications.
When too much iron builds up, many organs store excess iron.
Left undiagnosed or untreated, hereditary hemochromatosis can cause complications such as:
Hereditary hemochromatosis is a lifelong condition that affects the liver. That's why you'll want to find a doctor with deep expertise in diseases of the liver.
Choosing the UPMC Center for Liver Diseases means your doctor will be up-to-date on the latest advancements in hereditary hemochromatosis.
The symptoms of hemochromatosis can mimic other conditions, so seek care promptly. That's the best way to receive a timely diagnosis so you can start treatment and reduce symptoms.
Many people who have hereditary hemochromatosis don't have any symptoms. In fact, as many as half of all people with the disease don't have symptoms.
Hemochromatosis can affect many organs, so symptoms may vary.
The most common symptoms include:
Men most often start to show symptoms during their 40s and 50s. Diabetes or cirrhosis often are the first signs of hemochromatosis in men.
In contrast, women often don't show symptoms until their 60s. Doctors think that regular blood loss through monthly periods may help protect younger women.
But when women reach menopause, they will start amassing excess iron if they have the disease. They're more likely to have broad symptoms first, such as fatigue.
People in their teens and 20s can also develop iron overload. Juvenile hemochromatosis is also a genetic disorder.
See your doctor if you have any of these symptoms, especially if you have a relative with hereditary hemochromatosis.
Your doctor will diagnose hemochromatosis based on:
During the exam, your doctor will check for symptoms like:
Your doctor will also order blood tests. These tests will check your liver function and the amount of iron in your blood.
Blood tests can't show how much iron is inside your organs, so your doctor may do a liver biopsy. In this procedure, your doctor will remove a tiny piece of your liver to study it.
You may also need an MRI to learn how much iron is inside your liver.
The main goal of treatment is to remove excess iron from your body before it damages your organs.
Treatment may also involve managing your symptoms or protecting your organs from further damage.
If you have hereditary hemochromatosis, you will need regular treatment for the rest of your life.
If you stop treatment, excess iron will build up in your body again.
It's crucial to see your doctor routinely and keep all your appointments. You should also plan to get vaccines for hepatitis A and B to help protect your liver.
Drawing blood (phlebotomy) to remove iron in the body is the main treatment for hereditary hemochromatosis. It's like getting a blood test in that a phlebotomist inserts a needle into a vein in your arm to draw blood.
You may be able to donate this blood to a blood bank, depending on local policy.
Your doctor may also prescribe medicine that binds excess iron. Medicine is mainly for people who can't endure frequent blood draws.
It's vital to limit iron in your diet when you have hemochromatosis.
Here are some ways to lower your iron intake:
Your doctor will let you know if you need to alter your diet in any other way.
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