Hereditary hemochromatosis is a genetic disorder that makes your body absorb too much iron from the food you eat. Without a way to get rid of it, the iron builds up in your body.
Small amounts of iron are vital for healthy blood and getting enough oxygen. But too much iron can be toxic.
Hereditary hemochromatosis is treated by reducing the amount of iron stored in the body. Long-term treatment focuses on maintaining normal iron levels.
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What Is Hereditary Hemochromatosis?
Hereditary hemochromatosis is a genetic disorder that makes your body absorb too much iron from the food you eat. Without a way to get rid of it, the iron builds up in your body.
Small amounts of iron are vital for healthy blood and getting enough oxygen. But too much iron can be toxic.
What are the types of hereditary hemochromatosis?
The types of hereditary hemochromatosis are classified based on the age of onset, genetic cause, and inheritance mode.
The four types of hereditary hemochromatosis are:
- Type 1 is the most common form of the disorder. It begins in adulthood, usually affecting men between the ages of 40 and 60 and women after menopause.
- Type 2, also called juvenile-onset hemochromatosis, often begins to show symptoms in childhood. Girls with the disorder may get their periods normally, but menstruation may stop after a few years. Boys may have delayed puberty or have other symptoms of low sex hormones. By age 20, iron accumulation can decrease or prevent the secretion of sex hormones.
- Type 3 usually begins after 20 but before the age of 30.
- Type 4 hemochromatosis, also called ferroportin disease, begins in adulthood, with men developing symptoms after 40 and women after 50.
How common is hereditary hemochromatosis?
Type 1 hemochromatosis is very common in the United States, affecting about 1 million people – mostly those of Northern European descent. It is the most common autosomal recessive disorder in White populations, occurring in 1 in 300 individuals.
The other types of hemochromatosis are considered rare and have been studied in only a small number of families worldwide.
What causes hereditary hemochromatosis?
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 the disorder.
Hereditary hemochromatosis risk factors
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 of hemochromatosis if your parents or siblings have the disease. Your doctor may urge genetic testing if you have a family history of it.
Complications of hereditary hemochromatosis
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:
- Arthritis.
- Cirrhosis of the liver.
- Heart problems.
- Liver cancer.
What Are the Signs and Symptoms of Hereditary Hemochromatosis?
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:
- Bronzed or brownish skin tone.
- Fatigue.
- Irregular heartbeat.
- Joint pain.
- Loss of sex drive.
- Stomach pain.
- Unexplained weight loss.
- Weakness.
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 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.
When should I see a doctor about my hereditary hemochromatosis symptoms?
See your doctor if you have any of these symptoms, especially if you have a relative with hereditary hemochromatosis.
How Do You Diagnose Hereditary Hemochromatosis?
Your doctor will diagnose hemochromatosis based on your:
- Family health history.
- Physical exam.
- Test results.
During the exam, your doctor will check for symptoms like:
- An enlarged liver.
- An irregular heartbeat.
- Arthritis.
- Discolored skin.
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.
How Do You Treat Hereditary Hemochromatosis?
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 hepatitis B to help protect your liver.
Blood draws to treat hereditary hemochromatosis
Phlebotomy (drawing blood) 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.
Medicine to treat hereditary hemochromatosis
Your doctor may also prescribe medicine that binds excess iron. Medicine is mainly for people who can't endure frequent blood draws.
Low-iron diet to treat hereditary hemochromatosis
It's vital to limit iron in your diet when you have hemochromatosis.
Here are some ways to lower your iron intake:
- Avoid drinking alcohol to help keep your liver healthy.
- Avoid taking vitamins or other supplements that contain iron.
- Limit your intake of vitamin C, which increases the amount of iron your body absorbs.
Your doctor will let you know if you need to alter your diet in any other way.
Why Choose UPMC for Hereditary Hemochromatosis Care?
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 UPMC 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.
