Hemochromatosis

Overview

Hemochromatosis (he-moe-kroe-muh-TOE-sis) causes your body to absorb too much iron from the food you eat. Excess iron is stored in your organs, especially your liver, heart and pancreas. Too much iron can lead to life-threatening conditions, such as liver disease, heart problems and diabetes.

There are a few types of hemochromatosis, but the most common type is caused by a gene change passed down through families. Only a few people who have the genes ever develop serious problems. Symptoms usually appear in midlife.

Treatment includes regularly removing blood from your body. Because much of the body's iron is contained in red blood cells, this treatment lowers iron levels.

Symptoms

Some people with hemochromatosis never have symptoms. Early symptoms often overlap with those of other common conditions.

Symptoms may include:

• Joint pain.
• Abdominal pain.
• Fatigue.
• Weakness.
• Diabetes.
• Loss of sex drive.
• Impotence.
• Heart failure.
• Liver failure.
• Bronze or gray skin color.
• Memory fog.

When symptoms typically appear

The most common type of hemochromatosis is present at birth. But most people don't experience symptoms until later in life — usually after age 40 in men and after age 60 in women. Women are more likely to develop symptoms after menopause, when they no longer lose iron with menstruation and pregnancy.

When to see a doctor

See your health care provider if you experience any of the symptoms of hemochromatosis. If you have an immediate family member who has hemochromatosis, ask your provider about genetic testing. Genetic testing can check if you have the gene that increases your risk of hemochromatosis.

Causes

Hemochromatosis is most often caused by a change in a gene. This gene controls the amount of iron your body absorbs from food. The altered gene is passed from parents to children. This type of hemochromatosis is by far the most common type. It's called hereditary hemochromatosis.

Gene mutations that cause hemochromatosis

A gene called HFE is most often the cause of hereditary hemochromatosis. You inherit one HFE gene from each of your parents. The HFE gene has two common mutations, C282Y and H63D. Genetic testing can reveal whether you have these changes in your HFE gene.

• If you inherit two altered genes, you may develop hemochromatosis. You also can pass the altered gene on to your children. But not everyone who inherits two genes develops problems linked to the iron overload of hemochromatosis.
• If you inherit one altered gene, you're unlikely to develop hemochromatosis. However, you are considered a carrier of the mutation [altered gene] and can pass the altered gene on to your children. But your children wouldn't develop the disease unless they also inherited another altered gene from the other parent.

How hemochromatosis affects your organs

Iron plays an essential role in several body functions, including helping produce blood. But too much iron is toxic.

A hormone secreted by the liver, called hepcidin, controls how iron is used and absorbed in the body. It also controls how excess iron is stored in various organs. In hemochromatosis, the role of hepcidin is affected, causing the body to absorb more iron than it needs.

This excess iron is stored in major organs, especially the liver. Over a period of years, the stored iron can cause severe damage that may lead to organ failure. It also can lead to long-lasting diseases, such as cirrhosis, diabetes and heart failure. Many people have gene changes that cause hemochromatosis. However, not everyone develops iron overload to a degree that causes tissue and organ damage.

Hereditary hemochromatosis isn't the only type of hemochromatosis. Other types include:

• Juvenile hemochromatosis. This causes the same problems in young people that hereditary hemochromatosis causes in adults. But iron buildup begins much earlier, and symptoms usually appear between the ages of 15 and 30. This disorder is caused by changes in the hemojuvelin or hepcidin genes.
• Neonatal hemochromatosis. In this severe disorder, iron builds up rapidly in the liver of the developing baby in the womb. It is thought to be an autoimmune disease, in which the body attacks itself.
• Secondary hemochromatosis.This form of the disease is not inherited and is often referred to as iron overload. People with certain types of anemia or liver disease may often need multiple blood transfusions. This can lead to excess iron buildup.

Risk factors

Factors that increase your risk of hemochromatosis include:

• Having two copies of an altered HFE gene. This is the greatest risk factor for hereditary hemochromatosis.
• Family history. If you have a parent or sibling with hemochromatosis, you're more likely to develop the disease.
• Ethnicity. People of Northern European descent are more prone to hereditary hemochromatosis than are people of other ethnic backgrounds. Hemochromatosis is less common in people of Black, Hispanic and Asian ancestry.
• Your sex. Men are more likely than women to develop symptoms of hemochromatosis at an earlier age. Because women lose iron through menstruation and pregnancy, they tend to store less of the mineral than men do. After menopause or a hysterectomy, the risk increases for women.

Complications

Untreated, hemochromatosis can lead to a number of complications. These complications especially affect your joints and organs where excess iron tends to be stored, such as your liver, pancreas and heart. Complications can include:

• Liver problems. Cirrhosis — permanent scarring of the liver — is just one of the problems that may occur. Cirrhosis increases your risk of liver cancer and other life-threatening complications.
• Diabetes. Damage to the pancreas can lead to diabetes.
• Heart problems. Excess iron in your heart affects the heart's ability to circulate enough blood for your body's needs. This is called congestive heart failure. Hemochromatosis also can cause abnormal heart rhythms, called arrhythmias.
• Reproductive problems. Excess iron can lead to erectile dysfunction and loss of sex drive in men. It can cause an absence of the menstrual cycle in women.
• Skin color changes. Deposits of iron in skin cells can make your skin appear bronze or gray in color.

Diagnosis

Hemochromatosis can be difficult to diagnose. Early symptoms such as stiff joints and fatigue may be due to conditions other than hemochromatosis.

Many people with the disease don't have any symptoms other than high levels of iron in their blood. Hemochromatosis may be identified because of irregular blood test results after testing is done for other reasons. It also may be revealed when screening family members of people diagnosed with the disease.

Blood tests

The two key tests to detect iron overload are:

• Serum transferrin saturation. This test measures the amount of iron bound to the protein transferrin that carries iron in your blood. Transferrin saturation values greater than 45% are considered too high.
• Serum ferritin. This test measures the amount of iron stored in your liver. If the results of your serum transferrin saturation test are higher than usual, your health care provider may check your serum ferritin.

These blood tests for iron are best performed after you have been fasting. Elevations in one or all of these tests can be found in other disorders. You may need to have the tests repeated for the most accurate results.

Additional testing

Your health care provider may suggest other tests to confirm the diagnosis and to look for other problems:

• Liver function tests. These tests can help identify liver damage.
• MRI. An MRI is a fast and noninvasive way to measure the degree of iron overload in your liver.
• Testing for gene changes. Testing your DNA for changes in the HFE gene is recommended if you have high levels of iron in your blood. If you're considering genetic testing for hemochromatosis, discuss the reasons for and against with your provider or a genetic counselor.
• Removing a sample of liver tissue for testing. If your provider suspects liver damage, the provider may order a liver biopsy. During a liver biopsy, a sample of tissue is removed from your liver using a thin needle. The sample goes to a lab to be checked for the presence of iron. The lab also looks for evidence of liver damage, especially scarring or cirrhosis. Risks of biopsy include bruising, bleeding and infection.

Screening healthy people for hemochromatosis

Genetic testing is recommended for all parents, siblings and children of anyone diagnosed with hemochromatosis. If a gene change is found in only one parent, then children do not need to be tested.

Treatment

Blood removal

Health care providers can treat hemochromatosis safely and effectively by removing blood from the body on a regular basis. This is similar to donating blood. The process is known as phlebotomy.

The goal of phlebotomy is to lower your iron levels. The amount of blood removed and how often it's removed depend on your age, your overall health and the severity of iron overload.

• Initial treatment schedule. In the beginning, you may have a pint (about 470 milliliters) of blood taken once or twice a week — usually in a hospital or your provider's office. While you lean back in a chair, a needle is inserted into a vein in your arm. The blood flows from the needle into a tube that's attached to a blood bag. The process of removing blood is referred to as therapeutic blood removal.
• Maintenance treatment schedule. Once your iron levels go down, blood can be removed less often, typically every 2 to 3 months. Some people may maintain typical iron levels without having any blood taken. Some may need to have blood removed monthly. The schedule depends on how quickly iron builds up in your body.

Treating hemochromatosis can help relieve symptoms of tiredness, stomach pain and skin darkening. It can help prevent serious complications such as liver disease, heart disease and diabetes. If you already have one of these conditions, phlebotomy may slow the progression of the disease. In some cases, it may even reverse it.

Phlebotomy can't reverse cirrhosis or joint pain, but it can slow the progression.

If you have cirrhosis, your health care provider may recommend occasional screening for liver cancer. This usually involves an abdominal ultrasound and CT scan.

Chelation for those who can't undergo blood removal

Phlebotomy may not be an option if you have certain conditions, such as anemia or heart complications. Instead, your provider may recommend a medicine to remove excess iron. The medicine can be injected into your body, or it can be taken as a pill. The medicine binds excess iron, allowing your body to expel iron through your urine or stool in a process that's called chelation (KEE-lay-shun). Chelation is not commonly used in hemochromatosis.

Lifestyle and home remedies

In addition to therapeutic blood removal, you may further reduce your risk of complications from hemochromatosis if you:

• Avoid iron supplements and multivitamins containing iron. These can increase your iron levels even more.
• Avoid vitamin C supplements. Vitamin C increases absorption of iron. There's usually no need to restrict vitamin C in your diet, however.
• Avoid alcohol. Alcohol greatly increases the risk of liver damage in people with hemochromatosis. If you have hemochromatosis and you already have liver disease, avoid alcohol completely.
• Avoid eating raw fish and shellfish. People with hemochromatosis are at risk of infections, particularly those caused by certain bacteria in raw fish and shellfish.

Additional dietary changes generally aren't required for people receiving blood removal treatment.

Preparing for an appointment

Make an appointment with your primary health care provider if you have any symptoms that worry you. You may be referred to a specialist in digestive diseases, called a gastroenterologist, or to another specialist, depending on your symptoms. Here's some information to help you get ready for your appointment, and what to expect.

What you can do

• Be aware of any pre-appointment restrictions. At the time you make the appointment, be sure to ask if there's anything you need to do in advance, such as restrict your diet.
• Write down any symptoms you're experiencing, including any that may seem unrelated to the reason for which you scheduled the appointment.
• Write down key personal information, including any major stresses or recent life changes. Learn if you have any liver disease in your family by asking your family members, if possible.
• Make a list of all medications, vitamins or supplements that you're taking.
• Take a family member or friend along to help you remember what's been discussed.
• Write down questions to ask during your appointment.

Questions to ask your doctor

Some basic questions to ask include:

• What's the most likely cause of my symptoms?
• What kinds of tests do I need?
• Is my condition temporary, or will I always have it?
• What treatments are available? And what do you suggest for me?
• I have other health conditions. How can I best manage these conditions together?
• Are there any restrictions that I need to follow?
• Are there any brochures or other printed material that I can take with me? What websites do you recommend?

Don't hesitate to ask other questions during your appointment.

What to expect from your doctor

Be ready to answer questions your provider may ask:

• When did you begin experiencing symptoms?
• Have your symptoms been continuous, or do they come and go?
• How severe are your symptoms?
• Does anything seem to improve your symptoms?
• What, if anything, appears to worsen your symptoms?
• Does anyone in your family have hemochromatosis?
• How many alcoholic beverages do you drink in a week?
• Are you taking iron supplements or vitamin C?
• Do you have a history of viral hepatitis, such as hepatitis C?
• Have you required blood transfusions before?