Hemochromatosis (Iron Storage Disease)

• Article
• 2021-02-03

Hemochromatosis (HE-mo-kro-ma-TO-sis) is a disease in which too much iron builds up in your body (iron overload). Iron is a mineral found in many foods.

Too much iron is toxic to your body. It can poison your organs and cause organ failure. In hemochromatosis, iron can build up in most organs of your body, but especially the liver, heart, and pancreas.

Too much iron in the liver can cause an enlarged liver, liver failure, liver cancer or cirrhosis (Mr. RO-sis). Cirrhosis is scarring of the liver that prevents the organ from working properly.

Too much iron in the heart can cause an irregular heartbeat called arrhythmias (ah-RITH-me-ahs) and heart failure. Too much iron in the pancreas can lead to diabetes.

If left untreated, hemochromatosis can even lead to death.

Overview

The two types of hemochromatosis are primary and secondary. Primary hemochromatosis is caused by a defect in the genes that determine how much iron you absorb from food. Secondary hemochromatosis usually results from another disease or condition that causes iron overload.

Most people with primary hemochromatosis inherit it from their parents. If you experience two hemochromatosis genes - one from each parent - you are at risk for iron overload and signs and symptoms of the disease. The two faulty genes cause your body to absorb more iron than normal from the foods you eat.

Hemochromatosis is one of the most common genetic disorders in the United States. However, not everyone with hemochromatosis has signs or symptoms of the disease.

Estimates of how many people develop signs and symptoms vary widely. Some estimates suggest that as many as half of all people with the disease have no signs or symptoms.

The severity of hemochromatosis also varies. Some people don't have any complications even with high iron levels in their body. Others have serious complications or die from the disease.

Certain factors can influence the severity of the disease. For example, a high intake of vitamin C can worsen hemochromatosis. This is because vitamin C helps your body absorb iron from food.

Alcohol consumption can worsen liver damage and cirrhosis caused by hemochromatosis. Conditions such as hepatitis can also further damage or weaken the liver.

Symptoms

Hemochromatosis can affect many parts of the body and cause various signs and symptoms. Many of the signs and symptoms are similar to those of other diseases.

Signs and symptoms of hemochromatosis usually do not appear until middle age. Women are more likely to develop general symptoms first, such as fatigue. In men, complications such as diabetes or cirrhosis (scarring of the liver) are often the first signs of the disease.

Signs and symptoms also vary based on the severity of the disease. Common signs and symptoms of hemochromatosis are joint pain, fatigue, general weakness, weight loss, and abdominal pain.

Not everyone with hemochromatosis has signs or symptoms of the disease. Estimates of how many people develop signs and symptoms vary widely. Some estimates suggest that as many as half of all people with the disease have no signs or symptoms.

Hemochromatosis Complications

If hemochromatosis isn't found and treated early, iron builds up in your body and can lead to:

• Liver disease, including an enlarged liver, liver failure, liver cancer, or cirrhosis (scarring of the liver)
• Heart problems, including arrhythmias (irregular heartbeat) and heart failure
• Diabetes, especially in people with a family history of diabetes
• Joint damage and pain, including arthritis
• Failure of the reproductive organs, such as erectile dysfunction (impotence), testicular shrinkage and loss of sex drive in men, and absence of the menstrual cycle and early menopause in women
• Changes in skin color that make the skin look gray or bronze
• Underactive pituitary and thyroid
• Damage to the adrenal glands

Therapy

Treatments for hemochromatosis include therapeutic phlebotomy (fleh-BOT-o-me), iron chelation (ke-LAY-shun) therapy, diet changes, and treatment for complications.

The goals of hemochromatosis treatment include:

• The amount of iron in your lRestore body to normal levels
• Preventing or delaying organ damage from iron overload
• Treat disease complications
• Keeping a normal amount of iron in your body for the rest of your life

Therapeutic Phlebotomy

Therapeutic phlebotomy is a procedure that removes blood (and iron) from your body. A needle is inserted into a vein and your blood flows through an airtight tube in a sterile container or bag.

The process is similar to donating blood; it can be done in blood donation centers, hospital donation centers, or a doctor's office.

In the first phase of treatment, about 1 liter of blood is removed once or twice a week. After your iron levels return to normal, you can continue with bloodletting. However, you may need them less often, usually every 2 to 4 months.

While treatment continues, which is often for the rest of your life, you will need regular blood tests to check your iron levels.

Iron chelation therapy

Iron chelation therapy uses drugs to remove excess iron from your body. This treatment is a good option for people who cannot routinely remove blood.

The medicine used in iron chelation therapy is either injected or taken orally (by mouth). Injected iron chelation therapy is done in a doctor's office. Oral iron chelation therapy can be done at home.

Dietary changes

Your doctor may recommend that you change your diet if you have hemochromatosis. You may be advised to:

• Avoid taking iron, including iron pills, iron injections, or multivitamins that contain iron.
• Limit your intake of vitamin C. Vitamin C helps your body absorb iron from food. Talk to your doctor about how much vitamin C is safe for you.
• Avoid uncooked fish and shellfish. Some fish and shellfish contain bacteria that can cause infections in people with chronic illnesses, such as hemochromatosis.
• Limit alcohol consumption. Drinking alcohol increases the risk of liver disease. It can also make existing liver disease worse.

Treatment for complications

Your doctor can prescribe other treatments needed for complications such as liver disease, heart problems, or diabetes.

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