Hemochromatosis

Hemochromatosis is a condition that causes iron to build up in the body, leading to multiple health issues. Hemochromatosis affects men two to three times as often as women.

What Is Hemochromatosis?

With hemochromatosis, excess iron accumulates in many tissues and causes organ damage, particularly the heart, liver and pancreas. If left untreated, hemochromatosis can lead to a variety of serious health problems, including heart disease and liver disease.

Causes of Hemochromatosis

There are two main types of hemochromatosis, each with different causes.
Primary hemochromatosis, also called hereditary hemochromatosis, is a group of inherited genetic disorders that cause the body to absorb too much iron from food.

Normally, the genes that cause primary hemochromatosis help maintain a healthy balance of iron in the body. There are four types of primary hemochromatosis, classified by the age the condition is first detected as well as genetic causes and how the genes were inherited.

Secondary hemochromatosis, also called secondary iron overload, usually occurs when treatment for other medical conditions — such as blood transfusions for sickle cell anemia or thalassemia. Excess intake of iron in the diet is another common cause.

Signs and Symptoms of Hemochromatosis

Hemochromatosis does not always cause problems. When symptoms do occur, they can range from mild to severe and may include:

• abdominal pain
• arrhythmia, or abnormal heartbeat
• discoloration of the skin, causing a grey, bronze or metallic color
• diabetes mellitus
• enlarged, swollen liver
• fatigue or weakness
• hair loss
• joint pain and stiffness
• loss of sex drive or sexual function
• cardiomyopathy, a condition that can lead to heart failure
• liver scarring, or cirrhosis
• osteoporosis, a weakening of the bones
• spoon-shaped fingernails

How Is Hemochromatosis Diagnosed?

In addition to a physical examination, review of medical history and discussion of symptoms, diagnostic methods include:

• blood tests to measure levels of transferrin, the protein that carries iron in the blood; and ferritin, the protein that stores iron in the liver
• magnetic resonance imaging (MRI) to measure liver density due to iron build-up
• genetic tests to look for associated mutations
  In some cases, a liver biopsy may be needed to confirm the presence of excess iron deposits and look for evidence of liver damage.

In some cases, a liver biopsy may be needed to confirm the presence of excess iron deposits and look for evidence of liver damage.

Treatments for Hemochromatosis

Treatment for hemochromatosis aims to reduce iron in the body to normal levels through:

• phlebotomy, a therapeutic procedure that removes blood and the excess iron it contains from the body
• iron chelation therapy, which uses medication to lower iron levels

Any complications of hemochromatosis, such as heart disease or liver disease, will require additional treatment. 
Dietary changes such as a plant-based diet may also be beneficial. Some plants do contain iron, but in a form that is harder for the body to absorb (non-heme iron). In addition, plants contain phytic acid, calcium and polyphenols, which all inhibit iron absorption.

Eat more:

• beans
• calcium-rich foods such as yogurt, milk, cheese and tofu
• cooked fish and eggs
• fresh fruits and vegetables
• nuts and seeds
• unfortified whole grains in bread, cereal, oats and bran

Avoid:

• alcohol, which can damage the liver
• iron-fortified foods such as breads and cereals
• iron in multivitamins and other supplements
• raw or undercooked shellfish, which contains bacteria that can cause serious infections
• raw fish
• red meat
• vitamin C supplements, which can increase absorption of iron