Hemochromatosis

What Is It?

Hemochromatosis is a common genetic (inherited) disorder in which increased amounts of iron are absorbed from the digestive tract. This excess iron is deposited in the tissues and organs of the body, where it can become toxic and cause damage.

Hemochromatosis occurs most often in people of northern European ancestry, especially those of Scottish, Irish or English descent, and affects up to one in 250 people in the United States. Hemochromatosis most commonly is diagnosed in people between ages 40 and 60. In women, it usually is diagnosed after menopause.

Symptoms

The early symptoms of hemochromatosis are nonspecific and highly variable. They include:

• Weakness
• Weight loss
• Joint pain
• Abdominal pain
• Heart palpitations
• Shortness of breath
• Irritability
• Impotence
• Depression
• Loss of body hair

As the condition progresses, your skin may take on a bronze or yellowish color. Progressive deposits of iron in the tissues and organs can lead to organ failure, especially of the liver (cirrhosis), which can cause confusion, bleeding, fluid accumulation in the legs and abdomen, black or bloody stools, and jaundice. Deposits of iron in the heart can cause heart failure or an irregular heartbeat. If the pancreas is involved, you also can develop diabetes, which can cause symptoms of frequent urination and excessive thirst.

Diagnosis

Your doctor will take a complete medical history, conduct a physical examination and order several tests to measure the amount of iron in your blood. A liver biopsy often is recommended to confirm the diagnosis. In this procedure you will receive a local anesthetic and a small piece of tissue from your liver will be removed for analysis in a laboratory. Some experts recommend screening all adults for this disorder, regardless of symptoms. Testing is available for two of the more common genes associated with this disorder (found in up to 90 percent of people with hemochromatosis), but not all carriers of the genes develop the disease.

Expected Duration

Hemochromatosis is a lifelong condition.

Prevention

There is no way to prevent hemochromatosis, because the disorder is inherited. However, complications of the disease, including cirrhosis, arthritis, heart failure and diabetes, may be prevented by early detection and treatment. Avoiding supplemental iron (as in vitamins) and high doses of vitamin C (which frees iron to deposit in the tissues) also may help to prevent complications of iron overload.