What is Hemochromatosis?

Hemochromatosis is a common genetic (inherited) disorder in which too much iron is 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 1 in 200 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 vary a lot from person to person and are general symptoms that also occur in other conditions. In fact, there may be no symptoms in the early stages of the disease. Symptoms 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. The disease can lead to organ failure, especially liver failure (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 frequent urination and excessive thirst.  

Diagnosis

Your doctor will ask you details about your medical history, will examine you, and will order several tests to measure the amount of iron in your blood. A liver biopsy may be 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 that all adults have a test to measure the amount of iron in the blood as a screen for this disorder. However, there is no general agreement that this approach is useful. 

Genetic testing is available for some of the more common genes associated with this disorder (found in up to 90% of people with hemochromatosis), but not everyone who has the genes develops the disease. For people with an abnormally high level of iron in the blood and a positive genetic test, liver biopsy may be unnecessary.  

Magnetic resonance imaging (MRI) of the liver can also assist in making the diagnosis. The test can measure the amount of iron in the liver. A very high level strongly suggests hemochromatosis. 

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 contained in supplements and many vitamins) and high doses of vitamin C (which frees iron to deposit in the tissues) also may help to prevent complications of iron overload. 

Family members of anyone diagnosed with hemochromatosis should be screened for the condition. 

People with hemochromatosis should be vaccinated against hepatitis A and hepatitis B, and should avoid substances that can injure the liver, such as too much acetaminophen or alcohol.

Treatment

The traditional treatment for hemochromatosis is periodic removal of blood (phlebotomy), as is done during blood donation. Blood may be removed as often as once a week until iron levels fall to normal. After that, phlebotomy usually needs to be done about every two to four months to keep iron levels in the blood at an acceptable level. Your blood count will be monitored to make sure that too much blood is not being removed, which can lead to anemia. You may be given recommendations to modify your diet. You also may need treatment for specific disorders, such as diabetes.  

Another approach to treatment is called chelation therapy, in which a medication called defer="defer"oxamine (Desferal) binds to iron, removing it from the body and lowering the amount of stored iron. However, phlebotomy is so effective and simple that chelation therapy is rarely necessary.

Treatment options

The following list of medications are in some way related to or used in the treatment of this condition.

• deferasirox

When To Call a Professional

Call your doctor if you have a family history of hemochromatosis or are starting to experience any symptoms of the disease. 

Prognosis

With early diagnosis and treatment, the serious consequences of iron overload in the body can often be avoided. However, once tissue damage has developed, problems related to that damage, such as arthritis or diabetes, are usually long lasting. A liver transplant is sometimes necessary for people with advanced liver failure, and people with hemochromatosis and cirrhosis of the liver are more likely to develop a form of liver cancer called hepatoma. Screening tests, including ultrasound and blood tests, may detect hepatoma at a curable stage. 

Additional Info

National Institutes of Health (NIH)
http://www.nih.gov/

National Institute of Diabetes and Digestive and Kidney Diseases
http://www.niddk.nih.gov/