Hemochromatosis

Hemochromatosis

Ironing Out the Problem

Lately, you've felt as lifeless as a bowl of soggy cornflakes. Anemia, you thought. But after you started taking iron supplements, you felt even more drained. Now your joints are stiff, and your belly aches. You feel like your body is rusting from the inside out.

This is exactly what's happening to the 1 in 200 American women who has hemochromatosis, a genetic disease that causes the body to horde excessive amounts of iron, which then attacks organs such as the liver, heart and pancreas. It may be one of life's most insidious and catastrophic agers. Unless it's detected and treated early, the disease can also lead to arthritis, diabetes, cancer, even premature death.

"Hemochromatosis can certainly slow you down prematurely. If it causes fatigue, you can feel like you're 80 when you're only 40," says Jerome L. Sullivan, M.D., Ph.D., a pathologist and director of clinical laboratories at the Veterans Affairs Medical Center in Charleston, South Carolina.

The Family Connection

Hemochromatosis occurs when a woman inherits a pair of abnormal genes from her mother and father. Once considered a rare ailment, it is now believed to be one of the most common inherited diseases, afflicting more people than cystic fibrosis, Huntington's disease and muscular dystrophy combined, according to Randall Lauffer, Ph.D., assistant professor at Harvard Medical School in Boston and author of Iron and Your Heart. About 500,000 women in the United States may have the disease.

What happens when you have it? Normally, you store small amounts of iron in your body and stop absorbing it when you have enough in reserve. If you have hemochromatosis, however, your body doesn't know when it has enough iron. So you keep absorbing the mineral--often to the point where you can actually set off metal detectors. Symptoms of hemochromatosis can appear at any age. It has been detected in children as young as age 2 and in men as old as 101.

Once iron is in your body, it's there to stay--unless you bleed (iron is a major component of red blood cells). That may be why many women don't develop symptoms of hemochromatosis until after they go through menopause and stop having their periods, which help rid their bodies of at least some excess iron, says William H. Crosby, M.D., director of hematology at Chapman Cancer Center in Joplin, Missouri. If you don't lose iron through bleeding, your body will cram the mineral into every major organ to the point that some women with hemochromatosis have up to 100 times more iron concentrated in their livers, 15 times more iron in their hearts and 5 times more iron in their kidneys than an average person.

In excess amounts, iron generates free radicals, chemically unstable oxygen molecules that can damage the heart and liver and accelerate the aging process throughout the body, Dr. Lauffer says.

"That excess iron is a true poison and can increase your risk of cancer," says Sylvia Bottomley, M.D., a hematologist at the University of Oklahoma Health Sciences Center in Oklahoma City.

Women with hemochromatosis, for example, are 200 times more likely to develop liver cancer than an average person. In addition, excess iron can lead to cirrhosis, an incurable ailment that causes scar tissue and eventually destroys the liver, Dr. Sullivan says.

Excess iron also interferes with the pumping ability of the heart and leads to a form of heart disease called congestive cardiomyopathy, which causes enlargement of the heart muscle. This condition is 300 times more fatal among women with hemochromatosis than among the population at large.

Hemochromatosis can also turn the skin bronze and damage the pituitary gland, causing lowered sex drive, infertility and a disruption in the menstrual cycle.

Fortunately, some complications of hemochromatosis, including heart disease, are reversible if the disease is diagnosed and treated early. But hemochromatosis often does much of its damage before symptoms appear.

"It's an insidious disease. It comes on gradually. It's like being a lobster in the pot. You're cooked before you realize you're in the pot and water is boiling," Dr. Sullivan says.

Even when symptoms are present, hemochromatosis often eludes detection because it has no standard pattern of onset.

"It hits a lot of different organs, so the first symptom may be different in different people," Dr. Sullivan says. "There really isn't a reliable initial symptom of it. The classic findings are heart disease, diabetes, cirrhosis, fatigue and bronzing of the skin. But I've met a woman whose first symptom was just hip pain. It's unpredictable and very confusing."

Doctors are often confounded by the disease. Some may treat the complications, such as diabetes or arthritis, without realizing that hemochromatosis is the underlying cause, Dr. Crosby says. In some cases, women with hemochromatosis end up seeing several physicians before getting proper diagnoses.

Getting the Iron Out

Once it has been diagnosed, hemochromatosis is treated by removing blood. Bleeding works because a pint of blood contains about 200 milligrams of iron and because it forces the bone marrow to draw on the body's iron stores in order to replenish removed red blood cells with new ones.

Depending on the amount of excess iron, a woman may need to have bleedings, called phlebotomies, once or twice a week for up to three years to get her iron stores down to normal levels. After that, she will need to have phlebotomies every three or four months for the rest of her life in order to prevent new iron buildup, Dr. Bottomley says.

Women who have phlebotomies early, before damage to their vital organs is widespread, can have normal life expectancies, Dr. Crosby says. Skin color usually returns to normal, and fatigue and heart disease are often relieved. In addition, bleeding can sometimes alleviate the symptoms of diabetes and correct liver function.

"If you need 150 phlebotomies to get rid of iron in your body, you can see it's going to be an arduous road, but it's very doable," Dr. Bottomley says. "When you start having phlebotomies, you're not going to feel better tomorrow, but you should within a few months."

For more information, contact the Iron Overload Disease Association, 433 Westwind Drive, North Palm Beach, FL 33408, or the Hemochromatosis Foundation, P.O. Box 8569, Albany, NY 12208. In addition, here are a few things that can make this disease easier to live with.

Get tested. By the time symptoms show up, there may be permanent damage to your vital organs. So detecting hemochromatosis early is critical, particularly if you have a parent or sibling who has the disease, says Margit Krikker, M.D., founder and president of the Hemochromatosis Foundation. Ask your doctor to do a blood test called transferrin saturation index, which shows how much iron is in your blood.

Stay away from supplements. Never take iron supplements without your doctor's permission, Dr. Sullivan advises. Some women assume that when they feel worn down, they have iron-poor blood. But hemochromatosis can also cause fatigue, and taking supplements could make your symptoms worse.

Eat a healthy diet. While avoiding iron-rich foods may seem to be sensible, it isn't that practical or wise, says Dr. Krikker. That's because many iron-laden vegetables and meats such as potatoes, broccoli and tuna also have other indispensable nutrients. Other important foods are fortified with iron, such as cereals and grains.

Keep in mind that iron is actually a small part of your diet and that you store it very slowly, says Dr. Krikker. It's the total accumulation of it over the years that causes problems. Once you begin having phlebotomies, many of those problems should be behind you.

So eating a balanced diet that includes poultry, fish, grains, fruits, vegetables and dairy products such as cheese and milk is still your best bet.