Hemochromatosis has over 30 different symptoms associated with it, and the disease can be extremely difficult to diagnose. Many of the early symptoms of hemochromatosis are nonspecific, which means they can also be caused by medical problems not related to hemochromatosis.

Early Symptoms
Later Symptoms
What Is Iron Overload?
When Will Symptoms Appear?
Prevention

Early Symptoms

Symptoms may begin anywhere from age 40 to 60, although in some rare cases they occur as early as 20. Early symptoms of hereditary hemochromatosis include:

• Weakness
• Fatigue
• Apathy
• Abdominal pain
• General muscle aches
• Loss of libido
• Impotence (men)
• Cessation of monthly menstrual cycles (women)
• Joint pain
• Shortness of breath on exertion
• Increased skin pigmentation (a bronze color)
• Loss of body hair
• Unexplained weight loss

During a physical examination, a doctor might also note an enlarged liver (called hepatomegaly) and increased skin pigmentation, which indicates the early stages of the disease. If the disease is diagnosed at this stage, treatment can begin that will reduce the chances of getting other, more serious complications.

Later Symptoms

If hemochromatosis remains undiagnosed and untreated, iron will continue to build up in the organs. Other more serious health problems can develop, including diabetes mellitus (from iron in the pancreas), cardiomyopathy (a stiff heart that doesn't function efficiently, due to iron buildup in the heart), liver dysfunction, and cirrhosis of the liver.

Cirrhosis of the liver can lead to liver cancer, which occurs in about 10 to 30 percent of men who have cirrhosis due to hemochromatosis. Unfortunately, if hemochromatosis is diagnosed at this late stage, it does not respond to treatment as well because organs have already been damaged.

However, if the diagnosis is made before liver cirrhosis develops, life expectancy is normal, and with treatment, almost all other complications of iron overload can be reversed or stopped from progressing.

What Is Iron Overload?

How does a build up of iron cause all of these health problems? Iron is essential for the body to conduct many necessary functions. In disorders like anemia, for example, people don't have enough iron and need to take iron supplements. But too much iron can also be harmful. Excess iron is toxic — it causes organ damage.

Normally we get 10 to 20 milligrams of iron a day in our diet, however, our body typically only absorbs 1 to 2 milligrams of that amount. The rest is not absorbed, and some is lost in any skin cells that are shed.

By contrast, people with hereditary hemochromatosis absorb 3 to 4 milligrams of iron through the intestine (about twice the normal amount), and the body does not have any way to get rid of it.

Over decades, this iron builds up in they body's organs, including the heart, liver, and pancreas. Iron accumulation results in organ damage and other conditions, such as diabetes and heart arrhythmias, that are signs that the organs are sick.

It takes a long time for organs to receive enough damage from excess iron before they begin to malfunction. Storing excess iron begins in childhood, but the symptoms of this disorder do not usually appear until adulthood. Symptoms begin to occur when the body has stored 20 grams or more of iron — which can take 40 to 60 years.

When Will Symptoms Appear?

Many factors effect when the symptoms of hemochromatosis may appear.

• Alcohol. Because alcohol is also toxic to the liver, liver disease may occur earlier due to the combined effects of alcohol and iron.
• Diet. People who take vitamin supplements that contain iron, or take vitamin C, which increases the body's effectiveness at absorbing iron, may have symptoms at a younger-than-average age. Also, raw seafood and food that is high in iron content (such as spinach, broccoli, liver, and red meat) will increase the risk for developing hemochromatosis.
• Gender. Men are 5 to10 times as likely to go to their doctor with symptoms of hereditary hemochromatosis than women. In untreated men, symptoms usually begin between age 40 and 60. For women, the symptoms usually start later, between age 50 and 65. One reason for this is that women have regular episodes of blood loss (and thus lose iron) through menstruation or childbirth.
• Blood loss. Individuals who lose iron through blood donation may also delay the onset of symptoms.
• Mutation type. There are two common mutations in a gene called HFE, which is known to cause hereditary hemochromatosis. One of these two mutations, called H63D, is associated with a less severe and later-onset form of hemochromatosis. People who have one or two copies of this mutation have a milder form of the disease compared to people who have two copies of the other common mutation (called C282Y).

More On: Genetics of Hemochromatosis

Prevention

The good news is that the earlier hemochromatosis is diagnosed, the easier and more successful treatment can be and the less likely it is that organ damage will have occurred.

If you have a predisposition to abnormal iron storage, you can prevent the buildup of excess iron and the damage it causes by a regular loss of iron through blood draws and by avoiding iron supplements and high doses of vitamin C. The treatment for a person with hemochromatosis includes getting iron levels back to normal, as well as specific treatment for any organ damage.