Hereditary hemochromatosis (he-moe-kroe-muh-TOE-sis) causes your body to absorb too much iron from the food you eat. The excess iron is stored in your organs, especially your liver, heart and pancreas. The excess iron can poison these organs, leading to life-threatening conditions such as cancer, heart arrhythmias and cirrhosis.
Many people inherit the faulty genes that cause hemochromatosis — it is the most common genetic disease in Caucasians. But only a minority of those with the genes develop serious problems. Hemochromatosis is more likely to be serious in men.
Signs and symptoms of hereditary hemochromatosis usually appear in midlife. Iron can be dropped to safe levels by regularly removing blood from your body.
The liver is your largest internal organ. About the size of a football, it's located mainly in the upper right portion of your abdomen, beneath the diaphragm and above your stomach. ...
Some people with hereditary hemochromatosis never have symptoms. Early signs and symptoms often are nonspecific, mimicking those of other common conditions. Common symptoms include:
First signs and symptoms of the disease in men are often from organ damage. They include:
When signs and symptoms typically appear
When to see a doctor
Hereditary hemochromatosis is caused by a mutation in a gene that controls the amount of iron your body absorbs from the food you eat. The mutations that cause hereditary hemochromatosis are passed from parents to children.
Gene mutations that cause hemochromatosis
How hemochromatosis affects your organs
In hemochromatosis, the normal role of hepcidin is disrupted and your body absorbs more iron that it needs. This excess iron is stored in the tissues of major organs, especially your liver. Too much iron is toxic to your body, and over a period of years, the stored iron can severely damage many organs, leading to organ failure and chronic diseases such as cirrhosis, diabetes and heart failure.
Though many people have faulty genes that cause hemochromatosis, only about 10 percent of them have iron overload to the degree that causes tissue and organ damage.
Other types of hemochromatosis
Factors that increase your risk of hereditary hemochromatosis include:
Untreated, hereditary hemochromatosis can lead to a number of complications, especially in your joints and in organs where excess iron tends to be stored — your liver, pancreas and heart. Complications can include:
Normal liver vs. liver cirrhosis
A normal liver (left) shows no signs of scarring. In cirrhosis (right), scar tissue replaces normal liver tissue. ...
Preparing for your appointment
Make an appointment with your family doctor if you have any signs or symptoms that worry you. You may be referred to a specialist in digestive diseases (gastroenterologist), or to another specialist, depending on your symptoms. Here's some information to help you get ready for your appointment, and what to expect from your doctor.
What you can do
Questions to ask your doctor
Don't hesitate to ask other questions during your appointment.
What to expect from your doctor
Tests and diagnosis
Hereditary hemochromatosis can be difficult to diagnose. Early symptoms such as stiff joints and fatigue can result from many other conditions more common than hemochromatosis. Many people with the disease don't have any signs or symptoms other than elevated levels of iron in their blood. Most cases of hemochromatosis today are identified because of abnormal blood tests done for other reasons or from screening of family members of people diagnosed with the disease.
Because a number of other conditions can also cause elevated ferritin, both blood tests are needed to diagnose the disorder. You may need to have the tests repeated for the most accurate results.
Screening healthy people for hemochromatosis
Treatments and drugs
Treating hereditary hemochromatosis can help alleviate symptoms of tiredness, abdominal pain and skin darkening. It can help prevent serious complications such as liver disease, heart disease and diabetes. If you already have one of these conditions, phlebotomy may slow the progression of the disease, and in some cases even reverse it.
If you have hemochromatosis but no complications of cirrhosis or diabetes, you have the same life expectancy as a healthy person of your same age.
Phlebotomy will not reverse cirrhosis or improve joint pain.
If you have cirrhosis, your doctor may recommend periodic screening for liver cancer. This usually involves an abdominal ultrasound and a blood test.
Chelation for those who can't undergo blood removal
Lifestyle and home remedies
You may reduce your risk of complications from hemochromatosis if you:
Last Updated: 2012-12-13
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