Hereditary hemochromatosis (he-mo-kro-mah-TOE-sis), an inherited condition, 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. If you have hereditary hemochromatosis, the stored iron damages these organs, leading to life-threatening conditions such as cancer, heart problems and liver disease.
Signs and symptoms of hereditary hemochromatosis usually appear in midlife, although they may occur earlier. Hereditary hemochromatosis can cause a number of signs and symptoms, including joint pain, fatigue, abdominal pain and impotence. Though not always easy to diagnose, hereditary hemochromatosis can be effectively treated by removing blood from your body to lower the level of iron.
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, but a small ...
Early signs and symptoms of hereditary hemochromatosis mimic those of many other common conditions, making it difficult to diagnose. Signs and symptoms include:
Some people with hereditary hemochromatosis never have symptoms. Others experience a wide range of problems. These can vary considerably from person to person and may be different for men and women.
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
But if you have hereditary hemochromatosis, you may absorb as much as 30 percent of the iron you ingest. Because your body can't use or eliminate this extra iron, it's stored in the tissues of major organs, especially your liver. Eventually you may accumulate five to 20 times as much iron as normal. Over a period of years, the stored iron can severely damage many organs, leading to organ failure and chronic diseases such as cirrhosis and diabetes.
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:
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. Because appointments can be brief, and because there's often a lot of ground to cover, it's a good idea to be well prepared. Here's some information to help you get ready for your appointment, and what to expect from your doctor.
What you can do
Your time with your doctor is limited, so preparing a list of questions can help you make the most of your time together. List your questions from most important to least important in case time runs out. For hereditary hemochromatosis, some basic questions to ask your doctor include:
In addition to the questions that you've prepared to ask your doctor, don't hesitate to ask 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 a number of conditions that are more common than hemochromatosis.
Because a number of infectious and inflammatory conditions other than hereditary hemochromatosis can 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 before damage to your organs has occurred prevents 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 cirrhosis, your doctor may recommend periodic screening for liver cancer. This usually involves an abdominal ultrasound and a blood test.
A medication 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: 2010-09-11
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