Hemochromatosis HE-mo-kro-ma-TO-sis is a disease in which too much iron builds up in your body iron overload. Iron is a mineral found in many foods. Too much iron is toxic to your body. It can poison your organs and cause organ failure.
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Hemochromatosis HE-mo-kro-ma-TO-sis is a disease in which too much iron builds up in your body iron overload. Iron is a mineral found in many foods. Too much iron is toxic to your body.
It can poison your organs and cause organ failure. In hemochromatosis, iron can build up in most of your body's organs, but especially in the liver, heart, and pancreas. Too much iron in the liver can cause an enlarged liver, liver failure, liver cancer, or cirrhosis sir-RO-sis. Cirrhosis is scarring of the liver, which causes the organ to not work well. Too much iron in the heart can cause irregular heartbeats called arrhythmias ah-RITH-me-ahs and heart failure.
Too much iron in the pancreas can lead to diabetes. The two types of hemochromatosis are primary and secondary. Primary hemochromatosis is caused by a defect in the genes that control how much iron you absorb from food.
Secondary hemochromatosis usually is the result of another disease or condition that causes iron overload. Most people who have primary hemochromatosis inherit it from their parents. If you inherit two hemochromatosis genes—one from each parent—you're at risk for iron overload and signs and symptoms of the disease. The two faulty genes cause your body to absorb more iron than usual from the foods you eat. Hemochromatosis is one of the most common genetic disorders in the United States.
However, not everyone who has hemochromatosis has signs or symptoms of the disease. Estimates of how many people develop signs and symptoms vary greatly. Some estimates suggest that as many as half of all people who have the disease don't have signs or symptoms. The severity of hemochromatosis also varies. Some people don't have complications, even with high levels of iron in their bodies. Others have severe complications or die from the disease.
Certain factors can affect the severity of the disease. For example, a high intake of vitamin C can make hemochromatosis worse. This is because vitamin C helps your body absorb iron from food. Alcohol use can worsen liver damage and cirrhosis caused by hemochromatosis. Conditions such as hepatitis also can further damage or weaken the liver.
The outlook for people who have hemochromatosis largely depends on how much organ damage they have at the time of diagnosis. Early diagnosis and treatment of the disease are important. Treatment may help prevent, delay, or sometimes reverse complications of the disease. Treatment also may lead to better quality of life. For people who are diagnosed and treated early, a normal lifespan is possible. If left untreated, hemochromatosis can lead to severe organ damage and even death.
This form of the disease sometimes is called hereditary or classical hemochromatosis. Primary hemochromatosis is more common than the secondary form of the disease. The genes usually involved in primary hemochromatosis are called HFE genes. Faulty HFE genes cause the body to absorb too much iron. If you inherit two copies of the faulty HFE gene one from each parent , you're at risk for iron overload and signs and symptoms of hemochromatosis.
However, they can pass the faulty gene on to their children. Estimates suggest that about 1 in 10 people in the United States are hemochromatosis carriers.
If two parents are carriers of the faulty HFE gene, then each of their children has a 1 in 4 chance of inheriting two faulty HFE genes. Although less common, other faulty genes also can cause hemochromatosis. Researchers continue to study what changes to normal genes may cause the disease. Examples of such diseases and conditions include:. Hemochromatosis is one of the most common genetic diseases in the United States.
It's most common in Caucasians of Northern European descent. Primary hemochromatosis is more common in men than in women. Also, older people are more likely to develop the disease than younger people.
In fact, signs and symptoms usually don't occur in men until they're 40 to 60 years old. In women, signs and symptoms usually don't occur until after the age of 50 after menopause. Young children rarely develop hemochromatosis.
Inheriting two faulty HFE genes one from each parent is the major risk factor for hemochromatosis. However, many people who have two copies of the faulty gene don't develop signs or symptoms of the disease. Alcoholism is another risk factor for hemochromatosis. A family history of certain diseases and conditions also puts you at higher risk for hemochromatosis. Examples of such diseases and conditions include heart attack , liver disease, diabetes , arthritis, and erectile dysfunction impotence.
You can't prevent primary, or inherited, hemochromatosis. However, not everyone who inherits hemochromatosis genes develops symptoms or complications of the disease. In those who do, treatments can keep the disease from getting worse.
Treatments include therapeutic phlebotomy, iron chelation therapy, dietary changes, and other treatments. For more information, go to "How Is Hemochromatosis Treated? People who have hemochromatosis or a family history of it and are planning to have children may want to consider genetic testing and counseling.
Testing will help show whether one or both parents have faulty HFE genes. A genetic counselor also can help figure out the likelihood of the parents passing the faulty genes on to their children.
Hemochromatosis can affect many parts of the body and cause various signs and symptoms. Many of the signs and symptoms are similar to those of other diseases. Signs and symptoms of hemochromatosis usually don't occur until middle age. Women are more likely to have general symptoms first, such as fatigue tiredness. In men, complications such as diabetes or cirrhosis scarring of the liver often are the first signs of the disease. Signs and symptoms also vary based on the severity of the disease.
Common signs and symptoms of hemochromatosis include joint pain, fatigue, general weakness, weight loss, and stomach pain. Not everyone who has hemochromatosis has signs or symptoms of the disease.
Your doctor will diagnose hemochromatosis based on your medical and family histories, a physical exam, and the results from tests and procedures. The disease sometimes is detected while checking for other diseases or conditions, such as arthritis, liver disease, diabetes , heart disease, or erectile dysfunction impotence.
Family doctors and internal medicine specialists may diagnose and treat hemochromatosis. Other doctors also may be involved in diagnosing and treating the disease, including:. Your doctor will do a physical exam to check for signs and symptoms of hemochromatosis. He or she will listen to your heart for irregular heartbeats and check for arthritis, abnormal skin color, and an enlarged liver. In hemochromatosis, the amount of iron in your body may be too high, even though the level of iron in your blood is normal.
Certain blood tests can help your doctor find out how much iron is in your body. During these tests, a sample of blood is taken from your body. It's usually drawn from a vein in your arm using a needle.
The procedure usually is quick and easy, although it may cause some short-term discomfort. The blood tests you have may include transferrin saturation TS , serum ferritin level, and liver function tests.
Transferrin is a protein that carries iron in the blood. The TS test shows how much iron the transferrin is carrying. This helps your doctor find out how much iron is in your body. Your doctor may test your serum ferritin level if your TS level is high.
A serum ferritin level test shows how much iron is stored in your body's organs. A buildup of iron may suggest hemochromatosis. You may have liver function tests to check for damage to your liver. Liver damage may be a sign of hemochromatosis. If you have hemochromatosis, liver function tests may show the severity of the disease. Blood tests alone can't diagnose hemochromatosis. Thus, your doctor may recommend other tests as well. During a liver biopsy, your doctor numbs an area near your liver and then removes a small sample of liver tissue using a needle.
The tissue is then looked at under a microscope. A liver biopsy can show how much iron is in your liver. This procedure also can help your doctor diagnose liver damage for example, scarring and cancer.
July is National Hemochromatosis Awareness Month
Hereditary hemochromatosis is an autosomal recessive disorder that disrupts the body's regulation of iron. It is the most common genetic disease in whites. Men have a fold increased rate of iron-overload disease compared with women. Persons who are homozygous for the HFE gene mutation CY comprise 85 to 90 percent of phenotypically affected persons.
Hereditary hemochromatosis is a genetic disorder that can cause severe liver disease and other health problems. Early diagnosis and treatment is critical to prevent complications from the disorder. Hemochromatosis is a disorder in which the body can build up too much iron in the skin, heart, liver, pancreas, pituitary gland, and joints. Too much iron is toxic to the body and over time the high levels of iron can damage tissues and organs and lead to. In the United States, about 1 in non-Hispanic whites has hereditary hemochromatosis, with lower rates among other races and ethnicities. Early symptoms, such as feeling tired or weak, are common and can cause hemochromatosis to be confused with a variety of other diseases.