Hemochromatosis is a common disorder in which there is a high level of iron accumulates in the tissues and organs in the body. Hemochromatosis is a type of iron overload disease and can result in serious, even life-threatening complications if left untreated.
Hemochromatosis is usually inherited and due to a recessive, defective gene that causes the body to store too much iron. This is also called with hereditary hemochromatosis
Iron is a metal that is vital to health in small amounts. It is needed for normal oxygen transport and cell growth and ingested through foods such as liver, red meats and leafy green vegetables. In hemochromatosis the body absorbs extra iron from food and cannot effectively eliminate the excess.
This iron overload of hemochromatosis builds up in organs and tissues and can eventually result in serious harm to the liver, heart, pancreas, pituitary gland, joints and other tissues of the body. When diagnosed and treated early, people with hemochromatosis can generally expect to live normal, healthy lives.
People with hereditary hemochromatosis are born with the disorder, but symptoms often don't appear until middle age when tissue and organ damage occurs. Early symptoms can be vague and include weakness, fatigue, weight loss and abdominal pain. As the disease progresses, symptoms become more severe and may include shortness of breath and chronic abdominal pain.
If hemochromatosis is not diagnosed and treated, it can lead to serious, even life-threatening complications, such as heart failure, liver cirrhosis, liver failure and death. For more information on symptoms and complications, refer to symptoms of hemochromatosis.
Making a diagnosis of hemochromatosis begins with taking a thorough personal and family medical history, including symptoms, and completing a physical examination.
Diagnostic testing includes blood tests that can determine if iron overload is present. These include the transferrin saturation test and the serum ferritin test. There is also a test that can be done to determine if a patient has a specific genetic mutation that causes hemochromatosis. People who have a family history of hemochromatosis should seek diagnostic medical testing for the disease even in the absence of symptoms.
Additional tests, such as X-ray, CT, MRI, EKG, liver function tests and other blood and urine tests, may be performed in order to rule out or confirm the development of complications, such as liver damage, heart failure, arthritis or diabetes.
It is possible that a diagnosis of hemochromatosis can be missed or delayed because symptoms generally do not appear until middle age, and some symptoms are similar to those of other conditions. In addition, screening for hemochromatosis is not routinely done. For more information on misdiagnosis, refer to misdiagnosis of hemochromatosis.
Hemochromatosis can be successfully treated, minimizing the risk of developing complications if diagnosed early. It is treated with a procedure called phlebotomy. For more information on treatment, refer to treatment of hemochromatosis. ...more »
Hemochromatosis: Hemochromatosis is genetic disease, affecting around 1-in-200 to 1-in-300, where excessive iron builds up in the body and gradually damages various body organs. Over time it damages the joints (causing arthritis), liver (causing liver disease), heart (causing heart disease), and pancreas (causing diabetes). Because it has no early symptoms, hemochromatosis is often undiagnosed until serious organ damage causes other conditions or symptoms. Even at this stage, hemochromatosis may be overlooked as the underlying cause with a diagnosis of arthritis, liver disease, heart disease or diabetes given. This is unfortunate because hemochromatosis is usually treatable to at least stop and often to reverse the organ damage. ...more »
Hemochromatosis results in the build-up of high levels of iron in the body, called iron overload. People with hereditary hemochromatosis, the most common form of hemochromatosis, have the disorder from birth, but generally do not begin to experience symptoms until they are in middle age.
Iron overload progresses over years and can eventually lead to organ and tissue damage. ...more symptoms »
Early diagnosis and treatment of hemochromatosis is vital to preventing serious, even life-threatening complications, such as diabetes, liver cirrhosis, liver cancer, hypopituitarism and heart failure. Once tissue and organ damage has been done, it may not be possible to reverse it. However, treatment can prevent further damage and improve symptoms.
Treatment ...more treatments »
A diagnosis of hemochromatosis may be overlooked or delayed because hemochromatosis is common, but is generally not screened for on a routine physical or office visit. In addition, symptoms generally do not appear until middle age and can be nonspecific and common symptoms of many other conditions. These include aging, menopause, perimenopause, chronic fatigue ...more misdiagnosis »
See full list of 15 symptoms of Hemochromatosis
See full list of 9 treatments for Hemochromatosis
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Hemochromatosis, the most common form of iron overload disease, is an inherited disorder that causes the body to absorb and store too much iron. The extra iron builds up in organs and damages them. Without treatment, the disease can cause these organs to fail. (Source: excerpt from Hemochromatosis: NIDDK)
A disorder due to the deposition of hemosiderin in the parenchymal cells, causing tissue damage and dysfunction of the liver, pancreas, heart, and pituitary. Full development of the disease in women is restricted by menstruation, pregnancy, and lower dietary intake of iron. Acquired hemochromatosis may be the result of blood transfusions, excessive dietary iron, or secondary to other disease. Idiopathic or genetic hemochromatosis is an autosomal recessive disorder of metabolism associated with a gene tightly linked to the A locus of the HLA complex on chromosome 6. (From Dorland, 27th ed) - (Source - Diseases Database)
Pathology in which iron accumulates in the tissues; characterized by bronzed skin and enlarged liver and diabetes mellitus and abnormalities of the pancreas and the joints - (Source - WordNet 2.1)
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