Hemochromatosis
Hemochromatosis is a hereditary condition characterized by excessive iron absorption and accumulation in various organs, primarily due to a mutation in the HFE gene. This multisystem disease can lead to significant health issues as excess iron deposits primarily affect the liver, pancreas, heart, skin, and joints. Symptoms may include diabetes mellitus, bronzelike skin pigmentation, joint pain, decreased libido, erectile dysfunction, and abnormal heart rhythms. Chronic accumulation of iron can lead to serious complications, including liver cirrhosis and a heightened risk of liver cancer.
Early detection through blood tests, particularly for individuals with a family history of the disease, is important because symptoms often appear only after severe organ damage has occurred. Treatment typically involves therapeutic phlebotomy, or blood removal, to reduce iron levels and prevent further damage. In some cases, additional treatments may be necessary. Although the disease is more prevalent in men, both genders are genetically susceptible, with women generally being protected by the menstrual cycle, which helps eliminate excess iron. Understanding and managing hemochromatosis is crucial for minimizing its long-term health impacts.
Hemochromatosis
ALSO KNOWN AS:HFE hereditary hemochromatosis, bronze diabetes
ANATOMY OR SYSTEM AFFECTED: Liver, heart, pancreas, gonads, joints
DEFINITION: A multisystem disease characterized by increased iron absorption and storage
CAUSES: Genetic defect in iron metabolism
SYMPTOMS: Damage to pancreas, skin, testes, and heart, causing diabetes mellitus, bronzelike skin pigmentation, loss of libido and erectile dysfunction, or abnormal heart rhythms or heart failure
DURATION: Chronic
TREATMENTS: Phlebotomy (blood removal) to create mild anemia
Causes and Symptoms
Iron is used by the body for various processes, such as making hemoglobin, the oxygen-carrying in blood. Hemochromatosis is an inherited disorder, usually caused by a mutation of the HFE gene, characterized by the excessive absorption and accumulation of iron from the diet. This excess iron is deposited in various organs. Damage to these organs from years of iron accumulation results in the symptoms of hemochromatosis. The most commonly affected organs are the (causing diabetes), the skin (causing bronzelike skin pigmentation), the joints (causing arthritis), the testes (causing loss of libido and erectile dysfunction), and the heart (causing abnormal heart rhythms or heart failure). The pituitary gland, which regulates sex hormones and metabolism, can also be affected. Although the liver is commonly involved as well, this usually results in mild abnormalities in blood tests of liver enzymes rather than liver failure. However, cirrhosis of the liver can occur, and these patients are at risk for developing liver cancer. Unfortunately, most of the above warning symptoms occur late in the disease, after decades of iron accumulation and organ damage have already taken place.
Treatment and Therapy
Ideally, hemochromatosis should be detected and treated before the onset of symptoms. Screening for patients with a family history of this disease can be performed via blood tests, such as the iron saturation index. More recently, a genetic test for a common that causes hemochromatosis has been developed. Liver is sometimes needed to confirm the diagnosis. Treatment consists of repeated phlebotomy, or the removal of blood. Typically one unit of blood is removed per week until the patient becomes mildly anemic. Hemochromatosis may require the removal of up to 150 units of blood over several years. Subsequently, is repeated every three to four months, and the patient’s iron stores (ferritin) are monitored. If phlebotomy is started before liver develops, then many complications can be avoided. Some patients may benefit from treatment with desferroxamine, a chelating agent that removes iron.
Perspective and Prospects
Hemochromatosis was initially described in 1865 as a triad of glucose in the urine, dark of the skin, and liver cirrhosis. Research into the disease has resulted in tremendous advances in the understanding of iron metabolism. The HFE gene, responsible for most diagnoses of hemochromatosis, has been mapped to chromosome 6. Although the genetic defect is present in both men and women, men develop the disease much more often, since removes excess iron in women. A test to screen for one common mutation in this gene is available, but its usefulness is limited since several other mutations may cause the disease, especially in non-Caucasian ethnic groups.
Bibliography
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