Eisenüberladung

Eisenüberladung, also known as iron overload or hemochromatosis, is a disorder characterized by excessive absorption and accumulation of iron in the body. Normally, the body tightly regulates iron levels through a complex system involving hormones and proteins. In individuals with iron overload, this regulation is impaired, leading to progressive deposition of iron in various organs, most notably the liver, heart, and pancreas.

The most common cause of iron overload is hereditary hemochromatosis, a genetic disorder inherited in an autosomal recessive pattern. In this condition, mutations in genes like HFE lead to increased intestinal iron absorption. Acquired iron overload can result from frequent blood transfusions, as seen in conditions like thalassemia or sickle cell anemia, or from chronic liver disease. Certain rare conditions and excessive iron supplementation can also contribute.

Symptoms of iron overload can vary depending on the severity and the organs affected. Early stages may be asymptomatic. As iron accumulates, individuals may experience fatigue, joint pain, abdominal pain, loss of libido, and heart problems like arrhythmias. Liver damage can progress to cirrhosis, increasing the risk of liver cancer. The pancreas can be affected, leading to diabetes mellitus.

Diagnosis typically involves blood tests to measure iron levels, ferritin (a protein that stores iron), and transferrin saturation (a measure of how much iron is bound to its transport protein). Genetic testing can confirm hereditary hemochromatosis. Imaging studies like MRI may be used to assess iron deposition in organs.

Treatment focuses on removing excess iron from the body. Phlebotomy, the regular withdrawal of blood, is the primary treatment for hereditary hemochromatosis, as red blood cells contain a significant amount of iron. Iron chelation therapy, using medications that bind to iron and facilitate its excretion, is an alternative for patients who cannot tolerate phlebotomy or have severe overload. Dietary modifications, such as avoiding iron-rich foods and alcohol, may also be recommended. Early diagnosis and consistent treatment are crucial to prevent or minimize organ damage and improve prognosis.