Hämokromatose

Hämokromatose, also known as iron overload disorder, is a genetic condition that causes the body to absorb and store too much iron from the diet. Over time, this excess iron can build up in organs such as the liver, heart, pancreas, and joints, leading to damage and dysfunction. The most common form is hereditary hemochromatosis, which is typically caused by mutations in the HFE gene.

Symptoms of hemochromatosis can vary widely and may not appear until middle age. They can include fatigue, joint pain, abdominal pain, liver problems such as cirrhosis, heart problems like arrhythmias, diabetes, and skin discoloration. In men, symptoms often manifest earlier than in women, as women lose iron through menstruation.

Diagnosis usually involves blood tests to measure iron levels, transferrin saturation, and ferritin. Genetic testing can confirm the presence of HFE gene mutations. Imaging tests like ultrasound or MRI may be used to assess organ damage.

The primary treatment for hemochromatosis is phlebotomy, which involves regularly drawing blood to remove excess iron. The frequency and duration of phlebotomy depend on the severity of iron overload. Dietary changes, such as avoiding iron-rich foods and vitamin C supplements, may also be recommended. Early diagnosis and consistent treatment are crucial to prevent or minimize organ damage and manage the condition effectively.