Hemochromatosis

Hemochromatosis is characterized by excessive absorption of dietary iron resulting in a pathological increase in total body iron stores. The excess iron is stored in the body's tissues and organs, particularly the skin, heart, liver, pancreas, and joints. Hereditary hemochromatosis is mainly caused by a defect in a gene called HFE, which helps regulate the amount of iron absorbed from food.

Hemochromatosis affects more men than women. It is particularly common in Caucasians of western European descent. It is one of the most common genetic diseases in the United States. Hemochromatosis is uncommon and rarely occurs before middle age. One form is believed to be congenital. It can also result from blood transfusions and over consumption of dietary iron, especially among people with a genetic predisposition to accumulate iron.

People with hemochromatosis absorb up to 30 percent of iron. Over time, they absorb and retain between five to 20 times more irons than the body needs. Early symptoms of hemochromatosis are nonspecific and may include fatigue, joint pain, abdominal pain, and loss of sex drive. Later signs and symptoms can include arthritis, liver disease, diabetes, heart abnormalities, and skin discoloration. The appearance and progression of symptoms can be affected by environmental and lifestyle factors such as the amount of iron in the diet, alcohol use, and infections.

Hemochromatosis is classified by type depending on the age of onset and other factors such as genetic cause and mode of inheritance. Hemochromatosis type 1, the most common form of the disorder, and type 4 (ferroportin disease) are adult-onset disorders. The goal of treatment is to remove excess iron from the body and treat any organ damage. Medicines may also help remove the extra iron. Surgical arthroplasty is considered if joint destruction becomes severe despite medical therapy.