Hemochromatosis

Hereditary hemochromatosis has three stages.

• Stage 1. In this earliest stage, you carry two copies of the inherited genes that can cause hemochromatosis. But lab tests show iron levels in the body are within a healthy range. Many people do not move beyond this stage.
• Stage 2. In this middle stage, your lab tests show signs of extra iron in the body. But there are no signs that the iron overload levels have caused tissue or organ damage.
• Stage 3. In this latest stage, you have signs of either tissue injury or organ damage related to iron overload.

Organ damage

Hemochromatosis is often diagnosed based on blood tests that show high ferritin levels or a gene mutation. Because of this, treatment begins early and can prevent organ damage.

When diagnosed later or without treatment, organ damage can happen. The liver is usually the first organ to be damaged. Too much iron can cause serious scarring of the liver, a condition called cirrhosis. A ferritin level higher than 1,000 micrograms per liter increases the risk of cirrhosis. Cirrhosis also increases the risk of liver cancer.

After liver damage happens, other organs can become damaged. Damage to the pancreas is what causes the changes in skin color, sometimes called bronze diabetes. Later, hemochromatosis may lead to heart damage. In juvenile hemochromatosis, however, heart damage may be one of the first signs.

Treatment is most successful when it begins before organ damage starts. If organ damage has happened, treatment can still help keep damage from getting worse. And sometimes it can help reverse some damage. For example, diabetes may improve or be reversed. And some liver scarring may improve. However, once cirrhosis is present, it often cannot be reversed.