Hemochromatosis is a condition that is characterized when your body starts to absorb and retain too much iron from food. This is called iron overload. Your body stores the excess iron in the critical organs, where it gradually builds up and causes damage.
Hemochromatosis most often affects the liver, heart, pancreas, and skin. The condition can also affect the pituitary gland and joints. The excess iron can cause cirrhosis, heart failure, diabetes, erectile dysfunction, and arthritis. If hemochromatosis is not treated, it can even lead to death.
It is more common in men than in women. Iron rarely builds up in women before menopause, because of the monthly loss of blood through menstruation.
Causes of Hemochromatosis
Iron is an important micronutrient that your body can't make on its own. It helps carry oxygen in red blood cells and is needed for proper functioning of the immune system, brain, muscles, and many important enzymes.
Your body absorbs iron from foods when they reach the small intestine. In healthy adults, the body maintains a constant level of iron by absorbing only as much as is needed to replace iron lost through body processes.
Healthy adult men and women lose about 1 mg of iron daily through normal body functions during childbearing years, healthy women lose an average of 2 mg of iron daily during their menstrual period.
Most people eat about 10 mg of iron a day, but the body absorbs only 1 to 2 mg iron a day. Your body stores most of what is not immediately needed in your red blood cells, bone marrow, spleen, and liver, using a protein called ferritin.
When your body has stored enough iron, it stops or decreases the amount absorbed from food in the intestine, so that excess iron does not accumulate.
In hemochromatosis, your body continues to absorb iron, even if your body has already stored a sufficient amount. Your body can’t eliminate the excess iron, so it continues to try to store it. Over time, the iron overload damages organs and causes chronic diseases.
Symptoms of hemochromatosis
Hemochromatosis occurs slowly, and symptoms appear only after years of accumulation. Because hemochromatosis can affect many parts of your body, it can cause different signs and symptoms that vary in severity. Many of the symptoms are also symptoms of other diseases, so making a diagnosis can be difficult.
Most people develop their first symptoms between ages 40 and 60. The condition is usually not diagnosed until after age 40 in men and after menopause in women. Menstruation delays the accumulation of iron in women.
These are symptoms of early- to mid-stage hemochromatosis:
- Chronic fatigue and weakness that has no explanation
- Joint pains, usually in the hands
- Erectile dysfunction
- Weight loss
- Abdominal pain
- Palpitations, or a fluttering sensation in the chest
As more iron builds up in the body, signs and symptoms of mid-stage hemochromatosis occur:
- Arthritis from damage to joints
- An enlarged liver
- Development of diabetes mellitus
- Problems with reproductive organs, such as shrinkage of the testicles, loss of sex drive, infertility, absence of the menstrual cycle, and early menopause
- Heart problems, such as chest pain, shortness of breath, and abnormal heart rhythms
- Abnormal skin color this includes yellowish skin, tan skin not caused by the sun, or reddish palms with no apparent cause
In advanced hemochromatosis, signs and symptoms depend on which organs are failing.
Treatment of hemochromatosis
It is important to reduce the amount of iron in your body to prevent or delay organ damage. The usual treatment is to remove some of your blood, a process called therapeutic phlebotomy.
Blood is removed because it is the primary location for iron storage. How much and how often blood is removed depends on your age, your overall health, and how much excess iron you have.
At the beginning of treatment, your doctor may remove about a pint of blood once or twice a week. When your iron levels have returned to normal, you may need this treatment only every three months. The blood removal and iron-level tests must be done on a periodic basis for the rest of your life.