Hereditary Hemochromatosis

What is it?

This is a genetic disorder that leads to increased absorption of iron from the GI tract. The symptoms of this condition are related to extra iron in the tissues, especially the liver, heart, pancreas, and pituitary gland. Usually, iron is absorbed as needed in the body. Iron can be lost from the body in sweat, shed skin cells, from the GI tract, and with menstruation in women. In this disorder, the body absorbs and stores too much iron, more than what the body needs. The iron builds up in the organs, especially the liver, heart, and pancreas, and can damage them.

Who gets it?

This is an inherited condition. A gene is changed that causes abnormal iron absorption and breakdown of iron in the body. HH is most often seen in Caucasian people; about 5 in every 1,000 white people have this condition. Symptoms typically present in males after 50 years old and even later in females.

There is an uncommon form of this disorder that occurs in childhood and is called juvenile hemochromatosis. It is more severe than the typical hereditary hemochromatosis and appears to be a different gene that is affected.

Why does it happen?

The exact cause is still being studied but as stated, the process that regulates how much iron should be absorbed from the GI tract does not work right. It seems to be linked to a mutated (abnormal) gene that allows too much iron to be absorbed.

What are the symptoms?

Liver disease. With iron being deposited in the liver it can enlarge, liver enzymes will increase, and eventually, there can be scarring of the liver. These changes can be reversible if iron is removed early in the disease.
Darkening of skin color.
Diabetes mellitus. This is present in 50% of patients when presenting due to iron accumulating in the pancreas which can decrease the production of insulin.
Joint pain. This may be due to the higher iron levels causing calcium to collect in the joints.
Reproductive problems. Iron can accumulate in the pituitary gland interfering with the control of sex hormones. This can lead to impotence, loss of sex drive, and even osteoporosis in men. In women there can be the absence of menstrual periods, rarely sex drive is affected or menopause comes early.
Heart enlargement. With iron being deposited in the heart tissue there can be a failure of pumping or the impact on the electrical system.
Weakness.
Fatigue.
Increased risk of infections. When iron builds up in cells of the immune system your ability to fight infection is decreased and some bacteria grow better in an iron-rich environment.
Thyroid disease.

How is it diagnosed?

Suspicion may be raised due to your family history. The disease may be questioned due to findings on blood work checking your iron levels. Imaging studies like a CT or MRI may be obtained to look for iron build-up in your liver or heart. The best test is a liver biopsy.

How is it treated?

Treatment is usually the removal of blood (phlebotomy) weekly or every other week until iron stores are reduced as blood cells contain a lot of iron. It is also possible to take a substance that will bind iron (chelating) but this is typically not necessary because of how easy it is to draw and remove blood.

You should continue to eat a normal balanced diet. Iron-rich foods do not need to be completely avoided but you should not take iron or Vitamin C supplements. You should avoid alcohol because it can further harm the liver and can increase iron absorption. Avoid raw shellfish if iron levels are elevated and limit intake of iron-rich foods such as red meat.

Treatment is very important because the major causes of death in HH are advanced cirrhosis, hepatocellular carcinoma, diabetes mellitus, and cardiomyopathy. If treated appropriately your life span should be normal.