Hemochromatosis

Hemochromatosis is a very common genetic disorder of iron overload.  Another name for primary hemochromatosis is hereditary hemochromatosis due to the fact that it is an inherited disease.

The major defect with hemochromatosis is due to a problem with excessive absorption of iron from the gastrointestinal tract.  This excessive iron that is absorbed is deposited in various organs of the body.  In the particular case of liver disease, the excessive iron builds up in the liver leads to elevated liver chemistries and hepatitis and ultimately cirrhosis and liver cancer.  In addition to the liver, other organs that have excessive iron deposited include the heart, which can lead to heart failure, as well as the pancreas, kidneys, and the nervous system.

Iron is an important nutrient that is required for many bodily functions.  Iron is generally found in red meat as well as a number of iron-fortified foods including bread and cereal.  Approximately 10% of iron is absorbed from the food we eat but in hemochromatosis, this number increases to 30%.  Over years and decades, this excessive iron absorbed leads to the many complications discussed above.

Hereditary hemochromatosis is caused by a defective gene called the HFE gene, which regulates the amount of iron absorbed from the intestinal tract.  The two known mutations of hereditary hemochromatosis are the C282Y and H63D genes.  Of these two, the C282Y gene, is the most important.  Individuals that have hemochromatosis must inherit this gene from both of their parents.  Both genes must be present to express the disease.

Hereditary hemochromatosis is one of the most common genetic disorders in the United States.  It usually affects Caucasians of Northern European descent.  It is estimated that 5 people out of 1,000 of US Caucasians carry two copies of the hemochromatosis gene putting them at risk for the disease.  It is also estimated that 1 out of 8-12 people are carriers of one abnormal gene.  Generally speaking, hemochromatosis is much less common in Hispanics and Latinos, Asian Americans, and African Americans.  It is interesting to note that both men and women can be affected by hereditary hemochromatosis, though men are more likely than women to be diagnosed with hereditary hemochromatosis at a younger age.  Women are slightly protected because of their menstrual cycle and the loss of iron in their blood.

One of the most common symptoms of hemochromatosis is joint pain.  Other symptoms include fatigue, lack of energy, and loss of sexual drive, heart problems, and abdominal pain.  Keep in mind that people with hemochromatosis may have absolutely no symptoms at all.  If the disease is not detected and diagnosed early, excessive iron will accumulate in various tissue and organs and can lead to problems which include;

• Damage to the heart including irregular heart rhythm complicated by congestive heart failure and sudden cardiac death.
• Damage to the pancreas which may lead to diabetes mellitus.
• Liver disease including cirrhosis, liver cancer, and liver failure.
• Arthritis.
• Sexual dysfunction and impotence.
• Premature menopause.
• Darkening of the skin giving it a gray or bronze color.
• Thyroid disease.

Hemochromatosis is diagnosed through a detailed medical history, physical examination, and blood work screening for various causes of elevated liver chemistries and chronic liver disease.  Elevated levels of iron will be seen and the transferrin saturation will also be elevated as a marker of increased iron.  Transferrin saturation higher than 45% would be considered significantly elevated.  Additionally, the total iron binding capacity will be elevated greater than 50% in hereditary hemochromatosis.  A liver biopsy in many cases is required.  This will allow us to directly inspect the liver under a microscope staining for iron.  In addition, the biopsy can be sent off for additional testing to measure the amount of iron in the liver.

The treatment for hemochromatosis compared to many other forms of liver disease is rather simple and straightforward.  The central goal of therapy is to get rid of the excessive iron that has accumulated over years and decades.  Phlebotomy, which is the removal of blood similar to the way blood is donated at blood banks, is the standard therapy.  For most patients, a unit of blood will be taken off once every week or so for several months to a year until the level of iron in the blood is significantly reduced.  Once the level of iron is reduced, the frequency of phlebotomies can be reduced periodically to keep the iron levels at a reasonable level.  Damage to the liver, heart, or joints can be reduced if treatment begins early before a significant irreversible damage occurs.  If cirrhosis develops, the person’s risk for developing liver cancer or hepatocellular carcinoma increases even if the level of iron is reduced to normal levels.  It is generally recommended that patients with hemochromatosis avoid taking iron in the form of vitamins, or vitamin C supplements which increases the intestinal absorption of iron from food.  Of course, alcohol should not be consumed and the intake of raw, undercooked seafood should be avoided because of foodborne illnesses that at times can be life-threatening.

If you have been told you might have hemochromatosis, be sure to bring all of your old records for Dr. Galati and his team to review.