CENTRAL  SOUTH  DAKOTA  MEDICAL NEWS
THE CLINICAL VIEW
 By: Phillip E. Hoffsten, M.D.
14  JUNE  2001

The Problem of Too Much Iron

The problem to be discussed in this column is one of the more common hereditary conditions in our society. This is called hemochromatosis. It was first diagnosed in 1865 and the first patient described had most of the abnormalities attributed to the disease. Specifically, he had a bronzed skin. Over the course of several years, his skin turned from relatively normal­ appearing Caucasian skin into a bronzed almost Oriental-colored skin. In addition, he became diabetic. His liver failed and the function of his testicles failed. Lastly, he developed heart failure and passed away from that problem about four years after first becoming ill.

It was not until the 1920s that hemochromatosis was found to be secondary to an excess of iron in the body. This led to a large number of studies on how iron enters and leaves the body. This led to the surprising finding that the body really has no mechanism to get rid of iron. If we drink more water than we need, our kidneys will rid the body of the excess water as urine. If we eat more salt than we need, the kidneys will rid the body of the salt putting it into the urine. If we have too much potassium, the body will rid itself of the excess potassium by putting that into the urine. The same is true for a host of water-soluble vitamins and other minerals. But iron is unique. If the body accumulates excessive amounts of iron, there is no predictable mechanism to rid the body of the excess iron. Each day a small amount is lost in the bowel as the surface cells are sloughed off but this is not an effective mechanism to get rid of excess iron if a person has too much.

In the course of the extensive genetic studies and the recently completed human genome project, it was discovered that hemochromatosis is a genetic disease that comes from one of two possible abnormalities in the person's genetic DNA. These genetic defects are what are called recessive genes meaning that the body has to have two of the gene abnormalities in order to get the full-blown disease. When the person has two abnormal genes, their intestine for some reason absorbs more iron than is needed and while the absorption of the excess iron is going on, the body has no method to excrete or get rid of the iron that they do not need. Thus their intestine continues to absorb extra iron and it builds up in the body depositing in the skin, the liver, the heart, the testicles and the pancreas causing diabetes. The accumulation of iron does not occur quickly and generally the disease does not become apparent until a person is 40 years of age or older. Once the disease becomes symptomatic, it may be fatal within five years.

Hemochromatosis is relatively rare. I currently help care for two individuals that have this condition. The incidence of the abnormal gene in the general population is generally about 1 in every 100 people. Thus it is a relatively common genetic defect. There is an average of about one person with hemochromatosis in every 200 people in our country.

The disease can be diagnosed before organ damage occurs by doing simple genetic tests available at your local clinic. Once the condition is diagnosed, it is relatively easy to care for in that it simply involves the removal of one unit of blood periodically to keep the person iron deficient. This works remarkably well by being both a cheap and effective way of dealing with the problem. The healthcare providers at your local clinic can help in the management of individuals with hemochromatosis and also can help in achieving the diagnosis. Once the diagnosis is made, treatment is relatively simple and can be done at your local clinic with a brief stay several times a month.

This disease is an example of a "rare" disease. In fact most people who come to medical attention have common diseases such as high blood pressure, diabetes, heart problems, or cancer. Bun, on the average, one in ten clinic visits are for one of the many "rare" diseases such as hemochromatosis. This tests the diagnostic skills of healthcare providers to funnel out those unusual conditions that can hide and be very hard to diagnose. The healthcare providers at your local clinics are aware of this and either make the diagnosis or refer difficult to diagnose cases on to specialty care. But the first and most important step in being diagnosed and treated is to make an appointment with your healthcare provider to review your medical profile. That is how the two cases I help care for were diagnosed.