FAMILY MEDICINE® COLUMN
By John C. Wolf, D.O.
Associate Professor of Family Medicine®
Ohio University College of Osteopathic Medicine

TOO MUCH COPPER IN THE BODY CAUSE OF RARE, TREATABLE DISEASE

Question: My daughter-in-law has just been diagnosed with Wilson's disease. Can you tell us the latest information on this disease. How long can she expect to live with treatment of her condition?

Answer: The good news is that with proper treatment, begun in time, your daughter-in-law should not have her life shortened by Wilson's disease. It is, however, a complicated disease, and I need to explain to you in more detail the nature of the disorder.

Wilson's disease is an uncommon, inherited disorder affecting about one out of every million people. A gene on chromosome 13 responsible for making proteins necessary to properly use the element copper is defective in people with this condition. Fortunately, you must inherit a defective gene from both your mother and father to have Wilson's disease. This is what doctors call a "recessive trait." In Wilson's disease, the body's copper levels become too high, which then results in the malfunctioning of several organ systems.

There are small amounts of copper in many of the foods we eat, and this is fortunate since our bodies need a little of this mineral to function properly. Most excess copper is eliminated from your body in bowel movements, with a small amount being removed through urination. Bowel movement elimination is achieved by the liver's ability to increase copper concentrations in bile, which is released into the digestive tract to help digest food. Digestive waste including the copper-containing bile is then eliminated from the body during bowel movements.

In Wilson's disease, the amount of copper eliminated in bile is markedly reduced. This, then, causes the level of copper in the blood and other body tissues to be higher than normal. The body tries to compensate by increasing the amount of copper in the urine, but the kidneys simply can't remove enough to make up for the decreased elimination through the bowels.

In people with Wilson's disease, the body's copper levels usually rise slowly over a period of years. By age 15 most individuals with Wilson's disease start showing signs of liver or central nervous system disorders. Occasionally, however, the symptoms of excess copper may not develop until age 40 or older. The first symptoms often include signs of liver involvement: fatigue, jaundice, liver enlargement, and bleeding disorders. Nervous system damage can result in tremors, difficulty speaking, trouble walking, clumsiness and personality changes. A "tell tale" sign of Wilson's disease is deposits of copper in the eye that form an abnormality called a Kayser-Fleischer ring. This is seen as a crescent of dark copper pigmentation at the edge of the cornea.

Without treatment the damage caused by excess copper levels of Wilson's disease ultimately becomes fatal, usually from liver failure. Fortunately though, this consequence need not occur. Treatment with penicillamine can be quite effective. Penicillamine is a medication that attaches to copper and then carries it from the body in bowel movements. When the medication is started before serious damage has occurred to the liver or nervous system, a near normal life expectancy can be anticipated.

Family Medicine® is a weekly column. To submit questions, write to John C. Wolf, D.O., Ohio University College of Osteopathic Medicine, Grosvenor Hall, Athens, Ohio 45701.