Wilson Disease: Copper Toxicity That Can Damage Vital Organs

25 Sep 2017

Wilson disease is a rare metabolic inherited disorder in which too much copper accumulates in the liver, brain, and other body organs and tissues. Like other metal metabolism disorders, levels of trace metals in the blood-in this case copper-build up to toxic levels. Due to a ceruloplasmin enzyme deficiency, the body doesn’t eliminate excess copper that you absorb from food.

How Does Copper Affect the Body?

The body needs copper to help it absorb iron and keep your nervous and immune systems healthy. Copper also pays a key role in the production of melanin and collagen and bone development. But while copper deficiency can lead to anemia, osteoporosis, and thyroid problems, too much copper in the body can be toxic and even life-threatening if the condition remains undiagnosed and untreated.

What Are the Symptoms?

Although Wilson disease is present at birth, the symptoms, which generally present between the ages of 6 and 20, vary depending on what organ of the body is affected. Diagnosis is often difficult since the symptoms can mimic those of other liver diseases, including hepatitis. Common symptoms include persistent fatigue, stomach pain, and loss of appetite.

Muscle stiffness and joint pain can also occur along with fluid buildup in the legs. Contact your doctor for an evaluation if you bruise easily, begin to vomit blood, experience tremors, have difficulty swallowing, or show signs of jaundice-yellowing of the skin and whites of the eyes.

How Is It Inherited?

You can develop Wilson disease if you inherit the mutated gene from each of your parents. However, your parents may not have the disease if they are both carriers where each has only one copy of the abnormal gene. If you inherit the gene from only one of your parents, you won’t get the disease, but you can pass it on to your children.

How Do Doctors Test for It?

Other than genetic testing, additional methods of testing for the disease include blood and urine tests to monitor liver function and check for the level of copper in your blood. Your urine may show high levels of copper and uric acid-possible signs of Wilson disease. Blood tests may reveal anemia and low platelet and white blood cell counts, as well as a decreased level of a copper binding protein.

Your doctor may also recommend a liver biopsy or refer you to an eye doctor to check for excess deposits of copper in your eyes. A condition known as Kayser-Fleischer appears as yellowish- or brownish-green rings around the cornea of the eye and is a common sign of Wilson disease.

What Are the Possible Complications?

Wilson disease can lead to serious complications including neurological problems, kidney problems, cirrhosis of the liver, and liver failure. Once the liver becomes badly damaged, it begins to release copper into the bloodstream where it travels to the kidneys, brain, and eyes. The disease can also cause thyroid and adrenal gland dysfunction, migraine headaches, seizures, and psychological problems such as depression and bipolar disorder.

How Is It Treated?

If you have Wilson disease, treatment involves lifelong use of chelating agents which bind to copper. Once the kidneys filter the trace element from your bloodstream, excess copper is excreted from the body in urine. Frequent side effects of chelating agents include depletion of other nutrients which can lead to fatigue, dehydration, and skin irritation.

Along with following a low-copper diet, your doctor may prescribe zinc acetate-a medication that keeps your body from absorbing copper from the food you eat. However, if the disease causes severe liver damage, you may need a liver transplant.

For additional information on the treatment of Wilson disease or other metabolic disorders, contact the medical team at Integrative Brain and Body who can develop a treatment protocol to help you manage the disease.

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