Diet and Nutrition – Wilson Disease

Wilson disease is a rare inherited disorder that prevents your body from getting rid of extra copper. You need a small amount of copper from food to stay healthy. Too much copper is poisonous. Normally, your liver releases extra copper into bile, a digestive fluid. With Wilson disease, the copper builds up in your liver, and it releases the copper directly into your bloodstream. This can cause damage to your brain, kidneys, and eyes.

Wilson disease is present at birth, but symptoms usually start between ages 5 and 35. It first attacks the liver, the central nervous system or both. The most characteristic sign is a rusty brown ring around the cornea of the eye. A physical exam and laboratory tests can diagnose it. Treatment is with drugs to remove the extra copper from your body. You need to take medicine and follow a low-copper diet for the rest of your life. Don't eat shellfish or liver, as these foods may contain high levels of copper. At the beginning of treatment, you'll also need to avoid chocolate, mushrooms, and nuts. Have your drinking water checked for copper content and don't take multivitamins that contain copper.

Introduction

Wilson disease is a rare inherited disorder that prevents the body from properly removing extra copper. Too much copper can poison the body. With Wilson disease, copper builds up in the liver. The extra copper is then released directly into the bloodstream. This can cause damage to vital organs.

This program explains what Wilson disease is and what causes it. It also covers its diagnosis and treatment options. Wilson disease is named after Dr. Samuel Alexander Kinnier Wilson. Dr. Wilson was a neurologist who first described the condition in 1912. A neurologist is a health care provider specializing in disorders of the nervous system.

Wilson disease prevents your body from getting rid of extra copper. You need a small amount of copper from food to stay healthy. But too much copper is poisonous. Wilson disease first affects the liver. The liver keeps you healthy by removing harmful substances like toxins from the blood. Normally, your liver releases extra copper into bile, a digestive fluid.

With Wilson disease, copper builds up in your liver. This causes liver damage. After enough damage, the liver releases the copper directly into your bloodstream. As your blood moves the copper throughout your body, copper builds up in other organs, including your brain, kidneys and eyes. Over time, high copper levels can cause life threatening organ damage. About one in 40,000 people get Wilson disease. It equally affects men and women. Does copper in the body always cause organ damage? Incorrect. The body needs some copper from food to stay healthy. Correct. The body needs some copper from food to stay healthy. But too much copper is poisonous. Wilson disease causes copper to build up in organs.

Symptoms

Symptoms of Wilson disease often appear between ages 5 and 35. But new cases have been reported in people aged 2 to 72 years. Buildup of copper in the liver caused by Wilson disease may cause ongoing liver problems. Rarely, acute liver failure may happen. If this happens, symptoms will appear suddenly.Wilson disease may cause the following symptoms:

• A tendency to bruise easily.
• Extreme tiredness.
• Fluid buildup in the legs or abdomen.
• Jaundice, or yellowing of the skin and whites of the eyes.
• Swelling of the liver or spleen.

Buildup of copper in the central nervous system may result in neurological symptoms, including:

• Behavioral changes.
• Muscle stiffness.
• Problems with speech or swallowing.
• Tremors or uncontrolled movements.

Neurological symptoms are symptoms that affect the nervous system. The nervous system includes the brain, spinal cord and nerves throughout the body. Wilson disease may also cause:

• Arthritis.
• Problems with the blood, including anemia.
• Slower blood clotting.
• Weak bones.

Anemia is when the blood is unable to carry enough oxygen to the rest of the body. Anemia can make you feel tired, cold, dizzy and irritable. You may also be short of breath or have headaches. Arthritis is pain and swelling of the joints. It causes stiffness in the body and trouble moving around.

The most unique symptom of Wilson disease is a rusty-brown ring around the edge of the iris and in the rim of the cornea of both eyes. This symptom is known as Kayser-Fleischer rings. It happens when copper builds up in the eye. The iris is the colored part of the eye surrounding the pupil. The cornea is the transparent outer membrane that covers the eye. Wilson disease can cause serious complications, including:

• Kidney problems.
• Ongoing neurological problems.
• Liver cancer.
• Liver failure.
• Scarring of the liver.

Jen is having trouble swallowing. Her muscles feel stiff. Friends have also told her that she is acting differently. Should Jen contact her health care provider about these symptoms? Correct. Swallowing, stiff muscles and changes in personality may be a sign of a problem. Jen should contact her health care provider. Incorrect. Jen’s symptoms may be a sign of a problem. She should contact her health care provider right away.

Causes

People who get Wilson disease inherit two abnormal copies of the ATP7B gene, one from each parent. This gene plays a role in the transport of copper from the liver to other parts of the body. Wilson disease carriers are people born with only one copy of the abnormal gene. They do not have symptoms of the disease. Most people with Wilson disease have no known family history of the disease. A person's chances of having Wilson disease increase if one or both parents have it.Wilson disease happens when a genetic change leads to a buildup of copper in your body.

Correct. People who get Wilson disease inherit two abnormal copies of the ATP7B gene, one from each parent. This gene plays a role in the transport of copper from the liver to other parts of the body. Incorrect. Wilson disease happens when a genetic mutation leads to a buildup of copper in your body.

Diagnosis

Wilson disease can be difficult to diagnose. It is rare and its symptoms are similar to those of other conditions. Your health care provider will ask about your medical history. He or she will also ask about your family’s medical history. If you have blood relatives with Wilson disease, you are more likely to have the condition. Wilson disease is diagnosed through a physical exam and lab tests. During the exam, a health care provider will look for visible signs of Wilson disease.

A special light called a slit lamp is used to look for Kayser-Fleischer rings in the eyes. Kayser-Fleischer rings are present in almost all people with Wilson disease who show signs of neurological damage. The rings are present in only 50 percent of those with signs of liver damage alone.Other tests and procedures used to diagnose Wilson disease include:

• Blood and urine tests.
• Brain scans, including CT scan and MRI.
• Removing a sample of liver tissue to test for excess copper.
• Genetic testing, which is a type of blood test used to examine DNA.

A CT scan uses a computer linked to an X-ray machine to make pictures of areas inside the body. An MRI uses radio waves and a powerful magnet linked to a computer to make pictures of areas inside the body. DNA is a type of acid that carries genetic information. DNA determines the makeup of all living cells.

Treatment

Wilson disease requires lifelong treatment. There is no cure. The goal of treatment is to reduce and control the amount of copper in the body. Initial treatment often includes:

• The removal of excess copper.
• A reduction of copper intake.
• The treatment of any liver or central nervous system damage.

Certain drugs may be used to release copper from organs into the bloodstream. Most of the copper is then filtered out by the kidneys and excreted in urine. But these drugs may cause neurologic symptoms to become worse. Zinc may be used to block copper absorption from food in the digestive tract. Zinc may be safe to use at full dosage during pregnancy. Your health care provider can help decide what amount is best for you.

Maintenance therapy begins when symptoms improve and tests show that copper has been reduced to a safe level. Maintenance therapy often includes taking zinc and low doses of a medicine that releases copper into the bloodstream. Blood and urine should be monitored by a health care provider to make sure that treatment is keeping copper at a safe level.

It also is important to reduce your dietary copper intake. You should not eat shellfish or liver. These foods contain high levels of copper. Your health care provider may tell you to avoid other foods as well.It is important to have your drinking water checked for copper content. Avoid taking multivitamins that contain copper. Wilson disease requires lifelong treatment. Correct. Because your body has difficulty getting rid of extra copper, you will need lifelong treatment. Incorrect. Wilson disease requires lifelong treatment. There is no cure.

Summary

Wilson disease is a rare inherited disorder that prevents your body from getting rid of extra copper. Too much copper can poison the body. Wilson disease first attacks the liver, the central nervous system or both. Wilson disease may cause the following symptoms:

• A tendency to bruise easily.
• Extreme tiredness.
• Fluid buildup in the legs or abdomen.
• Jaundice, or yellowing of the skin and whites of the eyes.
• Kayser-Fleischer rings.
• Neurologic symptoms.
• Swelling of the liver or spleen.

People who get Wilson disease inherit two abnormal copies of the ATP7B gene, one from each parent. This gene plays a role in the transport of copper from the liver to other parts of the body. Wilson disease is diagnosed through a physical examination and laboratory tests. During the physical examination, a health care provider will look for visible signs of Wilson disease.

Wilson disease requires lifelong treatment to reduce and control the amount of copper in the body. Most people with Wilson disease can enjoy good health when it is detected early and treated effectively.

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