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.

With early detection and proper treatment, you can enjoy good health.

Prevention

A person cannot prevent Wilson disease; however, people with a family history of Wilson disease, especially those with an affected sibling or parent, should talk with a health care provider about testing. A health care provider may be able to diagnose Wilson disease before symptoms appear. Early diagnosis and treatment of Wilson disease can reduce or even prevent organ damage.

People with a family history of the disease may also benefit from genetic testing that can identify one or more gene mutations. A health care provider may refer a person with a family history of Wilson disease to a geneticist—a doctor who specializes in genetic diseases.

Risk Factors

People who have Wilson disease that is not treated or diagnosed early can have serious complications, such as

• cirrhosis—scarring of the liver
• kidney damage—as liver function decreases, the kidneys may be damaged
• persistent nervous system problems when nervous system symptoms do not resolve
• liver cancer—hepatocellular carcinoma is a type of liver cancer that can occur in people with cirrhosis
• liver failure—a condition in which the liver stops working properly
• death, if left untreated

Causes

Wilson disease is caused by an inherited autosomal recessive mutation, or change, in the ATP7B gene. In an autosomal recessive disease, the child has to inherit the gene mutation from both parents to have an increased likelihood for the disease. The chance of a child inheriting autosomal recessive mutations from both parents with a gene mutation is 25 percent, or one in four. If only one parent carries the mutated gene, the child will not get the disease, although the child may inherit one copy of the gene mutation. The child is called a “carrier” of the disease and can pass the gene mutation to the next generation. Genetic testing is a procedure that identifies changes in a patient’s genes and can show whether a parent or child is a carrier of a mutated gene. Autosomal recessive diseases are typically not seen in every generation of an affected family.

Symptoms

One or more copper tests are ordered along with ceruloplasmin when someone has signs and symptoms that a health practitioner suspects may be due to Wilson disease, excess copper storage, or copper poisoning. These signs and symptoms may include:

• Anemia
• Nausea, abdominal pain
• Jaundice
• Fatigue
• Behavioral changes
• Tremors
• Difficulty walking and/or swallowing
• Dystonia

Testing may be ordered when a person has signs and symptoms that may be due to a copper deficiency, such as:

• Abnormally low numbers of neutrophils, a type of white blood cell (neutropenia)
• Osteoporosis
• Anemia
• Less commonly, neurologic symptoms and delayed growth in children

Diagnosis

A health care provider may use several tests and exams to diagnose Wilson disease, including the following:

• medical and family history
• physical exam
• blood tests
• urine tests
• liver biopsy
• imaging tests

Health care providers typically see the same symptoms of Wilson disease in other conditions, and the symptoms of Wilson disease do not occur together often, making the disease difficult to diagnose.

MEDICAL AND FAMILY HISTORY

A health care provider may take a medical and family history to help diagnose Wilson disease.

PHYSICAL EXAM

A physical exam may help diagnose Wilson disease. During a physical exam, a health care provider usually examines a patient’s body or uses a stethoscope to listen to sounds related to the abdomen.

A health care provider will use a special light called a slit lamp to look for Kayser-Fleischer rings in the eyes.

BLOOD TESTS

A nurse or technician will draw blood samples at a health care provider’s office or a commercial facility and send the samples to a lab for analysis. A health care provider may

• perform liver enzyme or function tests—blood tests that may indicate liver abnormalities.
• check copper levels in the blood. Since the copper is deposited into the organs and is not circulating in the blood, most people with Wilson disease have a lower-than-normal level of copper in the blood. In cases of acute liver failure caused by Wilson disease, the level of blood copper is often higher than normal.
• check the level of ceruloplasmin—a protein that carries copper in the bloodstream. Most people with Wilson disease have a lower-than-normal ceruloplasmin level.
• conduct genetic testing. A health care provider may recommend genetic testing in cases of a known family history of Wilson disease.

URINE TESTS

24-hour urine collection. A patient will collect urine at home in a special container provided by a health care provider’s office or a commercial facility. A health care provider sends the sample to a lab for analysis. A 24-hour urine collection will show increased copper in the urine in most patients who have symptoms due to Wilson disease.

LIVER BIOPSY

A liver biopsy is a procedure that involves taking a small piece of liver tissue for examination with a microscope for signs of damage or disease. The health care provider may ask the patient to stop taking certain medications temporarily before the liver biopsy. He or she may also ask the patient to fast—eat or drink nothing—for 8 hours before the procedure.

IMAGING TESTS

A health care provider may order imaging tests to evaluate brain abnormalities in patients who have nervous system symptoms often seen with Wilson disease, or in patients diagnosed with Wilson disease. Health care providers do not use brain imaging tests to diagnose Wilson disease, though certain findings may suggest the patient has the disease.

Treatment

A health care provider will treat Wilson disease with a lifelong effort to reduce and control the amount of copper in the body. Treatment may include

• medications
• changes in eating, diet, and nutrition
• a liver transplant

MEDICATIONS

A health care provider will prescribe medications to treat Wilson disease. The medications have different actions that health care providers use during different phases of the treatment.

Chelating agents. Chelating agents are medications that remove extra copper from the body by releasing it from organs into the bloodstream

Zinc. A health care provider will prescribe zinc for patients who do not have symptoms, or after a person has completed successful treatment using a chelating agent and symptoms begin to improve. Zinc, taken by mouth as zinc salts such as zinc acetate (Galzin), blocks the digestive tract’s absorption of copper from food.

Treatment for people with Wilson disease who have no symptoms may include a chelating agent or zinc in order to prevent symptoms from developing and stop or slow disease progression.

People with Wilson disease will take medications for the rest of their lives. Follow-up and adherence to the health care provider’s treatment plan is necessary to manage symptoms and prevent organ damage.

CHANGES IN EATING, DIET, AND NUTRITION

People with Wilson disease should reduce their dietary copper intake by avoiding foods that are high in copper, such as

• shellfish
• liver
• mushrooms
• nuts
• chocolate

People should not eat these foods during the initial treatment and talk with the health care provider to discuss if they are safe to eat in moderation during maintenance treatment.

People with Wilson disease whose tap water runs through copper pipes or comes from a well should check the copper levels in the tap water.

People should talk with a health care provider about diet changes to reduce copper intake.

LIVER TRANSPLANT

A liver transplant may be necessary in people when

• cirrhosis leads to liver failure
• acute liver failure happens suddenly
• treatment is not effective

A liver transplant is an operation to remove a diseased or an injured liver and replace it with a healthy one from another person, called a donor. A successful transplant is a life-saving treatment for people with liver failure.