Wilson’s Disease

What is Wilson's disease?

Wilson's disease is a rare genetic disorder that causes copper to accumulate in the liver, brain and other vital organs. Copper plays a key role in the development of healthy nerves, bones, collagen and melanin. Normally, it is absorbed from your food, and any excess is filtered by your liver and eliminated via bile. In people with Wilson's disease, the copper is not eliminated properly and can reach poisonous levels.

Virginia Mason's Liver Center of Excellence in the Digestive Disease Institute is dedicated to progressive and innovative management of liver disorders, including Wilson's disease.

To schedule an appointment with Virginia Mason's Liver Center specialists, call (206) 223-2319.

Symptoms

Wilson's disease is present at birth, but symptoms do not appear until copper builds up, most typically during the teenage years. Common symptoms vary depending on which part of the body is affected by the disease and can include:

  • Abdominal pain
  • Buildup of fluid in the abdomen or legs
  • Drooling
  • Fatigue or lack of appetite
  • Itchiness
  • Jaundice — Yellowing of the skin or whites of the eyes
  • Problems with speech or swallowing
  • New onset psychiatric illness — neurotic behaviors, personality changes, psychosis
  • Uncontrolled movements or muscle stiffness

Causes

A mutation in the ATP7B gene, which codes for a gene involved in copper transportation, is the cause of Wilson’s disease. This gene must be inherited from both parents to contract this autosomal recessive condition.

Diagnosis

Most people with Wilson’s disease are diagnosed between the ages of five and 40. Diagnosis often involves a combination of tests.

  • Blood and genetic tests: Blood tests can monitor your liver function, check the level of protein that binds to copper in the blood and measure the actual level of copper in your blood. A blood test can also identify the genetic mutation that causes this disease. If you know about genetic mutations in your family, inform your providers so they can screen siblings and begin treatment before symptoms arise.
  • Eye exam: An ophthalmologist may check your eyes for Kayser-Fleischer rings, caused by excess copper in the eyes, or a sunflower cataract, a type of cataract associated with Wilson’s disease.
  • Examination of liver tissue: Removing a small piece of liver tissue through a tiny incision on the abdomen or neck, a procedure called a liver biopsy, can help your provider determine the level of copper in the tissue.
  • Urine tests: Your provider may want to measure the level of copper excreted in your urine during a 24-hour period.

Treatment

Most people with Wilson’s disease are diagnosed between the ages of five and 40. Diagnosis often involves a combination of tests.

Medical Therapy

Treating Wilson’s disease is a lifelong commitment, since copper can build back up if left untreated. Your provider may prescribe medications that increase the removal of copper from the body or prevent the absorption of copper from the diet.

  • Penicillamine binds copper and leads to copper excretion in the urine.
  • Trientine can be used in patients who have a penicillin allergy or are intolerant of penicillamine.
  • Zinc acetate prevents your body from absorbing copper, and is typically used as maintenance therapy after treatment with penicillamine or trientine.

Nutrition and Dietary Intake

  • Eat a low copper diet by avoiding foods with high copper levels, such as chocolate, dried fruit, mushrooms, nuts, sesame seeds and oil, and shellfish.
  • Avoid using cookware with copper and check water levels at home, since some homes have copper pipes.

Liver Transplant

In very advanced cases of Wilson’s disease where liver damage is severe, a liver transplant may be recommended.

To schedule an appointment with Virginia Mason's Liver Center specialists, call (206) 223-2319.