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Wilson Disease

Wilson disease is an inherited condition that prevents the body from properly metabolizing copper, causing it to accumulate in the body to dangerous levels. This excess amount of copper causes liver damage and can also attack the nervous system and affect a patient’s neurologic function and mental wellbeing.

Yale New Haven Hospital is a leader in treating Wilson disease and participates in clinical trials for this disorder. We focus on a multidisciplinary approach during diagnosis, management and treatment providing patients with a comprehensive, individualized care plan.

The team has been designated a “Center of Excellence” for diagnosis and treatment by the Wilson Disease Association. This means we are a dedicated center that provides physicians who are well trained in the diagnosis and treatment of Wilson disease, physician training and research regarding Wilson disease, broad services needed by Wilson disease patients and their families, and technical support required by patients, including laboratory metal analysis.

Our team of skilled specialists include hepatologists, psychiatrists, neurologists, movement disorder specialists and dieticians. We also work closely with pediatric liver experts to diagnose and treat children earlier to prevent possible long-term damage.

Symptoms

Since it is an inherited condition, Wilson disease is present at birth. Typically, symptoms arise in childhood or adolescence but may occur at any age. The condition causes accumulation of copper in the liver, brain and other vital organs.

Symptoms may include:

  • Abdominal or leg swelling
  • Fatigue
  • Jaundice
  • Muscle stiffness
  • Tremor or uncontrolled movements
  • Difficulty with speech or swallowing

Diagnosis

A physical exam and laboratory tests can accurately diagnose Wilson disease. A 24-hour urine test or liver biopsy helps to measure copper levels; serum ceruloplasmin levels are typically low. A blood test can also reveal the genetic mutations that cause Wilson disease.

Treatment

Treatment for Wilson disease focuses on removing the excess copper from the body and preventing it from accumulating again through medication and diet. With advanced symptoms or liver failure, a liver transplant may be lifesaving. Following a low-copper diet, being conscious of the amount of copper in drinking water and any medications or supplements can help to prevent further copper accumulation. Treatment for neurologic and psychiatric symptoms may be helpful in addition to addressing treatment of the copper imbalance.