Facts To Know About Wilson Disease

Wilson Disease (or Wilson’s disease, hepatolenticular degeneration) is an inherited metabolic disease of the liver, the body’s largest solid internal organ. The liver plays a critical role as part of the digestive system, helping to remove toxins from the body, among many other functions. Michael Schilsky, MD, professor of medicine (digestive diseases) is an expert in Wilson Disease, and has co-authored practice guidelines on behalf of the American Association for the Study of Liver Diseases and the European Association for the Study of Liver. Schlisky and his liver expert colleagues led Yale to be designated a Center of Excellence for Wilson Disease by the Wilson Disease Association in 2008.

Five facts to know about Wilson Disease:

• Wilson Disease is caused by an excess of copper in the body. In healthy individuals, copper is excreted into the gut through the bile created in the liver. For those with Wilson Disease, the copper builds up in the liver and causes damage to the liver and other organs.
• While Wilson Disease is often thought to be solely a liver disease, research shows that it also may involve many different organs through the body, due to the toxic effects of excess copper. This disease can also negatively affect the brain, kidneys, eyes, heart, blood, and bones. The excess copper in the brain can lead to neurologic or psychiatric diseases usually but not exclusively in adulthood.
• Because Wilson Disease is hereditary, people with a first degree relative with the ailment should be suspected of having the disease. Additionally, people with unexplained liver disease, most often between 3 and 55 years of age and/or patients with acute liver failure should be suspected of having the disease. “Age alone should not exclude the diagnosis,” says Schilsky. “A few years ago, we reported on two octogenarians with initial presentation of the disease. One very severe and one mild.” Read “Wilson disease in septuagenarian siblings: Raising the bar for diagnosis” in Hepatology to learn more.
• Treatment for patients with Wilson Disease will vary due to the phase of disease. For patients who do not exhibit symptoms, the focus should be on prevention of symptoms. If a patient has developed symptoms, the goal is stabilization and eventual reduction of symptoms. For those patients with severe disease or those approaching or with liver failure, “these patients move into rescue mode and a transplant is often what is needed,” said Schilsky. Primary treatments include diet intervention, lifelong pharmacotherapy, and transplantation. Untreated patients with Wilson Disease can lead to severe liver disease, acute liver failure, and death.
• The search for a cure continues. Three medications have been approved by the U.S. Food and Drug Administration to treat the disease: d-Penicillamine, trientine dihydrochloride, and zinc acetate. Scientists have identified ATP7B as the gene responsible for Wilson Disease and have been looking into gene therapy. Phase 1 of a gene therapy trial has been completed, with phase 2 hoping to begin in 2021 in which Schilsky serves as a principal investigator.

While Wilson Disease is a rare disease, Schilsky believes that the “oft-quoted 1 in 30,000 individuals may underestimate the true incidence of disease.” Schilsky and team created a multicenter and multinational registry for patients with Wilson Disease with the support of the Wilson Disease Association to generate research in their hunt for improved diagnostics and therapies and a cure for this disease.

Since forming one of the nation’s first sections of hepatology and then gastroenterology over 50 years ago, Yale’s Section of Digestive Diseases has had an enduring impact on research and clinical care in gastrointestinal and liver disorders. To learn more about their work, visit Digestive Diseases.