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Considerations for Effectively Managing Wilson Disease, with Michael Schilsky, MD
Schilsky provides an overview of Wilson disease and describes optimal management strategies, highlighting the importance of early detection and intervention.
Wilson disease, also known as hepatolenticular degeneration, is a genetic disorder of copper metabolism that leads to the accumulation of copper in the liver and other tissues, including the brain.
With an estimated prevalence of 1 case per 30,000 live births in most populations, Wilson disease is rare but serious, with gradual damage from the accumulation of copper resulting in hepatic, neurologic, and psychiatric manifestations. With effective treatment options available, early detection and intervention are critical for preventing disease progression, mitigating symptoms, and maintaining quality of life.
In an interview with HCPLive, Michael Schilsky, MD, a professor of medicine and medical director of adult liver transplant at Yale-New Haven Transplantation Center, explains the hepatic manifestations of Wilson disease caused by defective copper transport and subsequent excessive copper accumulation in the liver, which, if untreated, can lead to progressive liver damage, cirrhosis, and acute liver failure, as well as neurological deterioration and psychiatric complications.
Schilsky notes that Wilson disease is highly treatable with long-standing established therapies. Specifically, he highlights the role of chelating agents, such as trientine and penicillamine, which accelerate copper excretion, and zinc salts, which reduce intestinal copper absorption.
For patients who are already presenting with symptoms, Schilsky says the goal is to stop these symptoms from progressing and hopefully cause them to regress and improve over time. For those who are diagnosed at an early stage and have not yet developed symptoms, he says with appropriate treatment, these patients may be able to avoid symptoms altogether.
Schilsky emphasizes that the management of Wilson disease extends beyond copper removal, calling attention to the need for ongoing monitoring, dietary modifications, and addressing complications of liver disease such as portal hypertension and hepatocellular carcinoma risk. For patients with neurological symptoms, supportive therapies targeting tremors, dystonia, or psychiatric conditions may be necessary.
While lifelong medical therapy is effective for most patients, Schilsky notes about 5% present with a more severe form of the disease, causing acute liver failure requiring urgent liver transplantation. Ultimately, he stresses that early diagnosis is crucial, as Wilson disease is highly manageable for most patients when detected in its early stages.
Editors’ note: Schilsky has relevant disclosures with Vivet Therapeutics, Orphalan, Alexion, Wilson Disease Association, National Institute of Health, DepYmed, and Arbomed.
