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Challenges and Innovations in Wilson Disease, with Michael Schilsky, MD
Schilsky describes lingering challenges and unmet needs in Wilson disease and highlights recent innovations in monitoring and diagnosis.
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 copper accumulation resulting in hepatic, neurologic, and psychiatric manifestations. With the availability of effective treatment options, early detection and intervention are critical for preventing disease progression, mitigating symptoms, and maintaining quality of life.
In the second part of an interview with HCPLive, Michael Schilsky, MD, a professor of medicine and medical director of adult liver transplant at Yale-New Haven Transplantation Center, discusses the biggest challenges in Wilson disease and recent innovations that have helped to address some of the field’s largest unmet needs.
Schilsky begins by highlighting the need for tools to effectively monitor patients, citing shortcomings in the historical approach of examining urinary copper excretion. He references novel approaches with better sensitivity, also describing advances in diagnostics that have the potential to be implemented universally and catch the disease during infancy.
However, Schilsky notes that detecting Wilson disease so early introduces questions about when to start treatment. He says the current understanding is that it is relatively safe to wait 2 to 3 years while monitoring copper and diet before slowly initiating therapy.
“Whenever you deal with a rare disorder, and Wilson's disease is typically present in about 1 in 30,000 individuals, the key is really recognizing the disease,” Schilsky said. “If we can have newborn screening, we’ll capture a lot and that would be wonderful. If we don't, we have to continue to raise awareness so that we can identify patients at a younger age before they develop more severe symptoms.”
Schilsky goes on to commend his colleagues working in pediatrics for moving the needle and helping identify more patients at a younger age. He additionally recognizes the work being done by patient organizations that are providing advocacy and support for patients and families.
Check out part 1 of the interview here: Considerations for Effectively Managing Wilson Disease, with Michael Schilsky, MD
Editors’ note: Schilsky has relevant disclosures with Vivet Therapeutics, Orphalan, Alexion, Wilson Disease Association, National Institute of Health, DepYmed, and Arbomed.
