Expert Perspectives on the Unmet Needs in Patients with Wilson Disease

In this in-depth educational session on Wilson Disease, leading experts Dr. Regino Gonzalez-Peralta and Dr. Sammy Saab provide a comprehensive overview of this rare genetic liver disorder, covering everything from copper metabolism and pathogenesis to clinical presentation, diagnosis, and long-term treatment strategies. With perspectives from both pediatric and adult hepatology, the discussion explores why Wilson Disease is often underdiagnosed, how ceruloplasmin levels and 24-hour urine copper tests are interpreted, and the challenges associated with confirming diagnosis using genetic testing and the Leipzig scoring system. The session also highlights real-world patient cases, barriers to treatment adherence, and how modern approaches—such as the use of trientine and zinc, advancements in genetic screening, and telemedicine—are helping improve outcomes for patients. If you're a healthcare professional managing liver disease, neurology, or metabolic disorders, this talk offers valuable clinical insights into managing Wilson Disease across all ages.