Over 300 patients with Wilson’s disease are calling for rapid diagnosis and access to treatment

Wilson disease, a rare genetic disorder that prevents the body from eliminating excess copper, can affect the liver, brain and nervous system. Specialists and patient organizations are highlighting the need for the fastest possible diagnosis, access to treatment and long-term monitoring.

The issues were discussed during the webinar “Cholestasis and Other Rare Liver Diseases: Challenges in Diagnosis and Access to Care,” organized by the National Alliance for Rare Diseases Romania and the Romanian Association of Rare Cancers as part of the Share Experience 2026 series.

Doctors warn that the manifestations of rare liver diseases can be nonspecific, which sometimes delays diagnosis. Collaboration between specialties and referral to experienced centers are essential for selecting the appropriate investigations and care.

Patient representatives maintain that diagnosis is only the first step. They are calling for continuity of treatment, access to specialists and a clear national framework for monitoring. In 2023, 316 people with Wilson disease were listed in the records of the relevant association, but the actual number of patients is unknown. The organization also reports an increase in cases diagnosed in children.