Ce dificultăți întâmpină pacienții cu boala Wilson în obținerea unui diagnostic corect

In 2023, over 300 patients with Wilson's disease were registered in Romania, but the actual number remains unknown. Wilson's disease is a rare genetic disorder that leads to copper accumulation in the body, causing various health issues. Early diagnosis and treatment are crucial for preventing complications and improving patients' quality of life. Patient representatives emphasize the need for timely diagnosis, access to appropriate treatment, and a clear national framework for care. A recent webinar highlighted the challenges in diagnosing rare liver diseases and the importance of collaboration among medical specialties. Patients call for continuous treatment access and better data collection regarding affected individuals.