Peste 300 de pacienți cu boala Wilson, o afecțiune genetică rară, cer acces la tratament și diagnostic mai rapid

In 2023, over 300 patients with Wilson's disease were registered in Romania, but the actual number is unknown. Early diagnosis and treatment are crucial to prevent complications. The disease, a rare genetic condition, leads to copper accumulation in the body, affecting various organs. A recent webinar highlighted the challenges in diagnosing rare liver diseases and emphasized the need for collaboration among medical specialists. Patient organizations advocate for faster diagnosis, better access to treatment, and improved data collection on affected individuals. The community is particularly concerned about the rising number of diagnosed cases among children.