The Wilson's disease - etiology, symptoms in various organs, diagnosis, treatment, prognosis

Abstract

Introduction: Wilson disease (WD) is a genetic disorder of copper metabolism caused by ATP7B gene mutations, impairing copper excretion and leading to copper accumulation in organs. It affects children and adults, causing liver damage, cirrhosis, neuropsychiatric symptoms, and, if untreated, death. Symptoms, such as Kayser-Fleischer rings, neurological issues, and low serum ceruloplasmin levels, vary widely, complicating early diagnosis. Although rare, WD is one of the few preventable movement disorders, with treatments available to slow disease progression. Purpose: This review aims to enhance understanding and management of WD by summarizing current guidelines and offering practical recommendations for clinical practice. Material and methods: In our article, we have comprehensively discussed WD. Reviewing the latest literature, we have summarized the symptoms, etiology, diagnosis, treatment and prognosis of this disease. Discussion: Wilson disease remains a significant clinical challenge due to its heterogeneous presentation and difficulty in early diagnosis. Despite effective treatments, that can prevent disease progression, many patients experience delayed diagnosis, leading to irreversible organ damage. Advances in genetic testing and biomarkers have improved diagnostic accuracy, enabling earlier detection and better management outcomes. However, nonadherence to lifelong therapy remains a major hurdle, emphasizing the need for ongoing patient education. Emerging therapies and personalized medicine offer promise for improving outcomes and minimizing long-term complications, highlighting the need for continued research and treatment refinement.

Keywords

• Wilson disease
• ATP7B
• ceruloplasmin
• Kayser-Fleischer ring