WILSON'S DISEASE: METABOLIC MANIFESTATIONS AND SURGICAL NEED

Abstract

Wilson's disease is a rare genetic condition, also known as hepatolenticular degeneration, which affects copper homeostasis in the human body. It manifests as a dysfunction in copper transport in the liver, leading to excessive accumulation of this metal in tissues, especially in the liver and central nervous system. This copper overload can result in a number of detrimental metabolic manifestations, including neuropsychiatric symptoms, liver disorders, and other systemic symptoms. As the condition progresses, the need for surgical intervention may become an important consideration for patients with Wilson's Disease. Surgery, usually in the form of a liver transplant, is often necessary to prevent serious complications and improve patients' quality of life. Objective: to analyze and synthesize the available evidence on the metabolic manifestations of Wilson's disease and the need for surgical intervention, focusing on the last decades. We aim to explore studies published over the last 10 years to provide a comprehensive overview of the clinical implications of this condition, highlighting the importance of surgery as a therapeutic option. Methodology: this systematic review was conducted following the PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) guidelines. To identify relevant studies, we searched the PubMed, Scielo and Web of Science databases. We used five main descriptors: "Wilson's disease", "metabolic manifestations", "surgical need", "liver transplant" and "surgical treatment". Inclusion criteria: studies published in the last 10 years (2013-2023) in English or Portuguese, studies that address the metabolic manifestations of Wilson's Disease, studies that discuss the need for surgical intervention, including liver transplantation, as part of of the treatment of Wilson's Disease. Exclusion criteria: studies not related to Wilson's Disease, studies that do not address metabolic manifestations or surgical treatment, studies that are not available in full or do not have sufficient information for analysis. Results: 15 studies were selected. Our results revealed a number of relevant topics, including the variety of metabolic manifestations of Wilson Disease, such as neuropsychiatric and hepatic disorders, and the progression of these symptoms over time. Furthermore, we identified studies that highlight the importance of early diagnosis and appropriate treatment, including surgery, to improve patients' quality of life. Conclusion: this systematic literature review emphasizes the complexity of the metabolic manifestations of Wilson's Disease and the need to consider surgical intervention, such as liver transplantation, as part of the therapeutic arsenal for patients with this condition. Early identification and appropriate treatment are essential to prevent serious complications and improve patients' prognosis. Therefore, a multidisciplinary approach and an in-depth understanding of this disease are crucial for the effective management of Wilson's Disease.