Advancements in diagnostic approaches for Wilson's disease

Abstract

Wilson's disease (WD) is a genetic disorder that results in excessive copper build-up in tissues, causing significant liver and neurological damage. Early and accurate diagnosis is crucial for effective management and treatment. Traditional diagnostic methods, including serum ceruloplasmin and urinary copper level monitoring, liver biopsy and genetic testing, are limited by sensitivity, specificity, invasiveness, and accessibility. Recent advances in diagnostic technologies offer new hope for more accurate, rapid, and non-invasive detection of WD. In this regard, nanotechnology-driven formulations hold significant promise for both the early diagnosis and treatment of WD. Through the innovative use of advanced nanomaterials, researchers are developing more effective therapeutic options and highly sensitive diagnostic tools, potentially transforming the management and prognosis of this genetic disorder. This review provides a comprehensive analysis of recent advancements in WD diagnostics, focusing on research published since 2016. It explores the development and application of novel biomarkers, advanced imaging modalities, innovative biosensors, and emerging nanotechnology-based approaches. By integrating these cutting-edge methodologies, the review highlights their potential to enhance early and accurate detection of WD, addressing current diagnostic challenges and improving clinical outcomes.