Challenges and Recent Advances in Diagnosing Wilson Disease

Area of Science:

• Genetics
• Hepatology
• Neurology

Background:

• Wilson disease (WD) is a rare, autosomal recessive genetic disorder.
• Caused by ATP7B gene mutations, it leads to toxic copper accumulation affecting the liver, brain, and eyes.
• Variable clinical presentations and limitations of traditional diagnostic markers (serum ceruloplasmin, urinary copper, liver biopsy) hinder early and accurate diagnosis.

Purpose of the Study:

• To review recent advances in diagnostic techniques for Wilson disease.
• To highlight the limitations of conventional diagnostic markers.
• To emphasize the need for a comprehensive approach integrating novel methods for improved patient outcomes.

Main Methods:

• Review of novel biomarkers such as relative exchangeable copper (REC) and ATP7B protein quantification.
• Evaluation of advanced imaging modalities including anterior segment optical coherence tomography (AS-OCT), quantitative susceptibility mapping (QSM), and copper-64 positron emission tomography.
• Assessment of next-generation sequencing (NGS) for genetic screening.

Main Results:

• Novel biomarkers show improved accuracy in differentiating WD.
• Advanced imaging techniques offer noninvasive detection of early disease-related changes.
• NGS enhances genetic screening for earlier diagnosis and family cascade screening.

Conclusions:

• Integrating conventional and emerging diagnostic methods is crucial for improving WD detection.
• Increased awareness of traditional test limitations and adoption of novel techniques can enhance diagnostic accuracy.
• Optimized diagnosis through advanced methods leads to better treatment strategies and patient outcomes.