Wilson's disease: best practice

Area of Science:

• Genetics and Molecular Biology
• Hepatology
• Neurology

Background:

• Wilson's disease is an inherited autosomal recessive disorder resulting from mutations in the ATP7B gene.
• Defective copper transport leads to toxic copper accumulation, primarily affecting the liver and subsequently other organs.
• This review addresses the 20-year gap since the last Best Practice publication on Wilson's disease.

Approach:

• Comprehensive literature review of recent advancements.
• Analysis of new diagnostic biomarkers.
• Evaluation of current and emerging therapeutic strategies.

Key Points:

• Novel biomarkers are enhancing early diagnosis and monitoring of Wilson's disease.
• Updated understanding of pathogenesis reveals complex cellular mechanisms of copper toxicity.
• Clinical features require re-evaluation based on new evidence.
• Therapeutic developments offer improved management options.

Conclusions:

• This review provides an updated perspective on Wilson's disease, integrating recent research.
• It highlights the importance of novel biomarkers and refined therapeutic approaches for patient care.
• The findings aim to guide clinicians in managing this complex genetic disorder.