Journal of Angiotherapy
Angiogenesis, Inflammation & Therapeutics | Online ISSN  2207-872X
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Contents Vol 5 (2)

Advancements in the Diagnosis and Treatment of Wilson's Disease: A Comprehensive Review of Clinical Approaches and Molecular Insights

Raed mohammed alomair 1*, ‏‎‏Tallah Ibrahim Alkiady 1, ‏Abdullah Abdulrahman Alkhamees 1, ‏Hamdan  Ali  Al Alyani 1, Sultan Safah A Alharbi 1, Amira Yousef Ali Aldalili 1, Khalid Obid  Abdullah  Alruki 1, Basim Othman Nasser Almarshed 1, Mohammed Menwer Alruwaili 1, Taleb Ghazi Thaar Aldalbahi 1, Hatim Bunaydir Bader AImutairi 1, Abdullah Hassan Abdullah Aldawsari 1, Mohammed Mesfer Musaed AL khathami 1, Amer Hassan Mohammed Al-Shahri 1, Hassan Duairam Thawab Al-Shahrani 1

+ Author Affiliations

Journal of Angiotherapy 5 (2) 1-11 https://doi.org/10.25163/angiotherapy.5210070

Submitted: 05 October 2021 Revised: 21 December 2021  Published: 22 December 2021 

Abstract

Background: Wilson’s disease (WD) is a genetic disorder caused by impaired copper metabolism, leading to copper accumulation in various organs, including the liver, brain, and corneas. Despite early recognition of its clinical symptoms, the diagnosis and management of WD remain challenging due to its diverse presentation and involvement of multiple organ systems. Recent advancements in molecular genetics, early diagnosis, and management have improved patient outcomes. Methods: A systematic review of recent literature was conducted to evaluate the latest clinical guidelines, diagnostic criteria, and therapeutic approaches for Wilson’s disease. Studies included clinical trials, case reports, and meta-analyses published from 2015 to 2023, focusing on diagnostic biomarkers, treatment regimens, and long-term prognosis. Results: Early detection of WD remains crucial for preventing irreversible organ damage, especially neurological impairments. Molecular testing, including ATP7B mutation analysis, plays a pivotal role in confirming diagnosis. Chelating agents such as penicillamine and zinc therapy continue to be the mainstay of treatment, although emerging therapies, including gene therapy and novel chelators, show promising results. Liver transplantation remains a critical intervention for patients with advanced liver disease or severe neurological manifestations. The importance of personalized medicine, considering individual genetic and environmental factors, is gaining recognition in optimizing treatment plans. Conclusion: While significant progress has been made in understanding and treating Wilson’s disease, challenges remain, particularly in early diagnosis and managing neurological symptoms. Continued research into genetic therapies and more effective treatment regimens is needed to improve long-term outcomes for patients with Wilson’s disease. Early intervention, personalized care, and regular monitoring are essential to prevent irreversible damage and enhance the quality of life for affected individuals.

Keywords: Wilson's disease, Diagnosis, Treatment, Molecular Mechanisms, Clinical Guidelines

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