Wilson’s disease: challenges and innovations in diagnosis and treatment

Eglė Kymantaitė¹

¹Vilnius University, Faculty of Medicine Vilnius, Lithuania


Wilson’s disease is an autosomal recessive disease that causes pathological accumulation of copper in the body. The most common groups of symptoms are varying degrees of liver damage, neurological symptoms, and mental disorders. There is no single diagnostic test to confirm the diagnosis, and a comprehensive test is needed to diagnose the disease. The gold standard of treatment is pharmacotherapy of copper-binding chelates. The drugs currently in use have a high number of adverse reactions, and newer and safer treatments are constantly being sought.

Aim: To select and analyze literature sources related to innovations in the diagnosis and treatment of Wilson’s disease.

Methods: A literature review was performed based on the PubMed, ClinicalKey, and UpToDate databases. The publications were selected using the following keywords in the original language: “Wilson’s disease”, “Wilson’s disease diagnosis”, “Wilson’s disease treatment”. Exclusion criteria were: language, duplicate articles. Despite efforts to focus on publications from the last 5 years, the citation period was not limited. 63 articles were reviewed, from which 47 articles were selected for further analysis.

Results: Wilson’s disease is a rare, autosomal recessive inherited disease that disrupts copper metabolism. Complete regression of symptoms is possible with early initiation of treatment, so a thorough diagnosis and selection of the most appropriate treatment is important.

Conclusion: This literature review presents key aspects of challenges and innovation in the diagnosis and treatment of Wilson’s disease.

Keywords: Wilson’s disease, autosomal recessive disease, disorder of copper metabolism.