Wilson Disease: An Updated Review on the Drug Management and its Neurological Aspects

Abstract

Wilson's disease, stemming from a malfunctioning ATP7B protein, disrupts the body's ability to manage copper effectively. Its clinical impact can range from an inconspicuous condition with no apparent symptoms to severe liver problems, such as acute hepatic failure or long-term liver damage, sometimes accompanied by cirrhosis. Additionally, Wilson's disease can manifest in various neurological and psychiatric symptoms. To prevent overlooking cases of Wilson's disease (WD), especially in patients with subtle symptoms like slight increases in transaminase levels or limited neuropsychiatric issues, it's essential to maintain a vigilant and cautious approach. This proactive approach is crucial to managing and mitigating the impact of the disease on affected families. Recent times have seen the emergence of novel molecular information regarding WD development and metabolic fingerprints of WD abnormalities. Studies on WD patients and animal models have shown that extrahepatic tissues and non-parenchymal liver cells contribute to the liver phenotype and have identified nuclear receptor (NR) dysregulation, epigenetic modifications, and mitochondrial dysfunction as key features of the disease's pathogenesis. This review examines emerging strategies for bettering WD diagnosis and treatment while also outlining current developments in the definition of WD pathophysiology under treatment options for Wilson's disease typically involving the use of chelating agents such as D-penicillamine and trientine. In addition, zinc salts serve as inducers of metallothionein, a protein that helps maintain a healthier copper balance by reducing the levels of free copper in the bloodstream