Etiology, Histopathology, Staging and Complication of Wilson Disease

Abstract

Wilsons disease is a disorder that occurs when there are mutations, in the ATP7B gene. This leads to problems with copper transport and metabolism in the body. In this review we explore the causes, effects, symptoms and management of Wilsons disease. We delve into the factors that contribute to the condition and how it affects the livers’ ability to handle copper. A key diagnostic feature is the presence of "sunset glow" hepatocytes indicating a buildup of copper. The disease manifests with symptoms affecting organs such as the liver nervous system, mind, blood, kidneys and eyes. Due to this range of symptoms an accurate diagnosis requires an approach. Prognosis and tailored treatment strategies can be aided by staging using the Leipzig scoring system. We discuss complications associated with Wilsons disease. Highlight its impact on organs underscoring why timely diagnosis is crucial. The management section outlines approaches including medication to remove copper from the body or regulate zinc levels as well as dietary modifications to control copper absorption. Regular monitoring through liver function tests, copper measurements and neurological assessments is essential for managing this condition. Genetic counseling plays a role in helping individuals make decisions about their health when it comes to Wilsons disease. In cases where other treatments have failed or are inadequate, for controlling symptoms or preventing organ damage liver transplantation may be considered as a resort option. Finally, we conclude by highlighting how ongoing research continues to improve our understanding of Wilsons disease and refine methods and treatment strategies.