Features of structural-functional and biochemical changes of the liver in patients with Wilson’s disease

Abstract

Relevance. Despite the capabilities of modern medicine, Wilson’s disease remains a diagnostic challenge for many doctors. Many symptoms are often overlooked, leading to delayed diagnosis and, as a result, early disability and death of patients at a young age. The rarity of this disease and the lack of data on liver damage in this disease make the topic of our study particularly relevant. Purpose – based on a retrospective and prospective analysis of 102 patients with Wilson’s disease, we studied structural changes in the liver and evaluated the level of the most common biochemical markers of its function. Materials and methods. Based on a review of current data on the topic of our study, we analysed the literature, original articles, randomised controlled trials, meta-analyses and book chapters. We used clinical and neurological, biochemical neuroimaging and ultrasound methods of research. Results. Our study, as well as a review of the world literature, showed that all patients with Wilson’s disease, in the neurological phase of the disease, have both structural and functional liver disorders. It was found that pathological processes in the liver are most often asymptomatic and have a minimal degree of enzymatic activity, but with significantly reduced compensatory adaptive capabilities. Conclusions. Despite the fact that Wilson’s disease is a rather rare, genetically determined disease, it is common in the practice of both neurologists and general practitioners, due to liver dysfunction, therefore, early diagnosis and timely pathogenetic treatment lead to regression of symptoms and improvement of the quality and duration of life of patients.