Wilson Wilson-Konovalov disease. Features of the debut, course of the disease, diagnostic difficulties, progression factors

Abstract

Modern genetic studies of the prevalence of Wilson-Konovalov disease show that the disease is much more common than previously thought. Of particular importance for early diagnosis is the knowledge of the first manifestations of the disease. The article discusses the features of the debut and clinical course, diagnostic approaches to various forms of Wilson-Konovalov disease. A survey, retrospective analysis and subsequent two-year follow-up of 24 patients with Wilson-Konovalov disease were carried out. During the observation, two variants of the debut of the hepatic form were identified: abdominal with severe pain in the abdomen, liver enlargement, pronounced cytolysis syndrome and high activity of alkaline phosphatase, and the second, manifested by a picture of chronic hepatitis with a moderate increase in the activity of aminotransferases, alkaline phosphatase and bilirubin levels. A feature of the course of the latent hepatic form was portal hypertension with an enlargement of the spleen to a huge size. With a mixed form of neurological and hepatic Wilson-Konovalov disease, four patients were diagnosed with “unexplained” encephalopathy caused by brain damage caused by Wilson-Konovalov’s disease.