A clinical case of Wilson — Konovalov disease in the practice of gastroenterologist

Abstract

Wilson — Konovalov disease (in the English literature known as Wilson’s disease) is a rare inherited disease with autosomal recessive type of inheritance, which is based on a genetic defect in copper metabolism. Since copper is a part of almost all foods and plays a role of coenzyme in many processes in the body, this element cannot be excluded from the diet. For individuals with absence of excretion of copper ions from the cell, a violation of the fatty acid structure of the cell membrane is inevitable. As a result, its integrity is lost, which leads to degeneration of organs and tissues. Symptoms may include psychiatric (depression, apathy) and neurological disorders (gait disturbance, tremor, irritability), idiopathic hepatitis and cirrhosis, hemolytic anemia, disorders of the cardiovascular and musculoskeletal systems. The insidiousness of this disease is that copper can accumulate for years and not cause severe symptoms until it reaches a certain threshold level, and then in a very short time causes irreversible changes in the body. This threshold level is individual for everyone. It is clinically confirmed that the signs of liver damage are ahead of neurological manifestations by 10 years. Liver damage has been reported in all patients with neurological manifestations. Another important manifestation of the disease is the formation of the Kaiser‑Fleischer ring due to the accumulation of copper in the descemet’s membrane of the cornea. It is found in 95 % of people with neurological manifestations, but is practically not found in children with the disease. An important criterion for diagnosis is psychiatric and behavioural changes, which often precede hepatic manifestations, but are written off at puberty. Such a wide range of disorders is stipulated by the fact that copper is a cofactor of many enzymes in the body. Predictive testing and timely administration of specific treatment will help to avoid such processes. Untreated disease progresses with the development of acute liver failure with the subsequent need for liver transplantation.The authors give an overview of recent data on the etiology, pathogenesis, clinical manifestations, methods of treatment of Wilson — Konovalov disease, and present their own clinical observation of a complex case of Wilson — Konovalov disease in a young girl of 20 years old.