Wilson-Konovalov Disease: Literature Review and Case Study

Abstract

Wilson-Konovalov disease (hepatolenticular degeneration) is a heavy potentially treatable hereditary disorder of copper metabolism, which is characterized by pathological accumulation of copper. The disease is caused by mutations in ATPase copper transporting beta polypeptide (ATP7B), which encodes the transmembrane ATPase transporting copper, which leads to a violation of copper homeostasis and copper overload in the liver, brain and other organs. The clinical course may vary by type and severity of symptoms, but progressive liver disease is a common feature. Patients may also suffer from neurological disorders and mental symptoms. Hepatolenticular degeneration is diagnosed using diagnostic algorithms that include clinical symptoms and signs, indicators of copper metabolism and ATP7B DNA analysis. Available treatments include chelation therapy and zinc salts, which eliminate copper overload by various mechanisms. In addition, liver transplantation is indicated in some cases. With early diagnosis and treatment, the prognosis is good; however, an important issue is the diagnosis of patients before the appearance of serious symptoms. The paper reviews the latest data on Wilson-Konovalov disease with a detailed description of the etiology, pathogenesis, macroscopic and microscopic pictures of the disease, neurological manifestations, diagnosis, differential diagnosis, new treatment methods, prognosis and complications. A clinical case of Wilson — Konovalov disease in a 28-year-old patient with extrapyramidal manifestations is presented.