| Abstract [eng] |
Wilson disease is an inherited copper metabolism disorder in which copper accumulates in various organs, most commonly in the liver and brain, and causes a variety of hepatic, neurological and psychiatric symptoms. The disease can manifest as asymptomatic elevation of liver enzymes, acute or chronic hepatitis, liver cirrhosis, tremor, parkinsonism or even generalised dystonia and psychosis. Due to high heterogeneity of phenotypes, the recognition and diagnosis of Wilson disease remain difficult to date. The diagnosis is based on a combination of clinical examination, laboratory, imaging and genetic tests – serum ceruloplasmin, 24-hour urine copper tests, Kayser-Fleischer rings or changes in brain magnetic resonance imaging, liver biopsy or detection of ATP7B gene mutations. The use of standardised criteria, such as the Leipzig score, can help to establish the diagnosis and identify symptoms of Wilson disease, while the Unified Wilson‘s Disease Rating Scale assists in a more accurate evaluation of the neurological manifestations of the disease. Early diagnosis allows to prescribe effective treatment for Wilson disease. The main pharmacotherapeutic drugs used to treat the disease are chelating agents (D-penicillamine and trientine) or zinc salts. Since the treatment is lifelong and must be taken without interruption, a significant number of patients face challenges with treatment adherence. Early recognition of initial symptoms, accurate diagnosis, early initiation of treatment and consistent adherence to therapy can allow patients to maintain quality of life and survival rate similar to the general population. The aim of this study is to provide a literature review of epidemiology, clinical manifestations, diagnostics and treatment options of Wilson disease and to present and compare four Wilson disease patients. The study describes patients who presented with different forms of Wilson disease – hepatic, neurological and neuropsychiatric. Clinical cases illustrate the information provided in the literature about the heterogeneity of the disease phenotype, diagnostic challenges and different responses to treatment. |
