Wilson’s disease - a current approach to diagnostics and treatment. A literature review

Abstract

Introduction and purpose Wilson’s disease is a rare autosomal recessive genetic disorder of copper metabolism. Its global genetic prevalence is estimated at around 1:30 000. However, in the case of many patients, it takes a long time to make a diagnosis, which delays introducing the right treatment. This review aims to gather current knowledge about clinical manifestations, diagnosis, and treatment of Wilson’s disease. Material and methods This review was based on available data collected in the PubMed database, using the following keywords: „Wilson’s disease”, „Wilson’s disease treatment”, „Wilson’s disease Pathogenesis”, and “Wilson’s disease Diagnosis”. Conclusions The diagnosis of Wilson’s disease is often delayed due to the wide spectrum of clinical manifestations. Screening of family members of people affected with Wilson’s disease can speed up the diagnosis in yet asymptomatic patients. Raising awareness about Wilson’s disease and diagnosing patients before the onset of serious symptoms may bring earlier diagnosis and improvement in the patient’s quality of life.

Keywords

• Wilson's disease
• Wilson's disease treatment
• Wilson's disease pathogenesis
• wilson's disease diagnosis
• copper
• copper metabolism