Wilson’s disease

Abstract

Wilson’s disease (WD) is an autosomal recessive inherited disorder of copper metabolism caused by mutations in the ATP7B gene, which is located on chromosome 13q14.3. The global genetic prevalence of WD at birth is approximately 13.9–15.4 per 100,000 population. Although WD is a rare condition associated with treatment efficacy, mortality rates in patients with WD (5–6.1%) are higher than healthy controls. Prevalent features of WD include hepatic, neurologic, and psychiatric syndromes, even though various signs and symptoms of the disease have been depicted to this point. If diagnosed and treated at an early stage, WD patients would likely improve and be often largely asymptomatic for the rest of their lives. Prompt diagnosis and lifelong treatment substantially affect outcome. We aimed to summarize current knowledge about WD epidemiology, genetics, clinical manifestations, diagnostic workup, and current WD management.

Keywords

• wilson’s disease
• copper
• diagnostic algorithms
• treatment