[Wilson's disease : What has been confirmed in diagnostic and therapy?]

Wilson's disease (WD) is a rare autosomal recessive disorder characterized by abnormal copper accumulation. Presenting a broad variety of phenotypes and, thus, being a chameleon within the group of metabolic diseases, the manifold clinical symptoms of WD can include hepatologic, neurologic, and psychiatric manifestations. Early onset presentations in infancy and late-onset manifestations in adults older than 70 years of age have been described. If the typical laboratory blood test values are missing, the diagnosis of WD may be difficult and often involves a combination of different parameters. Novel test methods like the identification of the relative exchangeable copper have not been validated within a sufficient cohort of WD patients as of yet and therefore do not currently play a crucial role within the clinical setting. Consequently any patient with reasonable suspected diagnosis of WD needs to be presented to a (pediatric) gastroenterologist and/or (pediatric) neurologist. Different medical treatments including drugs such as copper chelating agents are commonly used in the clinical setting. Liver transplantation may be the ultima ratio in selected patients. Dietary changes involving a low copper diet play only a minor role. Due to the fact the use of tetrathiomolybdate is still not approved, the treatment of advanced and progressive neurologic symptoms remains a major challenge. In any case, life-long medical supervision and treatment governed by a specialist is absolutely essential. Early diagnosis and early and life-long treatment lead to better prognoses and do not negatively influence the overall life expectancy.