Diagnosis of Wilson Disease

The diagnosis of Wilson Disease may often be challenging due to the heterogeneity and unpredictability in the manifestation of the disease. The diagnosis therefore needs to rely on the evaluation of a combination of biochemical markers and clinical symptoms.

Measuring the copper levels in the body is a central part in diagnosing Wilson Disease, but the biochemical picture is complicated. Despite being a disease of excessive copper, total serum copper is typically reduced in Wilson Disease patients compared to other individuals, due to the decreased levels of ceruloplasmin. In contrast to the total copper level, the “free” copper in the blood is normally increased. Experts in Wilson Disease have developed a system for diagnosing Wilson Disease and the system includes an evaluation of biochemical and genetic data and clinical symptoms from individual patients. This method for diagnosis has been included in the European clinical practice guidelines for Wilson Disease.