Wilson's disease: Presymptomatic patients and Kayser-Fleischer rings

Purpose: We evaluated patients with Wilson's disease to determine (1) whether presymptomatic patients who have Kayser-Fleischer (KF) rings demonstrate a more significant alteration of copper metabolism than those who do not have KF rings, and (2) whether presymptomatic patients have smaller KF rings than symptomatic Wilson's disease patients. Methods: Thirty-two patients with presymptomatic Wilson's disease were retrospectively analyzed. Sixteen of these had received no prior anti-copper therapy and underwent testing for baseline copper metabolism (24-hour urine copper, liver copper, and plasma ceruloplasmin). Quantitative measurements of KF rings were made for the group of untreated presymptomatic patients and a control group of symptomatic Wilson's disease patients. Results: We hypothesized that the 24-hour urine copper, in particular, would correlate with the presence of a KF ring. However, no significant difference was found between any of the baseline copper variables for presymptomatic patients who had KF rings compared to those who did not. KF rings of presymptomatic patients were found to be significantly smaller than KF rings of patients with symptomatic Wilson's disease (p < 0.05). Conclusions: While this study does not show any relationship between urinary copper excretion and the presence of KF rings, it suggests that the larger KF ring size correlates with Wilson's disease severity.