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 (K F) rings demonstrate a more significant alteration of copper metabolism than those who do not have K F rings, and (2) whether presymptomatic patients have smaller K F 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 K F 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 K F ring. However, no significant difference was found between any of the baseline copper variables for presymptomatic patients who had K F rings compared to those who did not. K F rings of presymptomatic patients were found to be significantly smaller than K F 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 K F rings, it suggests that the larger K F ring size correlates with Wilson's disease severity.