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PURPOSE: Wilson disease (WD) is an autosomal recessively inherited disorder of copper accumulation and toxicity. Its recognition is easy in the presence of typical clinical presentations. Unexplained liver test abnormalities are a diagnostic challenge and require more examinations. The objective of this study is to assess the diagnostic value of ceruloplasmin, 24-hour urine copper excretion and Leipzig scoring system in WD. MATERIAL AND METHODS: Sixty-five patients with WD (22 females and 43 males) and control group of 17 patients with other chronic liver diseases (CLD) were analyzed. The values of the parameters of copper metabolism and Leipzig scoring system were evaluated. RESULTS: Average ceruloplasmin level was under 0,2 g/L and 24-hour urinary copper concentration was increased. D-penicillamine challenge test showed a mean value of 17,4 µmol/24 hours of urinary copper excretion in WD patients versus 5,46 µmol/24 hours in CLD ones. According to the Leipzig scoring diagnostic criteria, 58 WD patients (89,23% of the cases) presented with a score ≥4 (maximal value of 12). Score 3 was found out in seven patients, however, the exclusion of other etiology and the clinical course of the disease confirmed the diagnosis. The control subjects presented with a score ≤3 as it was ≤2 in 76,5% of the cases. CONCLUSION: Our results confirm the diagnostic value for WD of the Leipzig scoring system combined with clinical symptoms, laboratory parameters of copper metabolism, genetic testing and liver biopsy in clinical practice.

Evaluation of some parameters of copper metabolism and leipzig scoring system in the diagnosis of wilson disease