ORIGINAL ARTICLES EVALUATION OF SOME PARAMETERS OF COPPER METABOLISM AND LEIPZIG SCORING SYSTEM IN THE DIAGNOSIS OF WILSON DISEASE

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 ab-normalities are a diagnostic challenge and require more examinations. The objective of this study is to as-sess 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 a 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 in-creased. D-penicillamine challenge test showed a mean value of 17,4 µmol/24 hours of urinary copper ex-cretion 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