Wilson's Disease Diagnostic Protocol

Fifty patients with Wilson’s disease (29 men, 21 women, age: 33.6 ± 12.4 years, mean ± SD, duration of disease: 11.4 ± 7.1 years) were involved in the study. Diagnosis of Wilson’s disease was based on the Leipzig score [15 (link)] and only data of patients with a Leipzig score ≥ 4 were included. Liver involvement was diagnosed if any of the following were detected: aspartate aminotransferase > 50 U/l, prothrombin time > 19 s, or serum bilirubin > 34 μM/l. The diagnosis of liver cirrhosis was based on hepatosplenomegaly, abdominal ultrasound, Fibroscan and histological findings. Exclusion criteria were as follows: liver involvement of viral (hepatitis B virus surface antigen and anti-HCV positivity) or autoimmune etiology (antinuclear, anti-smooth muscle, anti-mitochondrial antibody positivity), liver cancer, and treatment with hepatotoxic drugs. No liver-transplanted patients were included. Patients were on penicillamine or trientine therapy. The study was approved by the ethics committee of Semmelweis University (Semmelweis University Regional and Institutional Committee of Science and Research Ethics, 62/2019) and complied with the guidelines of the Declaration of Helsinki. All patients gave written informed consent.