Characterization of Wilson’s Disease Patients in Salzburg and Comparison of Treatment with Current EASL Guidelines

Introduction Background and Objective: Wilson disease (WD) is a rare autosomal recessive disorder of copper metabolism caused by ATP7B mutations, leading to toxic copper accumulation. This study characterizes all known adult WD patients in Salzburg and compares findings to current guidelines.

Material and Methods Methods: Clinical, biochemical, genetic, and family history data were collected from archives, cooperating partners, and electronic health records, totaling 25 WD patients.

Results Results: Of 25 patients (15 male, 10 female), the mean age at diagnosis was 20.1 years, with women diagnosed ~4 years later. Initial presentations included hepatic (10/25), neurologic (3/25), psychiatric (2/25), mixed (2/25), and unclassified (3/25). Kayser-Fleischer rings were present in 6/25 patients at diagnosis. The mean Leipzig score was 7. Genetic analysis (available for 18/25) showed 44% carrying the H1069Q mutation. Three patients were identified via family screening. First-line therapy was penicillamine (23/25), with side effects in 6/23; one patient received trientine as first line and 5 patients switching to trientine within 5 years. Treatment was typically initiated within two months from first presentation. Mean MELD-Na was 10.52, FIB-4 2.03, and 24h urinary copper 369 µg/24h at diagnosis. Liver biopsy (12/25) showed a mean hepatic copper content of 12.77 μmol/g. Liver function at diagnosis was generally better in men. Two patients required liver transplants, and one died of chronic liver failure.

Conclusion Conclusion: Our cohort aligns with reported clinical observations, showing highly variable WD manifestations from asymptomatic cases to acute liver failure and death. Psychiatric symptoms were less frequent than expected, possibly due to the small sample size. While literature increasingly highlights gender differences in WD phenotypes, further research is needed. Challenges such as patient adherence and medication availability remain significant concerns.

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Artikel online veröffentlicht:
13. Mai 2025