Differences in clinical features and phenotypes of Wilson disease (WD) were observed between the sexes and age of onset of the disease, according to a study published in Frontiers in Neurology

Of the 371 patient records included in the study, females tended to have an earlier disease onset than males (median age 17 years versus 20 years; P =0.05), however, there was not a significant difference in the age of diagnosis between the sexes. Also, patients who first presented with hepatic injury tended to be younger than patients who first had neuropsychiatric symptoms (median age 16 years versus 20 years; P <0.001).

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At the time of presentation, roughly 66% of the patients had the neuropsychiatric phenotype (67.7%) while the hepatic phenotype was present in roughly a quarter of patients (27.7%). The differences between the sex distributions within each phenotype were statistically significant (P =0.032) with females presenting more often with the hepatic phenotype (51.5%) and males presenting more frequently with the neuropsychiatric phenotype (61%).

When females did present with the neuropsychiatric phenotype, they were significantly younger than males (median age 18 years versus 21 years; P =0.003). No significant differences were found between the sexes regarding the presence of Kayser–Fleischer rings, 24-hour urinary copper excretion levels, and serum concentrations of ceruloplasmin.

Univariate and multivariate logistic regression was applied to the data and age of onset was a significant factor for the prediction of disease phenotype with a more advanced age increasing the odds of the neuropsychiatric form. Sex did not correlate with the disease phenotype in the regression analysis, however.

“In summary, the data obtained in a cohort of 371 patients with WD clearly show gender differences in the clinical features of WD, and the age of onset was a deciding factor for disease phenotype prediction,” the authors wrote.

A total of 371 patient medical records between January 2005 and December 2020 were retrospectively analyzed during the study. Slightly more than half of the patients at an age of onset greater than 18 years (54.4%) and the majority of these patients were male (60.4%). A sex difference was not obvious in the pediatric patients (51.5% male). The sex differences between adult and pediatric patients were not significant, however (P =0.085).


Cai L, Huang X, Ye Y, et al. Role of gender and age in features of Wilson’s disease. Front Neurol. Published online July 5, 2023. doi:10.3389/fneur.2023.1176946