Role of gender and age in features of Wilson's disease

Lin Cai; Xiaotao Huang; Yan Ye; Dailan Yang; Linshen Xie; Daigang Fu; Lijun Peng; Dingzi Zhou; Juan Liao

doi:10.3389/fneur.2023.1176946

Role of gender and age in features of Wilson's disease

Front Neurol. 2023 Jul 5:14:1176946. doi: 10.3389/fneur.2023.1176946. eCollection 2023.

Authors

Lin Cai^{1

2}, Xiaotao Huang³, Yan Ye^{1

2}, Dailan Yang^{1

2}, Linshen Xie⁴, Daigang Fu⁴, Lijun Peng⁴, Dingzi Zhou⁴, Juan Liao^{1

2}

Affiliations

¹ Department of Gastroenterology, West China School of Public Health and West China Fourth Hospital, Sichuan University, Chengdu, China.
² Non-communicable Diseases Research Center, West China-PUMC C. C. Chen Institute of Health, Sichuan University, Chengdu, China.
³ Department of Gastroenterology, 903 Hospital, Jiangyou, China.
⁴ Department of Occupational Disease and Toxicosis, West China School of Public Health and West China Fourth Hospital, Sichuan University, Chengdu, China.

Abstract

Background: Wilson's disease (WD) is a recessive genetic disorder characterized by copper metabolism dysfunction. It is difficult to obtain an accurate diagnosis due to its variable clinical presentation. This study aimed to describe the clinical characteristics and diagnostic particularities in a series of Chinese WD patients.

Methods: The medical records of 371 patients with WD retrieved from January 2005 to December 2020 were retrospectively reviewed.

Results: The incidence of WD has a male predominance in the adult population. However, the difference in sex distribution is not significant in the pediatric population. Females have an earlier symptom onset than males. The most common initial symptoms were neuropsychiatric manifestations both in the pediatric population (49.7%) and adult population (69.8%), and there was a male predominance (61.8%). Eighty-two percent of patients presented with more than two neurologic symptoms. Fifty-two (14%) patients presented with psychiatric symptoms. The most common WD phenotype was the neuropsychiatric form (48%). The age of onset occurred earlier in patients with the hepatic phenotype than in those with the neuropsychiatric phenotype. Moreover, there was a significant difference in sex distribution regarding phenotype. Females presented with a hepatic phenotype more often than males, and the neuropsychiatric phenotype occurred more frequently in males with an older onset age. Further study showed that the age at onset was a deciding factor for predicting the neuropsychiatric phenotype among the hepatic phenotype. However, sex did not correlate with the phenotype.

Conclusion: Males seem to have a higher disease susceptibility, with symptom onset later than females. Males frequently present with a neuropsychiatric phenotype, while females present with a hepatic phenotype. Age at onset was a deciding factor for predicting the WD phenotype. Further studies focusing on the effect of estrogens on the pathology of WD are suggested.

Keywords: Wilson’s disease; age of onset; clinical characteristics; gender difference; phenotype.