Carta Mauro Giovanni, Zimbrean Paula C, Fantini Massimo Claudio, Primavera Diego
Department of Medical Sciences and Public Health, University of Cagliari, 09124 Cagliari, Italy.
Departments of Psychiatry and Surgery (Transplant), Yale School of Medicine, New Haven, CT 06510, USA.
J Clin Med. 2025 Aug 19;14(16):5866. doi: 10.3390/jcm14165866.
Wilson's disease (WD) is a rare autosomal recessive disorder characterized by abnormal copper metabolism and accumulation in the liver and brain. While hepatic and neurological manifestations are well-recognized, psychiatric symptoms remain underdiagnosed and frequently precede other clinical signs, leading to delayed diagnosis and poorer outcomes. This opinion paper aims to explore the emerging understanding of psychiatric features in WD, particularly mood disturbances and their overlap with bipolar spectrum disorders, through a translational lens. Psychiatric manifestations-including irritability, aggression, disinhibition, and mood instability-are observed in up to 100% of symptomatic WD patients. Accumulated copper induces oxidative stress and astrocyte dysfunction, which may disrupt neural circuits involved in emotion regulation. There is increasing evidence of shared pathophysiological mechanisms between WD and bipolar disorder, including redox imbalance and circadian rhythm dysregulation. The timely recognition of psychiatric symptoms is essential. Future research should investigate biomarkers of early psychiatric involvement, evaluate psychotropic medication safety in WD, and implement psychoeducational strategies to improve adherence and quality of life. A translational approach can foster individualized interventions and provide insights into broader mood disorders.
威尔逊病(WD)是一种罕见的常染色体隐性疾病,其特征为铜代谢异常以及铜在肝脏和大脑中蓄积。虽然肝脏和神经方面的表现已广为人知,但精神症状仍未得到充分诊断,且常常先于其他临床体征出现,导致诊断延迟和预后较差。本观点论文旨在通过转化医学的视角,探讨对WD患者精神特征,尤其是情绪障碍及其与双相谱系障碍重叠情况的新认识。在高达100%的有症状WD患者中可观察到精神症状,包括易怒、攻击性、脱抑制和情绪不稳定。蓄积的铜会引发氧化应激和星形胶质细胞功能障碍,这可能会扰乱参与情绪调节的神经回路。越来越多的证据表明,WD和双相情感障碍之间存在共同的病理生理机制,包括氧化还原失衡和昼夜节律失调。及时识别精神症状至关重要。未来的研究应调查早期精神症状的生物标志物,评估WD患者使用精神药物的安全性,并实施心理教育策略以提高依从性和生活质量。转化医学方法可以促进个性化干预,并为更广泛的情绪障碍提供见解。