Ta An Phuc D, Zhou Jiahua, Hsu Megan D, Chu Harrison G, Huynh Ashlyn, Chu Gary
College of Medicine, California Northstate University, Elk Grove, USA.
Health Service Administration, American River College, Sacramento, USA.
Cureus. 2025 Aug 14;17(8):e90122. doi: 10.7759/cureus.90122. eCollection 2025 Aug.
Wilson's disease (WD) is a rare genetic disorder that affects copper metabolism, primarily presenting with hepatic and central nervous system symptoms. Early detection can be challenging due to its variable presentation. In this case, we discuss a 44-year-old female with a six-year history of chronic neurogenic pain, migraines, alcohol use disorder, major depressive disorder, and recent unexplained abdominal pain. She presented to the emergency room with ascites, fulminant hepatic failure, and acute kidney injury. Despite her previously stable health, her condition rapidly decompensated over a month with the onset of hepatic failure. Decompensated cirrhosis secondary to non-alcoholic steatohepatitis or alcoholic hepatitis was suspected. Still, a positive ceruloplasmin study and the presence of Kayser-Fleischer rings observed on slit-lamp examination ruled in WD. This case highlights a late-onset presentation of WD. With early diagnosis and treatment, the fatal sequelae of WD can be prevented. Along with this case, the classifications of WD, its common and unique features, and the diagnostic criteria were reviewed.
威尔逊病（WD）是一种罕见的遗传性疾病，会影响铜代谢，主要表现为肝脏和中枢神经系统症状。由于其表现多样，早期检测具有挑战性。在本病例中，我们讨论了一名44岁女性，她有6年慢性神经源性疼痛、偏头痛、酒精使用障碍、重度抑郁症病史，近期出现不明原因腹痛。她因腹水、暴发性肝衰竭和急性肾损伤就诊于急诊室。尽管她之前健康状况稳定，但随着肝衰竭的发生，她的病情在一个月内迅速恶化。怀疑是非酒精性脂肪性肝炎或酒精性肝炎继发的失代偿性肝硬化。然而，血清铜蓝蛋白检查结果阳性以及裂隙灯检查发现凯泽-弗莱舍尔环确诊为WD。本病例突出了WD的迟发性表现。通过早期诊断和治疗，可预防WD的致命后遗症。结合本病例，对WD的分类、其常见和独特特征以及诊断标准进行了综述。
