Department of Rheumatology, The Affiliated Hospital of Qingdao University, Qingdao, 260071, China.
BMC Gastroenterol. 2021 May 21;21(1):229. doi: 10.1186/s12876-021-01814-5.
Wilson's disease (WD) is a rare autosomal recessive disease associated with defective biliary excretion of copper. The simultaneous occurrence of WD and systemic lupus erythematosus (SLE) has seldom been reported. Therefore, this study aimed to report the co-occurrence of SLE and WD with hepatic involvement in a patient so as to improve the understanding of the coexistence of these two conditions.
A 35-year-old woman with SLE was found to have liver fibrosis during a routinely abdominal ultrasound examination. Her laboratory evaluation showed low serum ceruloplasmin and high 24 h urine copper levels. The slit-lamp examination revealed the presence of Kayseri-Fleischer ring in her cornea. Liver biopsy demonstrated the enlargement of the portal area with hyperplasia of the fibrous tissue, infiltration of lymphoid plasma cells, swelling of hepatocytes, and steatosis, demonstrating liver fibrosis. Ensuing genetic testing confirmed the diagnosis of WD.
Clinicians should bear in mind that unexplained liver fibrosis in patients with SLE may be related to WD, so as to avoid a missed or delayed diagnosis.
威尔逊病（WD）是一种罕见的常染色体隐性遗传病，与铜的胆汁排泄缺陷有关。WD 与系统性红斑狼疮（SLE）同时发生的情况很少见报道。因此，本研究旨在报告一例伴有肝受累的 SLE 和 WD 同时发生的病例，以提高对这两种疾病共存的认识。
一名 35 岁女性，患有 SLE，在例行腹部超声检查时发现肝纤维化。实验室评估显示血清铜蓝蛋白水平降低，24 小时尿铜水平升高。裂隙灯检查发现其角膜存在 Kayseri-Fleischer 环。肝脏活检显示门脉区扩大，纤维组织增生，淋巴浆细胞浸润，肝细胞肿胀和脂肪变性，提示肝纤维化。随后的基因检测证实了 WD 的诊断。
临床医生应牢记，SLE 患者不明原因的肝纤维化可能与 WD 有关，以避免漏诊或延误诊断。
