Co-occurrence of Wilson's disease and systemic lupus erythematosus: a case report and literature review

BMC Gastroenterol. 2021 May 21;21(1):229. doi: 10.1186/s12876-021-01814-5.

Abstract

Background: 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.

Case presentation: 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.

Conclusions: 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.

Keywords: Diagnosis; Liver fibrosis; Systemic lupus erythematosus; Wilson’s disease.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adult
  • Ceruloplasmin / metabolism
  • Copper / metabolism
  • Female
  • Hepatolenticular Degeneration* / complications
  • Hepatolenticular Degeneration* / genetics
  • Humans
  • Lupus Erythematosus, Systemic* / complications

Substances

  • Copper
  • Ceruloplasmin