Importance of a Liver Biopsy in the Management of Wilson Disease

Intern Med. 2020 Jan 1;59(1):77-81. doi: 10.2169/internalmedicine.3440-19. Epub 2019 Sep 11.

Abstract

A 37-year-old Wilson disease patient treated with D-penicillamine visited our hospital for the evaluation of his liver function. Laboratory data showed a low serum copper level and ceruloplasmin. The ratio of urinary copper to urinary creatinine in a spot urinary analysis after 4 days' cessation of D-penicillamine was under 0.1. We concluded that the copper chelation was excessive and changed D-penicillamine to zinc acetate. However, his liver function test results did not normalize. We performed a liver biopsy and discovered a high copper content. The liver dysfunction was improved after resuming chelating therapy. Accurate measurement of the hepatic copper content via a biopsy is important for the adequate management of this disease.

Keywords: Wilson disease; hepatic copper content; liver biopsy.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Biopsy
  • Ceruloplasmin / metabolism*
  • Chelating Agents / therapeutic use
  • Copper / metabolism*
  • Disease Management
  • Hepatolenticular Degeneration / drug therapy
  • Hepatolenticular Degeneration / metabolism
  • Hepatolenticular Degeneration / pathology*
  • Humans
  • Liver / metabolism
  • Liver / pathology*
  • Liver Function Tests
  • Male
  • Penicillamine / therapeutic use
  • Zinc Acetate / therapeutic use

Substances

  • Chelating Agents
  • Copper
  • Ceruloplasmin
  • Zinc Acetate
  • Penicillamine