Wilson Disease: Diagnosis, Treatment, and Follow-up

Clin Liver Dis. 2017 Nov;21(4):755-767. doi: 10.1016/j.cld.2017.06.011. Epub 2017 Aug 10.


Consideration of a diagnosis of Wilson disease is still the critical factor in testing for and establishing disease diagnosis. In association with other clinical and biochemical tests, liver biopsy results and molecular genetic testing can also be used to generate a score for diagnosing Wilson disease. Medical therapy is effective for most patients; liver transplant can rescue those with acute liver failure or those with advanced liver disease who fail to respond to or discontinue medical therapy. Treatment monitoring must be done at regular intervals and includes clinical evaluation, liver tests and blood counts, and copper metabolic parameters.

Keywords: Ceruloplasmin; Copper; Liver failure; Wilson disease.

Publication types

  • Review

MeSH terms

  • Aftercare
  • Biopsy
  • Ceruloplasmin / metabolism
  • Chelating Agents / therapeutic use*
  • Copper / metabolism*
  • Copper-Transporting ATPases / genetics
  • Disease Management
  • Hepatolenticular Degeneration / complications
  • Hepatolenticular Degeneration / diagnosis
  • Hepatolenticular Degeneration / genetics
  • Hepatolenticular Degeneration / therapy*
  • Humans
  • Liver / pathology
  • Liver Failure, Acute / etiology
  • Liver Failure, Acute / surgery*
  • Liver Transplantation*
  • Penicillamine / therapeutic use
  • Trientine / therapeutic use


  • Chelating Agents
  • Copper
  • Ceruloplasmin
  • ATP7B protein, human
  • Copper-Transporting ATPases
  • Penicillamine
  • Trientine