Wilson disease

Last reviewed: 7 Jun 2022
Last updated: 06 Dec 2018



History and exam

Key diagnostic factors

  • history of hepatitis
  • history of behavioral abnormalities
  • tremor
  • dysarthria
  • dystonia
  • incoordination
  • sloppy or small handwriting
More key diagnostic factors

Other diagnostic factors

  • dysdiadochokinesis
  • abnormal extraocular movements
  • normal sensation, muscular strength, and reflexes
  • history of gastrointestinal bleeding
  • jaundice
  • liver tenderness
  • spider angiomata
  • gynecomastia
  • ascites
  • peripheral edema
  • bruising
  • hepatojugular reflux
  • encephalopathy
  • dysphagia
Other diagnostic factors

Risk factors

  • ATP7B gene mutation
  • nonvegetarian diet
More risk factors

Diagnostic investigations

1st investigations to order

  • Liver function tests
More 1st investigations to order

Investigations to consider

  • 24-hour urine copper
  • complete blood count
  • slit-lamp exam
  • blood ceruloplasmin
  • liver biopsy for hepatic presentation
  • liver biopsy for neurologic/psychiatric presentation
  • MRI brain
  • blood free copper
  • DNA testing for ATP7B mutations
  • DNA haplotype testing (siblings of an affected patient)
More investigations to consider

Treatment algorithm


hepatic failure, severe (Nazer score ≥10)

hepatic failure, mild to moderate (Nazer score 1 to 9)


neurologic disease

asymptomatic/presymptomatic or liver disease (no hepatic failure) or following completion of therapy for liver disease



George J. Brewer, MD

Morton S. and Henrietta K. Sellner Emeritus Professor of Human Genetics

Department of Human Genetics

University of Michigan Medical School

Ann Arbor



GJB is an author of several references cited in this topic.

Peer reviewers

Valentina Medici, MD

Division of Gastroenterology and Hepatology

Department of Internal Medicine

University of California Davis Medical Center




VM declares that she has no competing interests.

Giacomo C. Sturniolo, MD

Professor of Gastroenterology

Department of Surgical and Gastroenterological Sciences

University of Padua




GCS declares that he has no competing interests.

  • Wilson disease images
  • Differentials

    • Viral hepatitis B
    • Viral hepatitis C
    • Hemochromatosis
    More Differentials
  • Guidelines

    • Diagnosis and treatment of Wilson disease: an update
    More Guidelines
  • Patient leaflets

    Hepatitis C: what is it?

    Hepatitis C: what treatments work?

    More Patient leaflets
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