Wilson's disease

Last reviewed: 25 Aug 2022
Last updated: 06 Dec 2018

Summary

Definition

History and exam

Key diagnostic factors

  • history of hepatitis
  • history of behavioural 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
  • gynaecomastia
  • ascites
  • peripheral oedema
  • bruising
  • hepatojugular reflux
  • encephalopathy
  • dysphagia
Other diagnostic factors

Risk factors

  • ATP7B gene mutation
  • non-vegetarian 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
  • full blood count
  • slit-lamp examination
  • blood ceruloplasmin
  • liver biopsy for hepatic presentation
  • liver biopsy for neurological/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

ACUTE

hepatic failure, severe (Nazer score ≥10)

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

ONGOING

neurological disease

asymptomatic/pre-symptomatic or liver disease (no hepatic failure) or following completion of therapy for liver disease

Contributors

Authors

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

MI

Disclosures

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

Sacramento

CA

Disclosures

VM declares that she has no competing interests.

Giacomo C. Sturniolo, MD

Professor of Gastroenterology

Department of Surgical and Gastroenterological Sciences

University of Padua

Padova

Italy

Disclosures

GCS declares that he has no competing interests.

  • Wilson's disease images
  • Differentials

    • Viral hepatitis B
    • Viral hepatitis C
    • Haemochromatosis
    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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