Wilson disease

Last reviewed: 22 Feb 2023
Last updated: 05 Oct 2022



History and exam

Key diagnostic factors

  • elevated serum aminotransferases
  • history of hepatitis
  • acute liver failure
  • behavioral abnormalities
  • presence of Kayser-Fleischer rings
  • tremor
  • dysarthria
  • dystonia
  • incoordination
  • sloppy or small handwriting
More key diagnostic factors

Other diagnostic factors

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

Risk factors

  • ATP7B gene mutation
  • family history of Wilson disease
More risk factors

Diagnostic investigations

1st investigations to order

  • LFTs
  • 24-hour urinary copper
  • slit-lamp exam
  • serum ceruloplasmin
More 1st investigations to order

Investigations to consider

  • CBC
  • liver biopsy
  • MRI brain
  • non-ceruloplasmin-bound copper concentration (NCC)
  • DNA testing for ATP7B mutations
More investigations to consider

Emerging tests

  • direct measurement of ATP7B peptide

Treatment algorithm


hepatic failure, severe (Nazer score ≥10 or Kings Wilson Index score ≥11)

hepatic failure, mild to moderate (Nazer score ≤9 or Kings Wilson Index score ≤10)


symptomatic (neurologic disease or hepatic disease without liver failure)




Michael L. Schilsky, MD, FAASLD

Professor of Medicine and Surgery

Divisions of Digestive Diseases and Transplant and Immunology

Yale School of Medicine

New Haven



MS is an author of multiple references in this topic.

Uyen Kim To, MD

Assistant Professor of Medicine

Division of Digestive Diseases

Yale School of Medicine

New Haven



UKT declares that she has no competing interests.


Professor Michael Schilsky and Dr Uyen Kim To would like to gratefully acknowledge Professor George Brewer, a previous contributor to this topic.


GB 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.

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