Last reviewed: February 2019
Last updated: December  2018

Summary

Definition

History and exam

Key diagnostic factors

  • history of hepatitis
  • history of behavioural abnormalities
  • tremor
  • dysarthria
  • dystonia
  • incoordination
  • sloppy or small handwriting

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

Risk factors

  • ATP7B gene mutation
  • non-vegetarian diet

Diagnostic investigations

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)
Full details

Treatment algorithm

Contributors

Authors VIEW ALL

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 VIEW ALL

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.

Professor of Gastroenterology

Department of Surgical and Gastroenterological Sciences

University of Padua

Padova

Italy

Disclosures

GCS declares that he has no competing interests.

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