Last reviewed: November 2017
Last updated: July  2017

Summary

Definition

History and exam

Key diagnostic factors

  • hx of hepatitis
  • hx of behavioral abnormalities
  • tremor
  • dysarthria
  • dystonia
  • incoordination
  • sloppy or small handwriting

Other diagnostic factors

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

Risk factors

  • ATP7B gene mutation
  • nonvegetarian diet

Diagnostic investigations

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)
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 monograph.

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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