Updated: 12/14/2021

Wilson Disease

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  • Snapshot
    • A 26-year-old woman presents with progressive writhing and jerking movements of the extremities, excess drooling, and multiple joint pains. Computed tomography scan was unremarkable, however, a magnetic resonance image showed hypodense basal ganglia bilaterally. Ocular exam was notable for a brown-yellow pigment that appears to be around the iris. Labs were remarkable for elevated aspartate transaminase (AST) and alanine transaminase (ALT).
  • Introduction
    • Clinical definition
      • abnormal copper accumulation in the body
    • Genetics
      • autosomal recessive
      • ATP7B gene (copper transport protein, chromosome 13)
  • Epidemiology
    • Usually < 30 years of age
    • Rare
  • ETIOLOGY
    • Pathogenesis
      • impaired biliary excretion of copper
      • excessive copper deposition throughout the body
      • most symptoms related to accumulation in liver and brain
  • Presentation
    • Symptoms
      • fatigue
      • vomiting
      • jaundice
      • tremor
      • personality change
      • anxiety
      • hallucination
      • infertility
      • joint pain
    • Physical exam
      • hepatomegaly and splenomegaly
      • jaundice
      • asterixis
      • extrapyramidal tremors
      • chorea
      • loss of coordination
      • dementia
      • pathognomonic Kayser-Fleischer rings
  • Studies
    • Diagnostic testing
      • diagnostic approach
        • start with noninvasive tests
        • diagnosis based on collective test results
        • liver biopsy not always indicated
      • studies
        • copper studies
          • ↓ serum ceruloplasmin and ↓ serum copper
            • due to liver disease and decreased ceruloplasmin synthesis
            • 95% of copper carried by ceruloplasmin
        • ocular slit lamp exam
          • evaluate presence of Kayser-Fleischer rings
        • 24-hour urinary copper excretion
          • ↑ excretion
            • due to ↑ free copper
        • liver biopsy
          • ↑ copper concentration
        • molecular testing
          • genetic analysis of ATP7B
        • liver function tests
          • evaluate presence of hepatitis
          • AST:ALT ratio usually > 2
  • Differential
    • Autoimmune hepatitis
      • distinguishing factor
        • autoantibody present
    • Huntington disease
      • distinguishing factors
        • normal copper metabolism
        • normal liver function
  • Treatment
    • Lifestyle management
      • dietary copper restriction
    • First-line
      • d-penicillamine
        • chelating agent to remove excess copper
        • coadminister with pyridoxine
      • oral zinc
        • increases fecal excretion
        • used as maintenance therapy
    • Second-line
      • liver transplant if medical management fails
  • Complications
    • Liver cirrhosis and failure
    • Death

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