Topic
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Evidence
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https://upload.medbullets.com/topic/120114/images/kayser-fleischer_ring.jpg
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
  • Epidemiology
    • usually < 30 years of age
    • rare
  • Pathogenesis
    • impaired biliary excretion of copper
    • excessive copper deposition throughout the body
    • most symptoms related to accumulation in liver and brain
  • Genetics
    • autosomal recessive
    • ATP7B gene (copper transport protein, chromosome 13)
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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