This is an old revision of the document!

Wilson Disease

Main Features

  • Hepatic disease due to excess accumulation of copper
  • Neurologic impairment from copper overload
  • Laboratory findings
    • Low serum ceruloplasmin levels <14 mg/dl
    • 24 hour urine copper excretion >40 μg
  • Treatment involves reducing copper concentrations with penicallamine or Tridentine and liver transplant

Eye Findings

  • Kayser-Fleischer rings
    • copper deposition in Descemet's membrane
    • present in about 50% in those with hepatic disease
    • from <html>https://en.wikipedia.org/wiki/Kayser–Fleischer_ring#/media/File:Kayser-Fleischer_ring.jpg</html>
  • Sunflower Cataracts- radiating multicolored central opacities, less common
  • Possible mild retinal neurodegeneration
    • thinning of the retinal nerve fiber layer
    • delayed VEPs
  • Gaze palsy, especially up gaze

Other Findings

From Current and Emerging Issues in Wilson's Disease, Roberts EA, Schilsky ML, 2023 NEJM

Etiology

  • Autosomal recessive disorder of copper metabolism from mutations in the ATP7B gene leading to impaired copper secretion
  • ATP7B encodes for a copper-transporting ATPase
  • 1:40,000 to 1:50,000

Reference