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Wilson Disease

Main Features

  • Hepatic disease due to excess accumulation of copper
  • Neurologic impairment from copper overload
  • Laboratory findings are low serum ceruloplasmin and high 24 hour urinary copper excretion

Eye Findings

  • Kayser-Fleischer rings
    • copper deposition in Descemet's membrane
    • present in about 50% in those with hepatic disease
  • Sunflower Cataracts- radiating multicolored central opacities, less common

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

Reference