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Wilson Disease

CHRONIC — Systemic

Symptoms

  • ocular: typically asymptomatic; vision is rarely affected
  • hepatic: jaundice, abdominal swelling (ascites), or unexplained liver failure
  • neurologic: "wing-beating" tremors, difficulty speaking (dysarthria), or clumsy gait
  • psychiatric: sudden personality changes, depression, or declining school/work performance

Clinical Findings

Ocular pathognomonics

  • kayser–fleischer (kf) ring: a golden-brown or green copper deposit in the peripheral cornea (Descemet’s membrane)
  • sunflower cataract: copper deposits under the lens capsule in a "rosette" or "petal" pattern; does not affect vision

Systemic signs

  • cirrhosis: liver scarring from chronic copper toxicity
  • risus sardonicus: a fixed, vacuous smile caused by facial muscle spasms
  • face of the giant panda: a classic "sign" seen on brain MRI (midbrain changes)

Etiology

Pathophysiology

  • genetic: autosomal recessive mutation in the ATP7B gene (Chromosome 13)
  • mechanism: the liver cannot excrete copper into bile; "free" copper spills into the blood and settles in the brain, eyes, and kidneys
  • demographics: typically presents between ages 5 and 40

Red Flags

  • kf ring + neuropsychiatric symptoms: essentially diagnostic for Wilson disease; requires immediate systemic workup
  • acute liver failure + hemolytic anemia: a near-certain sign of Wilson disease in young patients
  • hidden rings: early KF rings start under the upper eyelid—if you suspect Wilson, you MUST perform gonioscopy to see the top of the cornea

Investigations

Ocular exam

  • slit-lamp exam: to find the KF ring or sunflower cataract
  • gonioscopy: essential for spotting early copper deposition hiding under the lids

Systemic labs (Leipzig criteria)

  • serum ceruloplasmin: typically very low (<20 mg/dL)
  • 24-hour urinary copper: significantly elevated
  • liver biopsy: the "gold standard" to measure copper concentration in tissue

Treatment

Systemic chelation

  • penicillamine or trientine: drugs that "grab" copper and help the body pee it out
  • zinc salts: blocks the intestines from absorbing copper in the first place

Advanced

  • liver transplant: curative, as the new liver will have the correct machinery to process copper

Clinical Pearl

A golden-brown ring around the cornea in a young patient with liver or neurologic disease is the Kayser-Fleischer ring — slit-lamp gonioscopy confirms, and serum ceruloplasmin is the diagnostic test.

Differential Diagnosis

  • • arcus senilis (white/gray lipid ring; common in elderly, but requires a lipid check in the young)
  • • primary biliary cholangitis (can cause "pseudo-KF rings" due to chronic bile backup)
  • • chalcosis (copper in the eye from a foreign body like a brass shard)

Related Systemic Conditions