Wilson's disease

• Autosomal recessive
• Impairment of biliary cellular copper excretion with accumulation in organs (mostly liver, brain, cornea)
• Liver becomes cirrhotic with ~5% developing liver failure

Under slit-lamp test, Kayser-Fleischer ring is evident around the border of cornea (arrow).

• Hepatic
  • Kayser-Fleischer rings
  • Asymptomatic (steatosis, chronic hepatitis, compensated cirrhosis)
  • Abdominal pain (acute liver failure/hepatitis)
  • Jaundice, hepatomegaly, splenomegaly, ascites
  • Upper GI bleeding; sequela of cirrhosis with varices
• Neurologic symptoms
  • Dysarthria
  • Gait abnormalities
  • Dystonia
  • Tremor
  • Parkinsonism
• Psychiatric symptoms
  • Depression, personality changes, impulsiveness, psychosis

• LFTs to assess ALT/AST
• CBC to assess for anemia (followed by testing for Coombs-negative hemolytic anemia)
• Ocular slit-lamp to assess for Kayser-Flesicher rings
• Outpatient ceruloplasmin concentration, serums copper concentration, 24-hour urinary copper excretion

• Potent chelators: D-penicillamine (first-line), trientine (second-line), oral zinc
• Low-copper diet
• Screening for hepatocellular carcinoma (HCC) recommended but unclear association

1. Lorincz MT. Neurologic Wilson's disease. Ann N Y Acad Sci 2010; 1184:173. 2. Gollan JL, Gollan TJ. Wilson disease in 1998: genetic, diagnostic and therapeutic aspects. J Hepatol 1998; 28 Suppl 1:28. 3. Soltanzadeh A, Soltanzadeh P, Nafissi S, et al. Wilson's disease: a great masquerader. Eur Neurol 2007; 57:80. 4. Stremmel W, Meyerrose KW, Niederau C, et al. Wilson disease: clinical presentation, treatment, and survival. Ann Intern Med 1991; 115:720.