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Everything you need to know about Wilson Disease

Clinical Features in Patients with Wilson Disease


  • Asymptomatic hepatomegaly
  • Isolated splenomegaly
  • Persistently elevated serum aminotransferase activity (AST, ALT)
  • Fatty liver
  • Acute hepatitis
  • Resembling autoimmune hepatitis
  • Cirrhosis: compensated or decompensated
  • Acute liver failure


  • Movement disorders (tremor, involuntary movements)
  • Drooling, dysarthria
  • Rigid dystonia
  • Pseudobulbar palsy
  • Dysautonomia
  • Migraine headaches
  • Insomnia
  • Seizures


  • Depression
  • Neurotic behaviours
  • Personality changes
  • Psychosis

Other Systems

  • Ocular: Kayser-Fleischer rings, sunflower cataracts
  • Cutaneous: lunulae ceruleae
  • Renal abnormalities: aminoaciduria and nephrolithiasis
  • Skeletal abnormalities: premature osteoporosis and arthritis
  • Cardiomyopathy, dysrhythmias
  • Pancreatitis
  • Hypoparathyroidism
  • Menstrual irregularities; infertility, repeated miscarriages
If you need help in understanding what any of these terms are, please go to our page on definitions.
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