Wilson's Disease

Wilson's Disease is a rare autosomal recessive disorder that results in copper build up in the brain and liver. There are both neuropsychiatric and GI/hepatic signs and symptoms.

Wilson's disease occurs in about 1 in 30,000 people. Symptoms usually begin between the ages of 5 and 35 years. Males and females are equally affected.

  • Neuropsychiatric symptoms include tremors, muscle stiffness, aphasia, personality changes, anxiety, and hallucinations. Psychiatric symptoms due to Wilson's disease are present in about 15% of patients.
  • Hepatic/GI symptoms include vomiting, weakness, ascites, edema, jaundice, and jaundice-associated pruritis.

Wilson's disease is an autosomal recessive disorder. It is due to a mutation in the Wilson disease protein (ATP7B) gene.

  • In young patients presenting with tremor, should always order:[1]
    • Serum ceruloplasmin level (low)
    • Total serum copper (low, since serum ceroplasmin is low)
    • Free serum copper (elevated)
    • 24-hour urinary copper excretion (elevated)
    • Ferritin levels (elevated)
  • CT head will often show signs of neurodegenerative disease
  • Dysarthric speech is the most common neurological sign[2]
  • Jaundice
  • On gait exam, ataxic gait
  • “Wing-beating” tremor
  • Kayser-Fleischer rings are seen on ophthalmoscopic examination by slit lamp