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.
  • Males and females are equally affected.
  • The prevalence is higher in Japan.
  • Symptoms usually begin between the ages of 5 and 35 years (average age of 17).
  • If detected early and treated appropriately, individuals can have normal health and a normal lifespan.
  • In untreated cases, the disease is progressive and disease can occur within 5 to 10 years (from severe brain damage, liver failure).
    • Severe hemolytic anemia can also be an unusual complication of Wilson’s disease.[1]
  • 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 of copper metabolism in chromosome 13. It is due to a mutation in the Wilson disease protein (ATP7B) gene. Copper excretion by liver impaired in Wilson's disease.
  • Sites of copper deposition include the basal ganglia, liver, cornea
  • In young patients presenting with tremor, should always order:[2]
    • 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)
  • Liver biopsy will indicate elevated copper levels
  • CT head will often show signs of neurodegenerative disease
  • MRI head will show increased signal in the basal ganglia and especially e thputamen
  • Dysarthric speech is the most common neurological sign[3]
  • Patients will often appear jaundiced
  • On gait exam, there is typically an ataxic gait
  • A “wing-beating” tremor is commonly present as well
  • Kayser-Fleischer rings are seen on ophthalmoscopic examination by slit lamp, and the patient should be referred to an ophthalmologist for assessment