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

• Litwin, T., Dusek, P., Szafrański, T., Dzieżyc, K., Członkowska, A., & Rybakowski, J. K. (2018). Psychiatric manifestations in Wilson’s disease: possibilities and difficulties for treatment. Therapeutic advances in psychopharmacology, 8(7), 199-211.