- Last edited on February 14, 2021
Wilson's Disease
Primer
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.
Prevalence
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.
Symptoms
- Hepatic/GI symptoms include vomiting, weakness, ascites, edema, jaundice, and jaundice-associated pruritis.
Pathophysiology
Wilson's disease is an autosomal recessive disorder. It is due to a mutation in the Wilson disease protein (ATP7B) gene.
Investigations
-
- 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)
Neuroimaging
- CT head will often show signs of neurodegenerative disease