Today we discussed a really interesting case of Wilson’s disease. We all remember from medical school that Wilson’s disease is a problem with copper excretion:
In patient’s affected by this condition, the body’s normal mechanisms for excreting copper do not function appropriately, which leads to accumulation of free copper (and decreased ceruloplasmin), which then can get deposited in body tissues. The main sites that are affected are the liver, the cornea, and the brain. Neurologic manifestations of Wilson’s disease can include movement disorders, neuropsychiatric symptoms, and dysarthria. Corneal involvement is seen with presence of a Kayser-Fleischer ring. This disease can also be associated with a hemolytic anemia.
Degree of liver involvement can be variable, and in its most severe form can include acute liver failure. We reviewed criteria for acute liver failure:
Of note, patients with Wilson’s disease and the top two criteria can still be considered acute liver failure even if there is underlying cirrhosis; this has important implications for status of transplant listing.
Wilson’s disease is suggested by low ceruloplasmin and elevated free copper in the blood. LFT abnormalities in a pattern of AST:ALT>2 and Alk Phos:T Bili <4 is also highly specific for this diagnosis. In a less acute setting, copper chelators can be used for treatment. In acute liver failure, supportive measures can be helpful, and transplant is the definitive therapy. Plasmapheresis has also been reported in such cases!