​Pathology - Wilson Disease

​Pathology - Wilson Disease
This is a rare autosomal recessive condition caused by a mutation in the copper-transporting protein (P-type ATPase), resulting in impaired copper conjugation to ceruloplasmin.
The condition typically begins between the ages of 10 and 30.

Pathophysiology: Enhanced copper uptake in the intestines and reduced elimination through bile results in copper buildup in several tissues, particularly in the parenchymal cells of the liver, kidney, brain, and cornea.

The liver can exhibit a range of conditions from acute and chronic hepatitis to micronodular or macronodular cirrhosis, with Mallory bodies being seen on biopsy.
Brain: Degeneration and formation of empty spaces in basal ganglia
Hepatitis, hypersplenism, hemolytic anemia, portal hypertension, psychosis, or dementia: Kayser-Fleischer rings are thin brown rings observed around the corneas during eye examinations. Choreiform movements refer to extrapyramidal motor symptoms that resemble those seen in Parkinson's disease.


Complications involve a higher likelihood of developing hepatocellular carcinoma.
Laboratory results include reduced serum ceruloplasmin, increased copper in urine, amino acids in urine, glucose in urine, and potentially very low alkaline phosphatase levels.

Penicillamine is used for copper chelation in treatment. Liver transplant for severe instances. diet low in copper