Wilson Disease

Presentation

100

What would you expect to see on a liver biopsy?

Cirrhosis

200

When do these patients typically present?

Before the age of 40. Pathoma says during childhood

300

Pathognomonic eye finding and where in the eye

Kayser-Fleisher rings in cornea

400

What are the important neurologic manifestations? At least 5 out of the 7. 

Behavioral changes, dementia, chorea, dystonia, tremor, dysarthria, parkinsonism

500

Treatment?

chelation with penicillamine or trientine, oral zinc

Pathophysiology

100

What is the mutated gene normally involved in?

Copper transport

200

This heavy metal is not incorporated into which important molecule?

Ceruloplasmin

300

What is the process that leads to tissue damage?

Copper-mediated production of hydroxyl free radicals

400

Where does this heavy metal typically deposit? Be specific

Cornea, Brain (basal ganglia), Liver, and Kidney

500

Labs show:

__ urinary copper

__ serum ceruloplasmin

__ copper on liver biopsy

increased urinary copper

decreased serum ceruloplasmin

increased copper on liver biopsy

Factoids

100

What is the heavy metal responsible for the disease process?

Copper

200

What is the inheritance pattern?

Autosomal recessive

300

What is the mutation responsible for Wilson disease?

ATP7B

400

What are patients at an increased risk of developing?

HCC

500

Which chromosome is the mutated gene on?

Chromosome 13