Wilson Disease

Question 1

What is Wilson’s disease?

Answer 1

Autosomal recessive metabolic disorder in which impaired copper excretion causes copper to accumulate in the body

Question 2

What are the clinical features of Wilson’s disease? (Specific to the liver only)

Answer 2

Liver: different degrees of liver disease possible, including acute liver failure, acute or chronic hepatitis, and cirrhosis
Hepatosplenomegaly
Portal hypertension
Abdominal pain
Jaundice
Ascites
Hepatic encephalopathy

Question 3

Which gene is Wilson’s disease linked to?

Answer 3

ATP7B gene

Question 4

What is the treatment for Wilson’s disease?

Answer 4

Diet low in copper
Medication that reduces copper absorption or removes excessive copper from the body eg chelating drugs such ass penicillamine
Also liver transplant occasionally

Question 5

What will be seen on the lab tests for Wilson’s disease?

Answer 5

Slit lamp examination: Kayser-Fleischer rings (best initial test)

Blood tests [2]
↑ Transaminases
CBC: Coombs-negative hemolytic anemia, thrombocytopenia
↓ Serum ceruloplasmin (normal value > 20 mg/dL)
↑ Free serum copper, but ↓ total serum copper

Urine tests: ↑ Urine copper excretion (over 24 hours)

Liver biopsy: if other tests are inconclusive
Hepatic copper concentration (> 250 μg/g dry weight) [8]
Histology: copper staining