Wilson's Disease

Question 1

Define Wilson’s disease

Answer 1

Autosomal recessive condition whereby there is ↓ biliary excretion of copper + ↓incorporation into procaeruloplasmin -> copper accumulation in the liver, brain, cornea and renal tubules

Question 2

What are the causes/risk factors of Wilson’s disease?

Answer 2

Mutations in the ATP7B gene on chromosome 13 -> defects in a copper-transporting ATPase
in hepatocytes -> ↓ transport of copper into hepatocytes for incorporation into
procaeruloplasmin or excretion in bile

Question 3

What are the signs and symptoms of Wilson’s disease?

Answer 3

Hepatic
• Hepatitis
• Chronic liver disease
- Jaundice
- Easy bruising
- Variceal bleeding
- Encephalopathy
• Hepatosplenomegaly
• Ascites/peripheral oedema
• Gynaecomastia
• Spider naevi

Neurological
• Tremor
• Dyskinesia
• Dysarthria (slurred or
hypokinetic speech)
• Dystonia
• Incoordination (difficulty
writing, dressing, eating)

Psychiatric
• Behavioural abnormalities
(depression, delusions,
memory loss)

Ophthalmological
• Kayser-Fleischer rings

Question 4

What investigations are carried out for Wilson’s disease?

Answer 4

• FBC -anaemia, leukopaenia, thrombocyotpaenia and DIC.
• LFTs - raised ALT, AST and ALP.
- Wilson’s disease typically presents with an ALP:BR ratio of <4 and AST:ALT ratio >2.2.
• Coagulation Screen - prolonged INR, PT, APTT • Blood Free copper - low
• Blood Caeruloplasmin - low
• 24-Hour Urine Copper - high, > 100 micrograms
• Slit-Lamp Examination - KF rings
• DNA Test - ATP7B mutation
• Liver Biopsy - increased hepatic copper, hepatitis and cirrhosis.
• MRI Brain - involvement of basal ganglia