Wilson's disease

Question 1

Define

Answer 1

An autosomal recessive condition where excess copper is not excreted due to a defective apoceruloplasmin producing gene????

defective ATP7B gene

Question 2

What is the defective protein and what its normal function? Explain the pathophysiology/why this is a problem

Answer 2

ATP7B; normally transports copper to:

• apoceruloplasmin (where it binds to copper and becomes ceruloplasmin)
• vesicles for excretion into the bile

Therefore copper reacts with hydrogen peroxide and forms free radicals, which both damage cells and get deposited around the body in via the blood.

Question 3

What are the symptoms/presentations of Wilson’s disease and what does this depend on?

Answer 3

Depends on where the copper is deposited:
Liver - acute hepatitis, cirrhosis, liver failure
Eye - Kaiser-Fleicher rings (deposited in Descemet’s membrane - last layer or cornea)
Brain - Parkinsonian symptoms; dementia; bradykinesia, tremor, DYSARTHRIA
Blood - haemolytic anaemia; jaundice

Gynaecomastia
Oedema due to reduced albumin production due to diseased liver

Question 4

Blood signs

Answer 4

Decreased ceruloplasmin

Question 5

Investigations

Answer 5

Urine - 24 hr copper collection (high as it is not going into bile)

Bloods

• low ceruloplasmin
• high LFTs, low albumin

Question 6

Give names of some drugs to treat

Answer 6

Chelating agents:
Penicillamine
Zinc salts

Question 7

Epidemiology

Answer 7

Young people

Question 8

What symptoms present first then later?

Answer 8

First - neurological

Later - hepatic

Question 9

Early onset symptoms

Answer 9

Neurological: 
Difficulty with speech
Incoordination e.g. problems with handwriting and buttonning
Bilateral tremors
Dysphagia
Rigidty
Postural and gait abnormality
Behaviour abnormality 
Impulsiveness
Delusions
Insomnia

Question 10

What are the hepatic symptoms?

Answer 10

Similar to acute hepatitis:
RUQ
NV
Jaundice
Pruritis

Question 11

Rx

Answer 11

FH