Wilson's Disease

Question 1

def

Answer 1

autosomal recessive disorder characterised by decreased biliary excretion of copper and accumulation in the liver and brain

Question 2

where in the brain does copper accumulation commonly occur

Answer 2

basal ganglia

Question 3

what is wilson’s disease also know as

Answer 3

hepatolenticular degeneration

Question 4

where is the gene responsible for wilsons disease found and what does it do

Answer 4

chromosome 13

codes for copper transporting ATPase (ATP7B) in hepatocytes

Question 5

aetiology

Answer 5

mutations interfere with copper incorporation into caeruloplasmin or excretion in the bile
excess copper damages hepatocyte mitochondria which causes cell death and release of copper into plasma
copper is then deposited in other tissues

Question 6

what is caeruloplasmin

Answer 6

major copper carrying protein in the blood

Question 7

epi

Answer 7

prevalence 1/30,000

carrier frequency 1/100

Question 8

when does liver disease and neurological disease present in wilsons disease

Answer 8

liver disease - children

neurological disease - young adults

Question 9

history

Answer 9

1 liver
-hepatitis or cirrhosis or liver failure
2 neurological
-tremor
-dyskinesia, dystonia, dysarthria, dysphagia
-ataxia
3 psychiatric
-psychosis
-personality change

Question 10

what is dyskinesia

Answer 10

impaired voluntary movement

Question 11

what is dystonia

Answer 11

abnormal muscle tone

Question 12

what is dysarthria

Answer 12

abnormal speech (mechanical problem)

Question 13

what is ataxia

Answer 13

loss of full control of bodily movements

Question 14

examination

Answer 14

1 liver
-signs of hepatitis or cirrhosis or liver failure (jaundice, ascites)
-hepatosplenomegaly
2 neurological
-tremor
-dyskinesia, dystonia, dysarthria, dysphagia
-ataxia
3 Kayser-Fleischer rings

Question 15

what are Kayser-Fleischer rings

Answer 15

copper accumulation around the eyes (iris)

Question 16

investigations

Answer 16

1 urine
-increased 24h urinary copper excretion
2 bloods
-raised LFTs
-low serum caeruloplasmin + copper
3 genetic analysis to confirm diagnosis
4 liver biopsy
-increased hepatic copper

Question 17

what is a high urine copper excretion

Answer 17

> 100micrograms/24h

normal is 40micrograms

Question 18

what serum levels of copper are typical in wilsons disease

Answer 18

<11micromol/l

Question 19

what serum levels of caeruloplasmin are typical in wilsons disease

Answer 19

<200mg/l

less than 140mg/l is characteristic of wilsons disease

Question 20

what produces falsely low caeruloplasmin serum levels

Answer 20

protein deficiency states (nephrotic syndrome, malasorption)

chronic liver disease can decrease synthesis of caeruloplasmin

Question 21

what produces falsely high caeruloplasmin serum levels

Answer 21

caeruloplasmin is an acute phase reactant so is raised in:
1 infection/inflammation
2 pregnancy