Wilson's disease Flashcards

1
Q

What is Wilson’s disease?

A

Autosomal recessive disorder characterised by reduced biliary excretion of copper + accumulation of copper in the liver + brain, (esp. basal ganglia).

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2
Q

What causes Wilson’s disease?

A

Mutation in a gene on chr 13 that codes for copper transporting ATPase (ATP7B) in hepatocytes

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3
Q

What results from the mutation in Wilson’s disease?

A

Interferes with transport of copper into intracellular compartments for incorporation into caeruloplasmin
Caeruloplasmin is normally secreted into plasma or excreted in bile
Excess copper damages hepatocyte mitochondria, leading to cell death + release of free copper into the plasma
Free copper then gets deposited in tissues + impairs tissue function

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4
Q

Describe the epidemiology of Wilson’s disease

A

Liver disease may present in children

Neurological disease usually presents in young adults

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5
Q

What may Wilson’s disease present with?

A

Hepatitis
Liver failure
Cirrhosis

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6
Q

List 4 hepatic symptoms caused by Wilson’s disease

A

Jaundice
Easy bruising
Variceal bleeding
Encephalopathy

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7
Q

List 9 neurological symptoms caused by Wilson’s disease

A
Dyskinesia 
Rigidity  
Tremor  
Dystonia 
Dysarthria 
Dysphagia  
Drooling  
Dementia  
Ataxia
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8
Q

List 3 psychiatric conditions caused by Wilson’s disease

A

Conduct disorder
Personality change
Psychosis

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9
Q

List 4 signs of liver involvement in Wilson’s disease

A

Hepatosplenomegaly
Jaundice
Ascites/ oedema
Gynaecomastia

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10
Q

Give 2 ocular signs of Wilson’s disease

A
Kayser-Fleischer Rings  
Sunflower cataract (copper accumulation in the lens, seen with a slit lamp)
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11
Q

Describe LFTs in Wilson’s disease

A

High AST
High ALT
High ALP

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12
Q

What other serum tests are performed in Wilson’s disease?

A

LOW serum caeruloplasmin

LOW serum copper

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13
Q

Why must caution be taken when interpreting serum caeruloplasmin?

A

Caeruloplasmin is an acute phase protein so may give false-negatives if there is an underlying infectious/ inflammatory process

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14
Q

What other investigations may be performed in Wilson’s disease?

A

24 hour urinary copper levels: increased
Liver biopsy: increased copper content
Genetic analysis
MRI: degeneration of basal ganglia

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15
Q

Why is genetic analysis complex in Wilson’s disease?

A

Wilson’s is caused by a wide variety of gene mutations so there isn’t a simple genetic test that can be done

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16
Q

What is caeruloplasmin?

A

Copper containing complex

17
Q

What mnemonic can be used to characterise Wilsons disease?

A

Copper is Hella BAD:
Ceruloplasmin decreased, Cirrhosis, Corneal deposits (KF rings), Copper accumulation, Carcinoma (hepatocellular)
Haemolytic anaemia
Basal ganglia degeneration (Parkinsonian Sx)
Asterixis
Dementia, dyskinesia, dysarthria

18
Q

Describe neurological exam findings in Wilsons disease

A

NORMAL SENSATION, MUSCLE STRENGTH + REFLEXES