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Gastrointestinal > Wilson's disease > Flashcards

Wilson's disease Flashcards

1
Q

Define Wilson’s disease

A

Autosomal recessive disorder characterised by reduced biliary excretion of copper & accumulation of copper in liver & brain, especially the basal ganglia

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2
Q

Aetiology of Wilson’s disease

3

A

Mutation in gene on chromosome 13 that codes for copper transporting ATPase (ATP7B) in hepatocytes
Interferes w/ transport of copper into intracellular compartments for incorporation into caeruloplasmin —> normally secreted into plasma/excreted in bile
Excess copper damages the hepatocyte mitochondria, leading to cell death & release of free copper into plasma —> get deposited in tissues & impairs function

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3
Q

Epidemiology of Wilson’s disease

children + adults

A

Liver disease may present in children

Neurological disease usually presents in young adults

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4
Q

Presenting symptoms of Wilson’s disease

3 groups

A

Liver
Neurological
Psychiatric

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5
Q

Presenting symptoms of Wilson’s disease - liver

3 conditions + 4 symptoms

A

May present with - hepatitis, liver failure, cirrhosis

Jaundice
Easy bruising
Variceal bleeding
Encephalopathy

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6
Q

Presenting symptoms of Wilson’s disease - neurological

9

A 
Dyskinesia 
Rigidity 
Tremor
Dystonia
Dysarthria
Dysphagia
Drooling
Dementia
Ataxia
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7
Q

Presenting symptoms of Wilson’s disease - psychiatric

3

A

Conduct disorder
Personality change
Psychosis

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8
Q

Signs of Wilson’s disease on physical examination

2 groups

A

Liver

Eyes

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9
Q

Signs of Wilson’s disease on physical examination - liver

4

A

Hepatosplenomegaly
Jaundice
Ascites/oedema
Gynaecomastia

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10
Q

Signs of Wilson’s disease on physical examination - eyes

2

A

Kayser-Fleischer rings

Sunflower cataract

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11
Q

Investigations for Wilson’s disease

4

A

Bloods
24hr urinary copper levels
Liver biopsy
Genetic analysis

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12
Q

Investigations for Wilson’s disease - bloods

3

A

LFTs - high AST, ALT, ALP
Low serum caeruloplasmin
Serum copper

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13
Q

Investigations for Wilson’s disease - 24hr urinary copper

A

Increased

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14
Q

Investigations for Wilson’s disease - liver biopsy

A

Increased copper content

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15
Q

Investigations for Wilson’s disease - genetic analysis

A

Caused by wide variety of gene mutations so not a simple test

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Gastrointestinal (52 decks)

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