Wilson's Disease Flashcards

1
Q

Define Wilson’s Disease

A

• DEFINITION: an autosomal recessive disorder characterised by Reduced biliary excretion of copper and accumulation of copper in the liver and brain, especially in the basal ganglia.

So it is a defect in the metabolism of copper

Also known as hepatolenticular degeneration.

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2
Q

Explain the aetiology/risk factors for Wilson’s disease

A
  • Mutation in a gene on chromosome 13 that codes for copper transporting ATPase (ATP7B) in hepatocytes
  • This interferes with the transport of copper into the intracellular compartments for incorporation into caeruloplasmin (copper containing complex)
  • Caeruloplasmin is normally secreted into plasma or excreted in bile
  • Excess copper damages the hepatocyte mitochondria, leading to cell death and release of free copper into the plasma

• This free copper then gets deposited in tissues and impairs tissue function

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3
Q

Recognise the presenting symptoms of Wilson’s disease

A

• Liver
○ May present with: hepatitis, liver failure, cirrhosis
○ Symptoms:
• Jaundice
• Easy bruising
• Encephalopathy - brain disease/damage
• Variceal bleeding -Varices are dilated blood vessels in the esophagus or stomach caused by portal hypertension.

• Neurological
○ Dyskinesia - impaired voluntary movement
○ Rigidity
○ Tremor
○ Dystonia
○ Dysarthria
○ Dysphagia
○ Drooling
○ Dementia
○ Ataxia

• Psychiatric
○ Conduct disorder
○ Personality change
○ Psychosis

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4
Q

Recognise the signs of Wilson’s disease on physical examination

A
• Liver
○ Hepatosplenomegaly
○ Jaundice
○ Ascites/oedema
○ Gynaecomastia

• Eyes
○ Kayser-Fleischer Rings
○ Sunflower cataract (copper accumulation in the lens, seen with a slit lamp)

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5
Q

Identify appropriate investigations for Wilson’s disease

A
• Bloods
○ Serum copper
○ LFTs: high AST, ALT, ALP
○ Low serum caeruloplasmin
• NOTE: caeruloplasmin is an acute phase protein so may give false negatives if there is an underlying infectious/inflammatory process
  • 24 hour urinary copper levels - increased in Wilson’s disease
  • Liver biopsy - increased copper content
  • Genetic analysis - 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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