Wilson's Disease

Question 1

Define Wilson’s Disease?

Answer 1

An autosomal recessive disorder characteristed by reduced biliary excretion of copper and accumulation of copper in the liver and brain, especially in the basal ganglia

Question 2

What is Wilson’s Disease also known as?

Answer 2

Hepatolenticular degenration

Question 3

What is the aetiology of Wilson’s Disease?

Answer 3

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

Question 4

What is the epidemiology of Wilson’s Disease?

Answer 4

Liver disease may present in children

Neurological disease usually presents in young adults

Question 5

What are the common liver associations of Wilson’s Disease?

Answer 5

Hepatitis
Liver failure
Cirrhosis

Question 6

What are the hepatic symptoms of Wilson’s Disease?

Answer 6

Jaundice
Easy bruising
Variceal bleeding
Encephalopathy

Question 7

What are the neurological symptoms of Wilson’s Disease?

Answer 7

Dyskinesia 
Rigidity
Tremor 
Dystonia 
Dysarthria 
Dysphagia 
Drooling 
Dementia 
Ataxia

Question 8

What are the Psychiatric symptoms of Wilson’s Disease?

Answer 8

Conduct Disorder
Personality change
Psychosis

Question 9

What are the hepatic signs of Wilson’s Disease on physical examination?

Answer 9

Hepatosplenomegaly
Jaundice
Ascites/oedema
Gynaecomastia

Question 10

What are the signs of Wilson’s Disease in the eyes?

Answer 10

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

Question 11

What bloods would you do for Wilson’s Disease?

Answer 11

LFTs
Low serum caeruloplasmin
Serum copper

Question 12

What do you look for specifically for on LFTs for Wilson’s Disease?

Answer 12

High AST, ALT and ALP

Question 13

Why is Caeruloplasmin sometimes a bad investigation for Wilson’s Disease?

Answer 13

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

Question 14

What happens to 24hr urinary copper levels in Wilson’s Disease?

Answer 14

Increased

Question 15

What happens in a Liver Biopsy for Wilson’s Disease?

Answer 15

Increased copper content

Question 16

What is the relation betwen Wilson’s Disease and genetic analysis?

Answer 16

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