Wilson's disease

Question 1

Define Wilsons’ Disease

Answer 1

Autosomal recessive disease of copper accumulation and copper toxicity

Question 2

Aetiology of Wilsons’ Disease

Answer 2

Autosomal recessive disease causing mutation of the gene responsible for the biliary excretion of copper (ATP7B)

Question 3

Symptoms of Wilsons’ Disease

Answer 3

Behavioural abnormalities: Loss of emotional control | depression | delusions | Loss of memory | inability to focus on tasks | impulsivity | Sexual disinhibition 
Tremor 
Dysarthria
Dystonia 
Inco-ordination 

Hx of hepatitis, GI bleeds

Question 4

Signs of Wilson’s Disease on exam

Answer 4

Kayser-Fleishcer rings
Tremor 
Dysarthria 
Dystonia 
Dysphagia
Dysdiadochokinesia 
Micrographia/sloppy 
Normal sensation, power and reflexes 
Abnormal extra-ocular movements

CLD signs: jaundice, asterixis, palmar erythema, Dupuytren’s contracture, bruising, spider naevi, gynaecomastia, ascites

Question 5

Investigations for Wilson’s Disease

Answer 5

Blood Caeruloplasmin: <180 +ve for Wilson’s
Liver biopsy: Hepatic copper elevated

Slit-lamp exam: Kayser-Fleischer rings

LFTs: Raised AST/ALT and bilirubin, reduced albumin (failure), normal in neuro presentations
24h copper: Elevated
FBC: low platelet and WBC count
Blood free copper: elevated

MRI brain: basal ganglia involvement (increased density, face of giant panda sign)

DNA testing for ATP7B