Wilson's disease

Question 1

Define Wilson’s disease

Answer 1

Autosomal recessive disease-mutation of gene causes copper accumulation and toxicity-> affects liver a lot or neuro

Question 2

Aetiology and risk factors of Wilson disease

Answer 2

AR disease-mutation of ATP7B gene-involved in copper exrection in bile -not working
Copper accumulation leads to more free copper-> oxidative damage
Usually stored in liver-> where damages most
basal ganglia and brain that do movement-> most sensitive so also often damaged

Risk factors
mutation present
young average diagnosis
Non veggie diet (Copper often in meat)

Question 3

Epidiemology of Wilson’s disease

Answer 3

30 cases per million
3 in 100000 -low
diagnosis between 10-40 usually

Question 4

Signs and Sx of Wilson’s disease

Answer 4

Hx of hepatitis in youngish pt
Hx of behavioural issues

Tremor, dysarthria, dystonia, incoordination, sloppy handwriting, dysdiadokineses

Jaundice, liver tenderness
as liver disease develop-spider nave, gynacomastia, ascites etc

EYES-copper deposits in iris

Question 5

Investigation of Wilson’s disease

Answer 5

LFT’s -raised (damage prolife-ALT and AST

24h Urine copper (over 10)
FBC-Low platelets, low WCC
Liver biopsy for copper count
brain MRI-damage
genetic profile
free blood copper