wilson's

Question 1

definition of wilson’s

Answer 1

autosomal recessive

reduced bilary excretion of copper = accumulation in liver and brain - mainly the basal ganglia

hepatolenticular degeneration

Question 2

aetiology of wilson’s

Answer 2

gene responsible is on chromosome 13 - codes for copper transporting ATPase (ATP7B) in hepatocytes

mutation in gene interfere with copper transport into intracellular parts of the hepatocytes for conversion into caeruloplasmin and secretion into plasma; or excretion into bile = accumulation in liver

excess copper = damage of hepatocyte’s mitochondria = cell death and release of free copper into plasma = deposition in other tissues

Question 3

epidemiology of wilsons

Answer 3

prevalence 1 in 30000

carrier freq 1 in 100

liver disease may present in children >5yrs

neurological disease in young adults

Question 4

liver sx of wilsons

Answer 4

may present with Hep, liver failure, cirrhosis

jaundice

easy bruising

variceal brusiing

encephalopathy

Question 5

neuro sx of wilsons

Answer 5

• dyskinesia
• rigidity
• tremor
• dystonia
• dysarthria
• dysphagia
• drooling
• dementia
• ataxia/clumsiness
• parkinsonism

Question 6

psychiatric sx of wilsons

Answer 6

conduct disorder

personality change

psychosis

changed libido

labile emotions

Question 7

cognition sx of wilsons

Answer 7

reduced memory

slow to solve problems

reduced IQ

delusions

mutism

Question 8

signs of wilsons

Answer 8

liver

• hepatosplenomegaly
• jaundice
• ascites/oedema
• gynaecomastia
• hepatitis
• cirrhosis

neuro

eyes

• green/brown kayser-Fleischer ring at corneal limbus
• sunflower cataract (copper accumulation in lens, seen with slit lamp)

haemolysis

blue lunulae (nails)

arthritis

hypermobile joints

grey skin

Question 9

Ix for wilsons

Answer 9

blood

• raised AST ALT AlkPhos
• serum caeruloplasmin <200mg/L (<140mg/L is pathognomonic) and copper <11μmol/L (low - may have false -ves as caeryloplasmin is an acute phase protein)

24hr urinary copper levels - increased eg >100mcg/24h (normal <40mcg).

liver biopsy - increased copper content, hepatitis, cirrhosis

genetic analysis - wide variety of mutations in gene, no simple genetic test and sequencing requires specialist genetic advice

slit lamp exam - KF rings in iris/Descemet’s membrane

MRI - degeneration in basal ganglia, fronto-temporal, cerebellar and brainstem