Wilsons Disease

Question 1

What is Wilson’s disease

Answer 1

Autosomal recessive disorder of copper transporting ATPase, ATP76
copper excess which is deposited in the liver and CNS (basal ganglia)
It is treatable

Question 2

What is the physiology of Wilson’s disease

Answer 2

In the liver copper is incorporated into caeruloplasmin in hepatocytes and excretion into bile is impaired

Question 3

Signs

Answer 3

Children -liver disease (hepatitis, cirrhosis, fulminant liver failure)
Young adults - CNS signs, Tremor, dysarthria, dysphagia, dyskinesia, dementia, Parkinsonism, ataxia
Mood: depression, Mania, labile emotions, inc dec libido, personality change
Cognitions: dec memory, slow problem solving, dec IQ, delusions, mutism
Kayser Fliescher rings on iris
Haemolysis, blue lunulae, arthritis, hyper mobile joints

Question 4

Tests

Answer 4

1 urine 24 hr copper excretion high
Normal 40
2 inc LFT
3 serum copper high 6x limit of normal
4 dec serum caerouloplasmin <200
<140 psthognominic 
5 genetic testing 
6 slit lamp kayser fleischer rings
7 liver biopsy High copper, hepatitis, cirrhosis, 
8 MRI degeneration in basal ganglia, front temporal , cerebellar and brain stem

Question 5

Mangement

Answer 5

Diet avoid High copper food, check water sources
Medical life long penicillamine
500mcg 6-8 hr PO
And then maintenance 0.75-1g/day forever
Surgery may need liver transplant
If severe

Question 6

SE of penicillamine

Answer 6

Nausea
Rash
Dec WCC
Dec Hb
Dec platelets
Haematuria
Nephrosis
Lupus
Need to monitor FBC , urinalysis copper, protein excretion

Question 7

What needs to be done to family

Answer 7

Screened if asymptomatic need treatment

Question 8

Prognosis

Answer 8

Pre cirrhosis reversible
CNS damage not so much
No clear prognostic indicators
Fatal events, liver failure, bleeding , infection