FN: Wilsons Disease

Question 1

Epi

Answer 1

􏰀 Prevalence: 3/100,000
􏰀 Age: presents between childhood and 30 (never >56)
􏰀 Genetics: AR, ATP7B gene on Chr 13

Question 2

Pathophysiology

Answer 2

􏰀 Mutation of Cu transporting ATPase
􏰀 Impaired hepatocyte incorporation of Cu into
caeruloplasmin and excretion into bile.
􏰀 Cu accumulation in liver and, later, other organs

Question 3

Clinical features

Answer 3

CLANKAH
Cornea
Liver disease
Arthritis
Neurology
Kidney
abortions
Haemolytic Anaemia

Question 4

Cornea

Answer 4

Kaysar-Fleischer rings (70%, may need slit-lamp)

Question 5

Liver Disease

Answer 5

• children usually present with acute hepatitis
• fulminant necrosis may occur
• -> cirrhosis

Question 6

Arthritis

Answer 6

􏰀 Chondrocalcinosis 􏰀 Osteoporosis

Question 7

Neurology

Answer 7

􏰀 Parkinsonism: bradykinesia, tremor, chorea, tics
􏰀 Spasticity, dysarthria, dysphagia
􏰀 Ataxia
􏰀 Depression, dementia, psychosis

Question 8

Kidney

Answer 8

􏰀 Fanconi’s syn. (T2 RTA) → osteomalacia

Question 9

Haemolytic anaemia

Answer 9

􏰀 Coombs’ negative

Question 10

Ix

Answer 10

􏰀 Bloods: ↓Cu, ↓ caeruloplasmin NB. Caeruloplasmin is an acute-phase protein and may be high during infection. It may also be low protein- deficient states: nephrotic syndrome, malabsorption

􏰀 ↑ 24h urinary Cu
􏰀 Liver biopsy: ↑ hepatic Cu
􏰀 MRI: basal-ganglia degeneration

Question 11

Rx

Answer 11

Diet: avoid high Cu foods: liver, chocolate, nuts
􏰀 Penicillamine lifelong (Cu chelator)
􏰁 SE: nausea, rash, ↓WCC, ↓Hb, ↓plats, lupus, haematuria
􏰁 Monitor FBC and urinary Cu excretion
􏰀 Liver Tx if severe liver disease
􏰀 Screen siblings
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