Metabolic Liver Diseases

Question 1

What is haemochromatosis?

Answer 1

Too much iron

Question 2

What mutation occurs in haemochromatosis?

Answer 2

AR HFE gene

Question 3

What happens in haemochromatosis?

Answer 3

Increased intestinal iron absorption resulting in accumulation of iron in organs and this causes damage

Question 4

Where can iron accumulate in haemochromatosis?

Answer 4

Liver, joints, pancreas, heart, skin, gonads

Question 5

What organ damage can occur in haemochromatosis?

Answer 5

Liver fibrosis, cirrhosis, HCC

Question 6

How does haemochromatosis present?

Answer 6

Fatigue, arthralgia, weakness, hypogonadism, slate-grey or brownish/bronze skin, chronic liver disease, heart failure, arrhythmias

Question 7

What investigations would you do for haemochromatosis?

Answer 7

Iron study, LFTs, genetic testing, liver biopsy, MRI to detect iron overload

Question 8

What investigation is gold standard for haemochromatosis?

Answer 8

Liver biopsy

Question 9

What management would you do in haemochromatosis?

Answer 9

Venesection, chelation, liver transplant

Question 10

What drug is used for chelation in haemochromatosis?

Answer 10

Desferrioxamine

Question 11

What is Wilson’s Disease?

Answer 11

Too much copper in liver and CNS

Question 12

What happens in Wilson’s?

Answer 12

Error of copper metabolism leads to copper deposition in organs

Question 13

Where can copper be deposited in Wilson’s?

Answer 13

Liver, basal ganglia, cornea

Question 14

What psychiatric presentations are there in Wilson’s?

Answer 14

Depression, neurotic behavioural problems

Question 15

What CNS problems are there in Wilson’s?

Answer 15

Tremor, dysarthria, involuntary movements, dysphagia, reduced memory, eventual dementia

Question 16

What liver problems are there in Wilson’s?

Answer 16

Hepatitis, cirrhosis

Question 17

What is copper in the cornea producing a green/brown circle called?

Answer 17

Kayser-Fleischer ring

Question 18

What blood results would you expect in Wilson’s?

Answer 18

Serum copper and ceruloplasmin reduced but can be normal

Question 19

What would you expect 24h urinary copper excretion to be in Wilson’s?

Answer 19

High

Question 20

What is the gold standard investigation of Wilson’s?

Answer 20

Liver biopsy

Question 21

How do you manage Wilson’s?

Answer 21

Avoid high copper foods, chelating agent, liver transplant

Question 22

What are high copper foods?

Answer 22

Liver, chocolate, nuts, mushrooms, shellfish

Question 23

What chelating agent is used in Wilson’s?

Answer 23

Penicillamine

Question 24

What are side effects of penicillamine?

Answer 24

Skin rashes, wall in WCC/Hb/Platelets, haematuria, renal damage