Metabolic Liver Diseases Flashcards
What is haemochromatosis?
Too much iron
What mutation occurs in haemochromatosis?
AR HFE gene
What happens in haemochromatosis?
Increased intestinal iron absorption resulting in accumulation of iron in organs and this causes damage
Where can iron accumulate in haemochromatosis?
Liver, joints, pancreas, heart, skin, gonads
What organ damage can occur in haemochromatosis?
Liver fibrosis, cirrhosis, HCC
How does haemochromatosis present?
Fatigue, arthralgia, weakness, hypogonadism, slate-grey or brownish/bronze skin, chronic liver disease, heart failure, arrhythmias
What investigations would you do for haemochromatosis?
Iron study, LFTs, genetic testing, liver biopsy, MRI to detect iron overload
What investigation is gold standard for haemochromatosis?
Liver biopsy
What management would you do in haemochromatosis?
Venesection, chelation, liver transplant
What drug is used for chelation in haemochromatosis?
Desferrioxamine
What is Wilson’s Disease?
Too much copper in liver and CNS
What happens in Wilson’s?
Error of copper metabolism leads to copper deposition in organs
Where can copper be deposited in Wilson’s?
Liver, basal ganglia, cornea
What psychiatric presentations are there in Wilson’s?
Depression, neurotic behavioural problems
What CNS problems are there in Wilson’s?
Tremor, dysarthria, involuntary movements, dysphagia, reduced memory, eventual dementia
What liver problems are there in Wilson’s?
Hepatitis, cirrhosis
What is copper in the cornea producing a green/brown circle called?
Kayser-Fleischer ring
What blood results would you expect in Wilson’s?
Serum copper and ceruloplasmin reduced but can be normal
What would you expect 24h urinary copper excretion to be in Wilson’s?
High
What is the gold standard investigation of Wilson’s?
Liver biopsy
How do you manage Wilson’s?
Avoid high copper foods, chelating agent, liver transplant
What are high copper foods?
Liver, chocolate, nuts, mushrooms, shellfish
What chelating agent is used in Wilson’s?
Penicillamine
What are side effects of penicillamine?
Skin rashes, wall in WCC/Hb/Platelets, haematuria, renal damage
