Case 3 Liver

Question 1

Obese T2DM with abnormal LFTs - ?

Answer 1

non-alcoholic fatty liver disease

Question 2

Non alcoholic fatty liver disease features

Answer 2

usually asymptomatic
hepatomegaly
ALT is typically greater than AST
increased echogenicity on ultrasound

Question 3

Features vitamin C deficiency

Answer 3

gingivitis, loose teeth
poor wound healing
bleeding from gums, haematuria, epistaxis
general malaise

Question 4

This is a typical history of carcinoid syndrome-

Answer 4

flushing, diarrhoea, bronchospasm, hypotension, and weight loss.

Question 5

Diagnosing cardioid syndrome

Answer 5

Investigation
urinary 5-HIAA
plasma chromogranin A y

Question 6

A combination of liver and neurological disease points towards
As well as

liver: hepatitis, cirrhosis
neurological: basal ganglia degeneration, speech, behavioural and psychiatric problems are often the first manifestations. Also: asterixis, chorea, dementia
Kayser-Fleischer rings
renal tubular acidosis (esp. Fanconi syndrome)
haemolysis
blue nails

Answer 6

Wilson’s disease

Question 7

What is the most common cause of hepatocellular carcinoma in the United Kingdom

Answer 7

Hep c

Question 8

Haemochromatosis is an autosomal recessive disorder of iron absorption and metabolism resulting in iron accumulation. It is caused by inheritance of mutations in the HFE gene on both copies of chromosome 6*.
Investigation

Answer 8

Diagnostic tests
molecular genetic testing for the C282Y and H63D mutations
liver biopsy: Perl’s stain

Typical iron study profile in patient with haemochromatosis
transferrin saturation > 55% in men or > 50% in women
raised ferritin (e.g. > 500 ug/l) and iron
low TIBC