GASTRO

Question 1

Wilson’s disease is AR characterised by excessive copper deposition in the tissues. Increased copper absorption from SI and decreased hepatic copper excretion. Give features.

Answer 1

Symptoms results from excess copper deposition in brain, liver and cornea.

Basal ganglia degeneration e.g. parkinsonism, dementai, asterixis, speech, behavioural problems.

Kayser-Fleischer rings

RTA e.g. Fanconi syndrome

Haemolysis
Blue nails
Hepatitis and cirrhosis

Children usually present with liver disease, young adults usually neurological disease

Question 2

Most useful test to screen for HH?

Answer 2

Transferrin saturation

Ferritin should also be measured but it is not usually abnormal in the early stages of iron accumulation

Question 3

Best test to screen family members of a confirmed HH dx?

Answer 3

HFE genetic testing - C282Y and H63D mutations.

Question 4

Typical iron study results for a patient with HH?

Answer 4

Transferrin saturation >55% men / >50% women

Raised ferritin and iron

Low TIBC

Question 5

What is the equation for working out alcohol units?

Answer 5

% ABV x vol (ml) / 1000

Question 6

HNPCC cancers:

Answer 6

Colorectal
Endometrial
Pancreatic

Question 7

New onset dysphagia investigation:

Answer 7

OGD urgent
Red flag for oesophageal cancer

Question 8

Why do patients with coeliac disease get vaccinations?

Answer 8

Functional hyposplenism

Question 9

Managemtn f wilsons disease

Answer 9

Penicillamine

Question 10

triad of hepatorenal syndrome:

Answer 10

Ascites, Cirrhosis, AKI

Question 11

Management of hepatorenal syndrome:

Answer 11

Terlipressin - vasoconstriction of the splanchnic circulation

Volume expansion with 20% albumin (this can be a clue to HRS in the question stem)

TIPS

Question 12

Hepatocellular injury vs cholestasis on LFTs:

Answer 12

Hepatocellular:
ALT >10x increase
ALP <3x increase

Cholestatic:
ALT <10x increase
ALP >3x increase

Question 13

What is the most useful marker in haemochromatosis, and what would full iron studies show?

Answer 13

TRANSFERRIN is most useful

TIBC low

Transferrin saturation high

Raised ferritin and iron.

Ferritin is not usually increased in early stages of iron accumulation.

Question 14

Alcoholic liver disease GGT level:

Answer 14

x2 upper limit of normal

If GGT and ALP both raised = cholestasis

Question 15

Hepatocellular injury drug causes PASS:

Answer 15

Paracetamol
Alcohol
Sodium Valproate
Statins