Gastroenterology

Question 1

Causes of acute pancreatitis

Answer 1

• Blunt abdominal trauma
• Gallstones or biliary sludging
• Idiopathic
• HUS
• Familial pancreatitis
• Kawasaki disease
• Drug toxicity
  
  • Sodium valproate
  • Asparaginase
  • 6-mercaptopurine
    
    • Azathioprine

Question 1

Risk factors/ syndromes associated with Hirschsprung Disease?

Answer 1

• Male
  
  • Sibling with Hirschsprung disease
  • T21
  • Smith-Lemli Opitz
  • Waardenburg
  • Bardet-Biedl syndrome
  • MEN2
    
    • Congenital central hypoventilation syndrome

Question 2

What are Cullen sign and Grey Turner sign?

Answer 2

Signs of acute haemorrhagic pancreatitis

Cullen: bluish discolouration around umbi
Grey-Turner: bluish discolouration of flank

Question 3

Genetic causes of pancreatitis

Answer 3

SPINK1 (serine protease inhibitor)
PRSS1 (80% of AD hereditary pancreatitis)
CRTC (chymotrypsin C)

Question 4

3 features to diagnose eosinophilic oesophagitis?

Answer 4

1. Consistent history
2. Eosinophil predominant inflammation on oesophageal biopsy (>15/hpf)
3. Exclusion of other causes

Question 5

Management of Eosinophilic oesophagitis?

Answer 5

Diet modification (elimination of allergens)
Topical steroids eg swallowed fluticasone
PPI

Next line: Dupilumab (anti-IL4)

Question 6

Risk factors for coeliac disease?

Answer 6

• Down syndrome (12%)
• Type 1 DM (3-12%)
• Ig A deficiency (8%)
• Autoimmune thyroid disease (2-7%)
• Turner syndrome (2-5%)
• Williams syndrome (8-9%)
• First or second degree relative with coeliac disease (1st degree= 10%)

Question 7

Which antibody is most specific for coeliac disease?

Answer 7

IgA anti-endomysial (97-100%)

vs gliadin (85-95%) and tissue transglutaminase (95-97%)

Question 8

Which HLA gene locus is strongly associated with coeliac disease?

Answer 8

HLA-DQ2 (90%)

Otherwise HLA-DQ8

Question 9

Features of Alagille syndrome

Answer 9

“Yellow flappy butterfly”

*Peripheral pulmonary artery stenosis
*Neonatal cholestasis with paucity of intrahepatic ducts
* Butterfly vertebrae
* TOF (tetralogy)
* Abnormal radius/ulna
* Characteristic facies: pointed chin, moderate hypertelorism, prominent forehead

Question 10

Mutation causing Alagille syndrome

Answer 10

JAG1 (95%)
AD inheritence

A small % will have NOTCH2 mutation

Question 11

3 main causes of conjugated jaundice?

Answer 11

1. Infection (TORCH, Hepatitis A,B,C)
2. Obstructive (e.g BA, choledochal cysts, Alagille)
3. Metabolic (Eg Wilsons, PFIC, A1AT)

Question 12

Screening tests for hepatitis A, B, C

Answer 12

Hep A: HAV IgM
Hep B: HBsAg and HBc IgM
Hep C: anti-HCV antibody

Question 13

Similarities of Gilbert and Crigler- Najjar syndrome

Answer 13

• Both cause unconjugated hyperbilirubinemia due to reduced UGT enzyme which conjugates bilirubin
• Both caused by UGT1A1 mutation

Question 14

Difference between Gilbert and Crigler-Najjar syndrome

Answer 14

• Gilberts: mild unconj. hyperbilirubinemia with no haemolysis or hepatocellular damage. More mild UGT reduction
• C-N2: Markedly reduced UGT. Resolves with phenobarbital (not given long term)
• C-N1: Absent UGT. Severe hyperbilirubinemia + risk of kernicterus

Question 15

Main features that can occur in Wilsons Disease

Answer 15

• Liver impairment (hepatits/cirrhosis)
• Neurological (dysarthria, ataxia etc)
• Psych (mood disorders, cognitive changes, psychosis)
• Haemolytic anaemia (non-immune)
• Fanconi syndrome

Question 16

Lab findings in Wilson disease

Answer 16

• Elevated transaminases and bilirubin
• Low serum ceruloplasmin
• High urinary copper excretion

Question 17

Gene mutation in Wilsons diease

Answer 17

ATP7B gene (autosomal recessive)

Question 18

Which type of PFIC causes elevated GGT?

Answer 18

PFIC 3
they all cause conjugated hyperbilirubinemia

Question 19

Antibodies in autoimmune hepatitis

Answer 19

ANA often positive
Anti-smooth muscle ab (type 1)
Anti-LKM (type 2)
Anti-ALC1 (type 2)

Question 20

Transaminitis with elevated total protein and globulins think..

Answer 20

Autoimmune hepatitis

Question 21

Management of autoimmune hepatitis

Answer 21

• Corticosteroids
• Azathioprine or 6MP
• Liver transplant in refractory cases

Question 22

What is primary sclerosing cholangitis commonly associated with?

Answer 22

Ulcerative colitis

Question 23

Labs in neonatal haemochromatosis (neonatal alloummune liver disease)

Answer 23

High ferritin
Hyperbilirubinemia
Hypoglycemia
Low albumin
coagulopathy that is refractory to Vitamin K

Question 24

Management of neonatal haemochromatosis (neonatal alloummune liver disease)

Answer 24

IVIG IVIG for mum in subsequent pregnancies Iron chelation

Question 25

Which fat can be directly absorbed into bloodstream?

Answer 25

Medium chain triglycerides

Question 26

What cancer is familial Adenomatosis polyposis (FAP) associated with (APC gene)?

Answer 26

Hepatoblastoma!! also gastric, thyroid, pancreatic, adrenal, rectal

Question 27

What is Budd-Chiari Syndrome?

Answer 27

Occlusion of the hepatic veins (usually by a blood clot) -> abdominal pain, ascites, hepatomegaly +/- acute liver failure Usually due to hyper coagulable state

Question 28

Stool osmotic gap in secretory diarrhoea?

Answer 28

<50 stool osmotic gap= stool osmolality - 2x (stool Na+ + stool K+). Normal is 50-100

Question 29

Stool osmotic gap in osmotic diarrhoea?

Answer 29

>100