Gastro Cram Flashcards
Pathogenesis of eosinophilic oesophagitis?
Infiltration of epithelium with eosinophils
T-helper type 2 cytokine mediated
Investigation findings of eosinophilic oesophagitis?
Eosinophilia, high IgE
Endoscopy: longitudinal furrows with white plaques and loss of vascular patterns
Diagnosis of eosinophilic oesophagitis?
> 15 eosinophils on biopsy
Persistence of eosinophilia after PPI trial
Management of eosinophilic oesophagitis?
Elimination diet of allergens - milk & wheat common
PPI
Topical steroid - fluticasone/budesonide
Anti IL-5 agents (mepolizumab)
Complications of eosinophilic oesophagitis?
Stricture
Perforation
Food bolus - needs endoscopic removal
Pathogenesis of GORD?
Transient relaxation of LES -> oesophagitis
Disease = reflux + epithelial change, FTT/asp pneumonia
Peak of physiologic reflux?
4 months, usually settles by 12-18mths
GORD with torticollis / dystonic writhing movements and food refusal?
Sandifer Syndrome
Management of GORD?
Positioning Proper feed technique, volume and frequency Thickened feed Hypoallergenic diet PPI -> reduces acidity and discomfort
SEs of PPIs?
Respiratory infections
C Diff, Candida
Low magnesium and low B12
Interstital nephritis
Indications for fundoplication?
Not responsive to medical therapy Peptic strictures or Barrett's Gastrostomy feeds Respiratory disease Neurological disease
Difference between ulcerative colitis and Crohn’s?
Crohn’s - panenteric; UC - colonic
Crohn’s - skip lesions; UC - confluent
Crohn’s - transmural inflammation; UC - Mucosal
Crohn’s - Granulomas; UC - none
Most common mutation causing Crohn’s?
NOD2
Extra-intestinal manifestations of Crohn’s?
Episcleritis (topical steroids)
Uveitis (systemic steroids)
Acute anterior uveitis (urgent topical/systemic steroids) and secondary glaucoma
Erythema nodosum
Pyoderma gangrenosum (less than UC)
Anal fissures 6 and 12 o’clock
Arthritis (<5 joints HLA-B27; >5 HLA-B44)
Abdo pain, diarrhoea and weight loss?
Crohn’s
Abdo pain, diarrhoea and PR bleeding?
UC
Induction of remission in Crohn’s
- Exclusive enteral nutrition (better for mucosal healing)
- Steroids
- Infliximab
Maintenance therapy in Crohn’s?
Mesalazine/sulfasalazine
Azathioprine (6MP prodrug)
Methotrexate
Infliximab/Adalimumab
Azathioprine SEs?
Hypersensitivity - rash, fever Hepatitis Reduced cell counts - TMPT genotype & monitor Pancreatitis HSV and HPV Hepatosplenic T-cell lymphoma Sun sensitivity
Anti-TNF alpha SEs?
Infliximab (chimeric) /Adalimumab (human)
Hepatosplenic T-cell lymphoma (with AZA)
TB reactivation
Demyelination syndrome
Lupus like syndrome
Indications for surgical management of Crohn’s?
Failure of medical management Recurrent obstruction Perforation FIstula/abscess If terminal ileum ONLY & poor growth Carcinoma
When to start bowel ca screening in IBD?
10 years after colonic disease diagnosed
Extra-intestinal manifestations in UC?
More common than Crohn's Pyoderma gangrenosum Sclerosing cholangitis Hepatitis Ankylosing spondylitis
Child with UC presents with fever, profuse stooling (>5/day), low Hb, low albumin, and high WCC?
Fulminant colitis
DO NOT SCOPE - risk of toxic megacolon and perforation
Induction of remission in UC?
- Steroids
- Cyclosporin
- Infliximab
Maintenance therapy in UC?
Mesalazine/sulfasalazine
Azathioprine/6MP
Probiotics helpful
Indication for surgery in UC?
Haemorrhage
Perforation
Cancer
Refractory acute disease
Methotrexate SEs?
Nausea - 25%, reduce with folate Liver toxicity Bone marrow suppression Infections Pulmonary fibrosis
Pathogenesis of coeliac disease?
T-cell mediated inflammatory disorder
Altered intestinal permeability
Gliadin stimulates IL-15 which activates T-cells with HLA-DQ2,8
Biopsy findings in coeliac?
High intra-epithelial lymphocytes
Villous atrophy
Crypt hyperplasia
Loss of brush border
Disorders associated with coeliac?
T1DM Autoimmune thyroid disease Addison Sjogren Autoimmune cholangitis/hepatitis Primary billiary cirrhosis
if TTg greater than normal but less than 10x normal range?
Proceed to scope
If TTg is >10x normal and positive EMA no scope required
Role of HLA-DQ2,8 typing?
Screening of family members
Excluding coeliac if on a GF diet
Stratification for biopsy need
Painful and intensely pruritic rash in coeliac?
Dermatitis herpetiformis
Gluten avoidance & dapsone
Risk factors for coeliac disease?
Down syndrome highest risk 1st degree relative T1DM Autoimmune thyroid disease IgA deficiency Juvenile arthritis Turners, Williams syndromes
Meckel’s Diverticulum rule of 2?
2% of infants 2% symptomatic Up to age 2 2 inches long 2ft proximal to ileocecal valve 2 types of tissue - gastric and pancreatic
Painless rectal bleeding with normal external exam
Meckel’s
Enzyme responsible for conjugation of bilirubin?
BUGT
Enzyme defect in Gilbert’s Syndrome?
Extra TATA repeat reduces BUGT enzyme activity
Causes of isolated unconjugated hyperbilirubinaemia?
Gilbert's (reduced BUGT) Criggler Najjar (absence of BUGT)
Bile duct paucity?
Alagille’s
RAS positive diastase resistant granules?
A1 Anti-trypsin deficiency
MRD3 staining?
Progressive Familial Intrahepatic Cholestasis type 3
Causes of conjugated hyperbilirubinaemia and pale stools/dark urine?
Neonatal hepatitis
Biliary Atresia
A1 Anti-trypsin
Episodic cholestasis with lymphedema of lower limbs?
Aagenaes syndrome
Liver disease, renal cysts, hypotonia, psychomotor retardation. Hepatic cells on ultrasound have no peroxisomes?
Zellweger’s
Autosomal recessive inheritance
Major features of Alagille’s?
Cholestasis with bile duct paucity Cardiac lesions - peripheral PS/tetralogy Posterior embryotoxon Vertebral anomaly Dysmorphic facies
Minor features of Alagille’s?
Vascular anomalies - circle of willis Short stature, short radii Delayed puberty High pitched voice Renal anomalies Hypercholesterolaemia
Common complications of Alagilles?
Pruritic (bile salt accumulation in skin)
VItamin E deficiency
Hepatomegaly
Conjugated hyperbilirubinaemia
Persistently acholic stools
Biliary Atresia
Syndromic biliary atresia?
Biliary atresia and splenic malformation (BASM) Abdominal stud inversus Polysplenia Portal vein anomalies Malrotation
Optimal timing for Kasai?
<1month
Worth considering still if older or has “non-correctable” type to decompress/drain biliary tree while awaiting transplant
Mixed hyperbilirubinaemia
FTT
Renal tubular acidosis
Sepsis - E. Coli
Galactosaemia
Defect in galactosaemia?
Autosomal recessive
GALT, GALK or GALE deficiency
Is galactoseaemia included in newborn screening in Vic?
No
Liver disease
Neuro/psych manifestations
High AST:ALT ratio, normal/low ALP
High urinary copper, low caeruloplasm
Wilson’s Disease
ATP7B mutation - copper transport dysfunction
Management of Wilsons?
Penicillamine first line
Trientine second line
Zinc supply if pre-symptomatic only
Penicillamine SEs?
B6 deficiency and parasthesia
Defect in A1 anti-trypsin deficiency?
SERPINA1 gene defect
Results in Z allele - PiZZ
Heterozygotes PiZ increase risk of liver disease later (NAFL, hep C)
Massive hepatomegaly in infants
Neonatal haemochromotosis
Glycogen storage disorder
Hepatic haemagioma
Most common malignant and non-malignant hepatic tumours in infancy?
Malignant - hepatoblastoma
Non-malignant - hepatic haemangioma
Conditions associated with hepatocellular carcinoma?
Glycogen storage disorders
Tyrosinaemia
Progressive Familial Intrahepatic Cholestasis 2
Conditions associated with hepatoblastoma?
Beckwith Wiedemann
FAP
Congenital retinal pigmentation
Most common cause of acute liver failure?
Seronegative viral infection
Viral most common; metabolic second most
Highest risk population for chronic Hep B carriage?
Neonates - 95% become chronic asymptomatic carriers if exposed
Complication of Kasai procedure?
Ascending cholangitis - conduit not sterile
Recurrent cholangitis is indication for transplant
Bile duct dilatation and renal cysts?
Caroli Syndrome
Most common causes of paediatric pancreatitis?
Idiopathic Trauma Biliary stones Systemic - HUS/IBD Drugs - valproate, asparaginase, azathioprine/6MP
Use of TPN in pancreatitis?
NEVER
Complications of pancreatitis?
Pseudocyst
Pancreatic abscess
Hereditary pancreatitis?
SPINK1
Hirschprung Disease mutation?
RET
Chronic diarrhoea
Steatorrhoea
Low lymphocytes and low Ig
Recurrent infection
Intestinal lymphangiectasia
Glucose galactose malabsorption mutation?
SCL5A1
Hereditary fructose malabsorption mutation?
ALDOB
Coeliac gene with highest risk of refractory disease/enteropathy-related T cell lymphoma?
HLA-DQ2
Brown spots/macules peri-oral
Bowel polyp
Fhx colon/breast ca
Peutz-Jegher
Germline STK mutation (tumour supressor gene)
Polyp and location in Peutz-Jegher syndrome?
Hamartomatous polyps
small bowel (60-90%, most jejunal)
15x increase in malignant transformation
Chronic abdo pain
Altered bowel habits
No organic cause
Irritable Bowel Syndrome
Management of IBS?
Diet
CBT
Intestinal failure/short-gut
Long term PN
Cholestatic LFTs
Intestinal Failure Associated Liver Disease
Management of intestinal failure associated liver disease?
Avoid soybean emulsion (fish-oil preferred)
Reduction of trace elements
Urso
Most common location of gastric and duodenal ulcers?
Gastric ulcers - lesser curvature of stomach
Duodenal ulcers - 90% duodenal bulb
Management of H Pylori and antibiotic resistance?
Triple therapy - amoxy, clarithro and PPI
50% of H Pylori in Aus resistant to metro
