Gastro Cram Flashcards by Olivia Wells

Pathogenesis of eosinophilic oesophagitis?

Infiltration of epithelium with eosinophils

T-helper type 2 cytokine mediated

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Investigation findings of eosinophilic oesophagitis?

Eosinophilia, high IgE

Endoscopy: longitudinal furrows with white plaques and loss of vascular patterns

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Diagnosis of eosinophilic oesophagitis?

> 15 eosinophils on biopsy

Persistence of eosinophilia after PPI trial

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Management of eosinophilic oesophagitis?

Elimination diet of allergens - milk & wheat common
PPI
Topical steroid - fluticasone/budesonide
Anti IL-5 agents (mepolizumab)

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Complications of eosinophilic oesophagitis?

Stricture
Perforation
Food bolus - needs endoscopic removal

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Pathogenesis of GORD?

Transient relaxation of LES -> oesophagitis

Disease = reflux + epithelial change, FTT/asp pneumonia

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Peak of physiologic reflux?

4 months, usually settles by 12-18mths

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GORD with torticollis / dystonic writhing movements and food refusal?

Sandifer Syndrome

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Management of GORD?

Positioning
Proper feed technique, volume and frequency
Thickened feed
Hypoallergenic diet 
PPI -> reduces acidity and discomfort

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SEs of PPIs?

Respiratory infections
C Diff, Candida
Low magnesium and low B12
Interstital nephritis

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Indications for fundoplication?

Not responsive to medical therapy
Peptic strictures or Barrett's
Gastrostomy feeds
Respiratory disease
Neurological disease

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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

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Most common mutation causing Crohn’s?

NOD2

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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)

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Abdo pain, diarrhoea and weight loss?

Crohn’s

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Abdo pain, diarrhoea and PR bleeding?

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Induction of remission in Crohn’s

Exclusive enteral nutrition (better for mucosal healing)
Steroids
Infliximab

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Maintenance therapy in Crohn’s?

Mesalazine/sulfasalazine
Azathioprine (6MP prodrug)
Methotrexate
Infliximab/Adalimumab

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Azathioprine SEs?

Hypersensitivity - rash, fever
Hepatitis
Reduced cell counts - TMPT genotype & monitor
Pancreatitis
HSV and HPV
Hepatosplenic T-cell lymphoma
Sun sensitivity

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Anti-TNF alpha SEs?

Infliximab (chimeric) /Adalimumab (human)

Hepatosplenic T-cell lymphoma (with AZA)
TB reactivation
Demyelination syndrome
Lupus like syndrome

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Indications for surgical management of Crohn’s?

Failure of medical management
Recurrent obstruction
Perforation
FIstula/abscess
If terminal ileum ONLY & poor growth
Carcinoma

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When to start bowel ca screening in IBD?

10 years after colonic disease diagnosed

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Extra-intestinal manifestations in UC?

More common than Crohn's
Pyoderma gangrenosum 
Sclerosing cholangitis
Hepatitis
Ankylosing spondylitis

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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

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Induction of remission in UC?

1. Steroids 2. Cyclosporin 3. 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?

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