Dunedin-Gastro Flashcards
Which high resolution manometry shows features consistent with achalasia?
A
What is achalasia?
Impaired lower oesophageal sphincter relaxation and peristalsis in distal oesophagus.
Due to myenteric plexus inflammation
Experience dysphasia for solids and liquids
Barium swallow- birds beak
What is the proposed model for the development of achalasia?
1) Viral trigger/ HLA Class II/ Mutations and SNPs
2) extracellular matrix turnover and wound repair, inflammatory infiltrate, humeral response (myenteric antibodies)
3) myenteric plexitis, ganglion cell loss, fibrosis, impaired LES
What is the treatment options for achalasia?
Surgical: Pneumatic dilation (recommended initial therapy) , Peroral endoscopic myotomy (POEM), Heller myotomy (HM) with Dor fundoplication. Complication: GERD. Esophagectomy
Medical: botulinic toxin injection, CCB, isosorbide dinitrate
Botulinum injection causes sub-mucosal fibrosis which can interfere with future surgical therapies
What is the clinical presentation of eosinophilic oesophagitis?
younger patient M>F
food bolus obstruction
chronić dysphagia solids >liquids
refractory GORD
chronic immune mediated condition related to food
infiltration of eosinophils into oesophageal mucosa >15/hpf
chronic inflammation leads to deposition of sub epithelial fibrous tissue
What is the management of eosinophilic oeseophagitis?
Double dose PPI for 8 weeks.
if not resolved:
*topical steroids 6-12 weeks (swallowed fluticasone propionate, swallowed viscous budesonide)
*dietary therapy: targeted diet, six-food elimination diet, elemental diet
Alternative therapies: endoscopic dilation in case of stenosis, prednisone, some role of immunomodulators (dupulimab) or antiallergic agents
What is included in the 6-food elimination diet?
Milk, soy, wheat, egg, nut and fish/seafood
What is the histology of Barrett’s oesophagus?
Stratified squamous epithelium replaced by cardiac type mucus secreting columnar epithelium +/- intestinal metaplasia
What is the rate of Barrett’s oesophagus progression to oesophageal adenocarcioma? and is there anything to slow/slow progression?
No dysplasia –> 0.12%
Low grade dysplasia –> 1.8%
high grade dysplasia –> 10%
if have GORD symptoms at least once a week, the risk of oesophageal adenocarcinoma is markedly increased 7.7 vs 1
Stop/slow progression:
- PPI, PPI + aspirin (less evidence)
- surgical therapy not more effective than PPI
- low grade dysplasia confirmed on 2 occasional 6 months apart by two pathologist- can trial endoscopic radiofrequency ablation.
- high grade dysplasia: oesophagectomy vs endoscopic resection
Describe the pattern of development of oesophageal adenocarcinoma compared to CRC?
oesophageal adenocarcinoma: develops in non-linear pattern over 4 years
CRC: develops in linear pattern over 10 years
Discuss screening programs for Barrett oesophagus
1) Not recommended in general population
2) consider in those with chronic reflux and multiple risk factors (Age >50 years, male sex, white race, central obesity, smoking use, first-degree relative with BE or oesophageal adenocarcinoma and presence of hiatal hernia)
3) not usually in men/women <50 with chronic GORD
Evidence for Barrett’s surveillance is weak However post-ablation should do annual gastroscopy for 5 years
What is the role of PPI initiation prior to endoscopic diagnosis in upper GI bleeding?
And post-procedure?
Pre-procedure PPI does NOT reduce mortality, the need for surgery, or the proportion of patients with high risk stigmata. DOES reduce need for endoscopic intervention
Post procedure: IV bolus + 72 hour infusion
What is the relationship between H.Pylori and ITP?
H.Pylori can cause ITP as anti-cage antibodies cross-react with platelet antigens
Is there a good use of tranxemic acid in GI bleeding?
not really
Describe the classification of peptic ulcers
Forest 1 and 2A, collective risk of bleeding is 50%
What is the management of Peptic Ulcers?
epinephrine injection + endoscopic intervention
What was the older triple therapy treatment for H.Pylori? What is the newer Quadruple therapy.
Older therapy (CAP): Clarithromycin + amoxicillin/metronidazole + PPI (omeprazole)
High levels of treatment failure owing to clarithromycin +/- metronidazole resistance
NOW- triple therapy should NOT be prescribed unless H.Pylori clarithromicin resistance rates are known to be <15%
If Resistance >15%, use Quadruple therapy for 14 days
- clarithromycin + metronidazole + amoxicillin + PPI OR
- Bismuth + metronidazole + tetracycline + PPI
Can also use sequential therapy
- PPI + amoxicillin for 5 days, then PPI + clarithromycin + metronidazole for 5 days
Describe post-eradication testing for H.Pylori
Should be done for everyone after 4 weeks of treatment
- urea breath test, faecal antigen testing, or endoscopy
- before the breath test, W/H bismuth/antibiotics for >28 days, W/H PPI >7-14 days
- before pre-faecal antigen, W/H PPI for 14 days
What to manage antiplatelet therapy in an UGI bleed.
IF aspirin used for PRIMARY prophylaxis –> W/H
If used for SECONDARY prophylaxis –> continue aspirin, but can W/H second antiplatelet (unless low risk ulcer in which case continue both)
When to scope a patient with a GP bleed on warfarin?
when INR <2.5
Describe the rates of major GI bleed in non-valvular AF on DOAC
Dabigatran and rivaroxoban highest bleeding risk
then warfarin
then apixaban
Describe reversal agents for NOACS
Dabigatran –> idarucizumab
Xa inhibitors –> Andexanet alpha, combination of clotting factors
Describe the histological features of coeliac disease
Increased intra-epithelial lymphocytes
Crypt hyperplasia
Villous atrophy
Describe testing for Coeliac disease
Anti-TTG IgA (main test)
Anti-endomysial IgA (very specific test but test is difficult)
In IgA deficiency, use IgG test- TTG-IgG, anti-DGP IgG, anti-endomysial IgG
Which haplotypes are associated with Coeliac disease?
HLADQ2/DQ8
more common in DOWN syndrome, Turners, William’s syndrome
What are the fat soluble vitamins?
ADEK
What deficiencies should you test for in Coeliac disease?
Iron deficiency anaemia
Fat soluble vitamins (ADEK)
B12 deficiency
Folate deficiency
Copper deficiency
Bone disease
Describe refractory Coeliac disease
Type 1 (85%)- lymphocyte infiltrate is the same as that in untreated CD. manage with steroids +/- steroid sparing agents e.g. azathioprine
Type 2 (15%)- CD3+ve intra-epithelial T cells with abnormal surface markers +/- oligoclonal T-cell expansion. Mx consider cladribine. High risk of transformation to enteropathy associated T-cell lymphoma (EATL)
Describe bilirubin metabolism
What are some cutaneous and extremity manifestations of cirrhosis
*spider angiomas
*gynaecomastia
*feminization- inversion of male pubic hair pattern, loss of axillary or chest hair
*palmar erythema
*testicular atrophy
*Jaundice
*nail changes- Terry nails, Muehrchke nails, clubbing
*hypertrophic osteoarthropathy
*dupuytren’s contracture
Clinical signs of cirrhosis
parotid gland enlargement (alcohol)
fetor hepaticus
ascites
caput medusae
splenomegaly
Cruveilhier-Baumgarten murmur
asterixes
Describe the stages of hepatic encephalopathy
Minimal- required neurophysiological testing- stroop test, animal naming
Grade 1- sleep/wake reversal, change in behaviour, mild confusion
Grade 2- lethargy, moderate confusion
Grade 3- Stupor, arousable, incoherent
Grade 4- unresponsive to pain. intubate
What is the role of measuring ammonia in hepatic encephalopathy?
*Gaseous ammonia (pNH3) may be more important (pH dependent).
*gaseous ammonia can pass blood brain barrier
*venous ammonia less valuable
What is the MOA of lactulose and lactitol in the treatment of hepatic encephalopathy?
1) laxative- decreases gut transit time
2) Decrease the pH of the gut lumen- lactic acid and acetic acid production thus trapping NH4
What is the treatment of hepatic encephalopathy?
1) lactulose and lactitol
2) Rifaximim (works by decontaminating the gut)
*can consider vegetable *proteins, branched-chain Amino acids
What is SAAG?
serum ascitic albumin gradient (SAAG)
ie serum albumin minus ascites albumin
if >11g/L then high, suggest portal HTN. (alcoholic hepatitis, heart failure, massive hepatic metastasis, bud-chiari syndrome, portal vein thrombosis, portal fibrosis, schistosomiasis)
If low –> leaky capillaries/tumour
*peritoneal carcinomatosis, peritoneal tuberculosis, pancreatitis, serositis, nephrotic syndrome
Ascites fluid analysis
total protein, if <10g/L –> high risk for SBP
Glucose –> similar to serum unless being consumed
LDH - increase in infection.
consider perforation if 2 out of 3 are present:
total protein >10
glucose <2.8 mmol/L
LDH greater than the upper limit of normal
What are the most common pathogens in spontaneous bacterial peritonitis?
Gut bacteria: e.coli and klebsiella
What is the treatment for spontaneous bacterial peritonitis?
cefotaxime 2gm, fluoroquinolone
IV terlipressin and IV albumin (on day 1 and day 3)
some people suggest to stop the non-selective b-blocker but this is debatable
Who do we do Spontaneous bacterial peritonitis prophylaxis for?
1) history of SBP, prolonged/indefinite use of TMP/SMX or daily fluoroquinolone
2) fluid protein <10, or total albumin <15
3) cirrhosis with gastrointestinal bleeding –> ceftriaxone 1g daily followed by TMP/SMX twice a day or ciprofloxacin 500mg twice a day for 7 days
What is the normal portal pressure? when do we worry about portal HTN?
<5mmHg
> 10mmHg worried about portal HTN
> 12mmHg worries about portal-hepatic pressure
What are causes of portal HTN?
Prehepatic –> portal and splenic vein thrombosis, splenomegaly
Intrahepatic –>
*pre sinusoidal (schistosomiasis, PBC, sarcoid)
*sinusoidal (arsenic, drugs eg amiodaroine, MTX), ALD, NAFLD
*post-sinusoidal: sinusoidal obstruction syndrome, budd-chiari, AL
Post-hepatic –> cardiac disease (CHF), constrictive pericarditis, IVC obstruction (budd-chiari)
What is the treatment of gastroesophageal varices?
pre-primary prophylaxis –> treat the underlying liver disease
Primary prophylaxis (varices present, never bled) –> screening endoscopy 1-3 years, non-selective B-blocker eg propranolol or carvedilol, endoscopic vatical ligation
Secondary prophylaxis (bled in past) –> endoscopic vatical ligation AND NSBB
Bleeding –> resus, abx, lower portal pressure (octreotide/terlipressin/sandostatin), TIPSS (transjugular intrahepatic port-systemic shunt), surgical shunt, occlude the varix (balloon tamponade, vatical ligation, sclerotherapy/cyanoacrylate glue, oesophageal stent)
How to assess haemostatic abnormalities in Liver disease?
INR useless
consider thromboelastography (TEG) or rotational thromboelastography (ROTEM)
How to treat haemostat abnormalities in liver disease with bleeding
VIt K
consider DIC
cryoprecipitate
avoid prothrombin complex, FFP, platelets
What is the mechanism behind hepatorenal syndrome?
portal HTN –> splanchic arterial vasodilation –> increased cardiac output initially –> decreased systemic vascular resistance –> decrease in cardiac output
What is the management of hepatorenal syndrome-AKI?
1) fix volume with albumin
2) terlipressin (S/E arrhythmias, cyanotic digits, splanchnic ischaemia)
3) norepinephrine and albumin
4) midodrine/octreotide/albumin
What is a cause of isolated bilirubin elevation?
Gilbert syndrome- uridine diphosphoglucuronate- glucuronosyltransferase 1A1
Crigler-Najjar syndrome (unconjugated)
Rotor and dubin-johnson syndromes (conjugated)
Haemaolysis (unconjugated)
What is a cause of isolated alkaline phosphate? (non-hepatic)
Bone disease (fracture, Paget’s, hyperparathyroidism, osteomalacia, hyperthyroidism, tumour)
pregnancy
What immune cell does primary biliary cholangitis involve?
T-lymphocytes
When are antimitochondrial antibodies positive?
in primary biliary cirrhosis
specificity of 98%
What is the treatment of primary biliary cholangitis?
ursodeoxycholic acid
obeticholic acid
What is the median survival of primary sclerosing cholangitis without a liver transplant?
12 years
What are investigation findings for primary sclerosing cholangitis?
atypical P-ANCA 30-80%, hypergammaglobulinaemia in 30%
+/- ANA, ASMA, RF
Cholangiographic diagnostic- beading, structuring
NOTE- IgG4 associated cholangitis is very hard to distinguish from primary sclerosing cholangitis
What are complications of primary sclerosing cholangitis?
*Cholangiocarcinoma: 10-15%
*Gallbladder cancer: 3-14%
*cirrhosis/portal HTN
*fat soluble vitamin deficiency/steatorrhea
*colon cancer
*metabolic bone disease
*Cholangitis
Treatment for primary sclerosing cholangitis
*ursodeoxycholic acid will provide symptom control
*endoscopic treatment of dominant biliary strictures
*Liver transplant
What Is the timing of fulminant hepatic failure?
Need to involve liver transplant people
develop acute liver injury, hepatic encephalopathy, elevated PT/INR
hyper acute <7 days
acute 7-21 days
subacute >21 days and <26 weeks
monitor with PT/INR- up to 4 times a day
What is the criteria for liver transplant in fulminant hepatic failure?
1) acetaminophen induced liver failure: arterial pH <7.30 OR grade 3 or 4 encephalopathy with PT >100seconds and Cr >340 mg/L
2) Non-acetaminophen induced liver failure
- PT >100 seconds OR
any three of the:
- Age <10 or >40 years
- non-A and non-B viral hepatitis, idiosyncratic drug reaction, Wilson, Jaundice >7 days prior to encephalopathy, PT >50 seconds, bilirubin >180mg/L
Describe the hepatitis’s
Hepatitis A
- faecal-oral route
- 28 day average incubation, no chronic disease.
- Vaccinate high risk groups, vaccinate up to the time of departure in the young, two weeks prior in older, immunocompromised, or those with liver disease.
-post-exposure prophylaxis with single dose of vaccine within 2 weeks in healthy persons 1-40 years.
- no treatment
Hep B
- incubation period 1-4 months
- chronicity determined by age of infection
- antiviral therapy not indicated for acute infection unless FHF, severe, or protracted illness.
- Mx: entecavir, or tenofovir, interferon (cant use is decompensated cirrhosis), lamivudine (safe in pregnancy)
Describe the extra-hepatic manifestations of hepatitis B
- polyarteritis nodosa
- glomerular disease (membranous nephropathy, MPGN, nephrotic syndrome)
- serum sickness (arthritis, rash)
Describe the phases of hepatitis B chronic infection
- Immune tolerant (replicative)- large amount of HBV DNA and e-
antigen, normal transaminases. May last 10-30 years.
*Replicative (Immune clearance) – Possible clearance of e-
antigen, may be HBc IgM Ab positive and alpha-fetoprotein may increase. Elevated transaminases. May recur (abortive immune clearance)
- Low or nonreplication phase/ Inactive carrier state- HBeAg negative and anti-HBeAb positive. DNA may be undetectable. Has to have normal ALT and low/no DNA over a one year period. HBsAg levels low.
- HBeAg-negative chronic hepatitis- Moderate HBV replication, HBeAg negative. Either residual virus or precore mutant
Describe indications for HBV treatment
*anyone with cirrhosis
*Immune active chronic HBV
*if HBeAg positive, HBV DNA >20,000, HBeAg pos with ALP 2x ULN
*if HBeAG negative, HBV DNA >2000 IU/ml, with ALT 2xULN
What is the management of hepatitis B?
- Mx: entecavir, or tenofovir, interferon (cant use is decompensated cirrhosis), lamivudine (safe in pregnancy)
Describe the natural history of HCV
1) acute infection leads to chronic infection in 60-85%
2) 20-30% with chronic HCV will develop cirrhosis over 20-30 years
3) many will develop hepatocellular carcinoma
note, congitive impairment independent of liver disease stage
What is a common extra hepatic manifestation of HCV?
*Lichen Planus (v common)
*essential mixed cryoglobulinaemia (leukocytolastic vasculitis, arthralgia, membranoproliferative glomerulonephritis, neurological disease, peripheral neuropathy)
*Porpyria cutanea tardia (due to decreased activity of uroporphyrinogen decarboxylase)
Describe the drugs for Hep C
Generally very good, 90% recover
1) Glecaprevir/pibrentasvir
contraindicated in hypersensitivity, severe liver
Describe Hep E
*RNA virus transmitted in water/feces
*highest incidence in Asia, Africa, middle eat, and central america
*animal reservoir (rodents, deer, boar)
*acute disease in non-immunocompromised patients
*chronic disease in those with transplants
*fulminant hepatic failure in 15-25% in women who are pregnancy
*Diagnosis with PCR detection of HEV or IgM ab to HEV
What are specific therapies for drug-induced liver disease?
NAC for paracetamol
L-carnitine for valproic acid overdose
What is the minimum threshold to cause alcoholic liver disease?
40-80gm/day for men
20-40gm/day for women
What causes the AST/ALT >2 in alcoholic liver disease?
Due to hepatic deficiency of pyridoxal 5’-phosphate.
How to treat alcoholic hepatitis?
- Prednisone 40mg daily for 28 days OR
- pentoxifylline 400mg TDS
What are the types of autoimmune hepatitis?
Type 1
- SMA and ANA, anti-actin Ab
Type 2
- Anti-LKM1
What is the treatment of autoimmune hepatitis?
Treatment not required in asymptomatic patients with normal or minimally elevated transaminases and gamma globulin levels and minimal necroinflammatory activity on biopsy.
Pred +/- azathioprine
Normalisation of labs and histology usually takes over 12 months
What are the genes involved in haemochromatosis?
HFE gene mutations –> C282Y or H63D
note, HFE is similar to MHC Class 1 proteins and must bind beta 2-microglobulin
What is the mechanism of hepcidin?
1) reduces iron transfer across the basolateral membrane of enterocytes by binding ferroportin
2) Induces macrophages to store iron
3) IL-6 upregulates Hepcidin –> anaemia of chronic disease
What are the blood tests in haemochromatosis?
Transferrin sat >45%
Ferritin >200ng/ml in men or >150ng/ml in women
What are extrahepatic manifestations of haemochromatosis?
Improvement with phlebotomy:
- cardiomyopathy
- hypogonadism
No improvement with phlebotomy
- diabetes in 50%
- arthropathy (pseudo gout, chonedrocalcinosis) second and third MCP
What is the pathogenesis of Wilson disease? and Clinical manifestations?
Accumulation of copper in the liver and brain
Clinical manigestation:
1) Liver disease (steatosis, fulminant hepatic failure with Coombs-negative haemolytic anaemia, cirrhosis, acute liver failure)
2) neurological disease (MRI may show basal ganglia hyperintensity on T2-weighted images), elevated copper in CSF
3) Psychiatric
What is unique about LFT in Acute liver failure Wilsons disease ?
ALP is typically normal
How to diagnose Wilsons disease?
Serum copper is LOW (decreased ceruloplasmin
Urine copper 2-3x normal
24 hour urine after 500mg D-penicillamne
>1600 mcg Cu diagnostic
More are compound heterozogytes
What is the treatment for Wilsons disease?
1) Copper removal via chelators –> D-penicillamine (can worsen Neuro symptoms), trientine, tetrathiomolybdate
2) low copper diet
3) oral zinc (interferes with Cu absorption
What is the leading cause for mortality after a liver transplant?
Infection- highest risk in the first 3 months
CMV- arthralgias, leukopenia, recent treatment for rejection
Complications post liver transplant:
- biliary obstruction or hepatic arter thrombus
- HTN
- Diabetes
- dyslipidaemia
- metabolic bone disease
- malignancy (should do an annual full exam with full body dermatologic exam), annual PSA or PAP
What are causes of chronic pancreatitis including genetic causes?
-Genetic- CFTR, SPINK1, PRSS-1
-Alcohol abude
- ductal obstruction (trauma, stone, pseudocyst)
- tropical pancreatitis
- autoimmune pancreatitis
- systemic disease - SLE, hyperparathyroidism, idiopathic
What is the pathogenesis in chronic pancreatitis?
Poorly understood
a) increase in protein secretion without increase in bicarbonate
b) patchy inflammatory change
What is the best imaging modality for chronic pancreatitis?
*MRI Brain
*fecal elastase is the most sensitive and specific lab test
How to manage pancreatic insufficiency (conservatively)?
*Low fat diet (20gm/day)
*pancreatic enzyme supplements
*Medium chain triglycerides
What is the most common type of pancreatic cancer?
ductal adenocarcinoma
What germline mutations are associated with pancreatic cancer?
BRCA1, BRCA2, and PALB2
What is the treatment of IBD?
Chrohns disease
- induction: steroids
- Maintenance: azathioprine/6-MP, TGN/MTX or biologic
- surgery
Ulcerative colitis
- if distal colitis can give 5-ASA rectally, if pancolitis give it oral
- steroids
- Maintenance: oral 5-ADA< azathioprine, IV cyclophosphamide, surgery
Biologics
- infliximab, adalimumab
- anti-integrin: vedoluzimab
- anti-IL12/23: ustekunimab
Describe the azathioprine metabolism
people can intermittently shunt. some people develop it in pregnancy
some people are shunters, you jsut cant get 6TGN levels higher despite giving more 6-MP or azathioprine
Are thiopruines safe in pregnancy?
Yes. no evidence of teratogenicity. no effect on male fertility.
What are treatment targets in IBD?
1) symptom control
2) normalisation of CRP
3) decrease in calprotectin
4) endoscopic healing, normalised QoL and absence of disability
in Crohns, we look for transmural healing
in UC, we look for histological healing
What is the MOA of ustekunimab? S/E
Monoclonal antibody that target the p40 subunit of IL-12 and IL-23
herpes zoster! resp infection
What is the MOA of vedoluzimab?
Humanised IgG1 monoclonal antibody to alpha4beta7 integral
Prevents lymphocyte migration from bloodstream to gut.
Gut specific
Fertility and IBD
- No evidence that UC or CD affect fertility
- in males. sulphasalazine causes reversible oligospermia
- cesarean section in indicated in active peri-anal disease or active rectal involvement
*if conception occurs at a time of quiescent disease, the risk of relapse is the same as in non-pregnant women. pregnancy influence the course of inflammatory bowel disease.
IBD drugs and pregnancy
methotrexate and thalidomide are contraindicated
metronidazole and cipro should be avoided first trimester
Anti-TNF drugs can cross the placenta in the 3rd trimester
Vaccinations and immunomodulator therapy such as in IBD
- Can give live-vaccines after 3-6 months after stopping immunomodulator therapy
- wait at least 3 weeks after immunisation with a live vaccine before starting immunomodulator treatment
Describe symptoms of fulminant colitis
1) bloody stool frequency >6/d
2) tachycardia
3) hyperthermia
4) anaemia <105
5) high ESR
Describe predictors of colectomy in IBD
deep ulcers
extensive loss of surface
well-like ulcers
large mucosal abrasions
Indications:
- dysplasia
- fulminant colitis/toxic megacolon
- failure of medical therapy
Managing acute fulminant ulcerative colitis
IV steroids
azathioprine
cyclosporine+ infliximab
may need surgery
How soon after UC do we monitor for colon cancer?
Colonoscopy after 8-10 years after pan colitis
if low risk –> 5 years
intermediate risk (extensive UC/CD with mild active inflammation, post-inflammatory polyps) –> 3 ears
high risk (extensive UC/CD with mod-severe active inflammation), PSC –> every year
What is the criteria for IBS?
Recurrent abdominal pain on at least one day/week for the last 3 months (with symptom onset at least 6 months ago*):
* PLUS 2 or more of:
– Association with defaecation
– Change in stool frequency
– Change in stool consistency
Describe Bristol stool chart
What is the treatment of IBS?
Diet –> peppermint oil
Psychological treatment –> reassurance
Hypnotherapy
Analgesia –> anti-spasmodics (mebeverine, hyoscine butylbromide/buscopan)
TCA–> amitriptylline/nortriptyline
SSRIs
Avoid NSAIDS and opiates/opiods
Laxatives - avoid lactulose, trial fibre, polyethylene glycol, stimulants, anti-diarrheas (loperamide)
Bile acid sequestrates - cholestid/cholesitpol
Antibiotics- limited evidence
What is a FODMAP diet?
Fermentable
Oligo-saccharides
Di saccharides
Monosaccharides
and
Polyols
What is the genetics of Familial adenomatous polyposis?
What clinical syndromes does it form?
APC gene chromosome 5
Clinical syndromes:
1) Gardner’s syndrome –> osteomas, odontomas, epidermoid cysts, dermoid tumours
2) Turcot’s syndrome –> CNS malignancies
3) Attenuated FAP
Describe different hamartomatous polyposis syndrome
Peutz-Jeghers Syndrome –>
*perioral pigmentations, pigmentations of fingers, upper and lower gastrointestinal hamartomatous lesions, small bowel and pancreatic cancer, colorectal cancer and sex-cord tumours
*LKB1 mutation (STK11)
Familial juvenile polyposis
* gastrointestinal hamartomatous polyps, increased risk of gastrointestinal cancer
* Smad4, BMPRIA, PTEN
Cowden’s disease
* colonic hamartomatous polyps, benign and malignant neoplasms of thyroid, breast, uterus and skin
Bannayan-Ruvalcaba-Riley Syndrome
*microcephaly, fibromatous, hamartomatous polyposis, hemangiomas, speckled penis
*PTEN mutation
Describe screening/surveillance of FAP and HNPCC
Summaries colorectal cancer genes and inheritance pattern
Describe when to do bowel cancer screening
FIT 2yearly ages 45-74
Approach to polyps in screening colonoscopy
1) Hyperplastic polyps –> small and in left colon, no risk of malignancy
2) tubular adenomas –> all have low grade dysplasia, more concerning if high grade dysplasia, villous component is of relevance
3) sessile serrated lesions/ adenomas
- any dysplasia is concerning, easily missed
Describe follow up screening of colonoscopy
1-2 adenomas –> 10 year
3-4 adenomas –> 5 years
5-9 adenomas –> 3 years
>10 adenomas- 1 year
What is the most common cause of acute diarrhoea illness?
(1) norovirus (2) non-STEC e.coli (3) campylobacter
