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Gastroenterology + Genomic Flashcards

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1
Q

What is the first line test for coeliac disease?

A

IgA tissue transglutaminase (IgA tTGA)

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2
Q

What are the characteristic features of:
a) Staphylococcal food poisioning
b) Campylobactor food poisoning
c) Scombrotoxin food poisioning

A

a) N+V 2-6 hours after ingestion, recovery 6-24 hrs
b) Mainly abdo pain and diarrhoea, 2-5 days post ingestion - Chicken or Milk
c) N+V 1-3 hours after eating fish, recovery in a few hours - also flushing and headache

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3
Q

What specific IBS food/ dietary advice would you give to a patient with:
a) Diarrhoea
b) Wind and bloating

A

a) Avoid sorbitol (sweetner)
b) Oats and linseeds may help wind and bloating

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4
Q

What is the general diet advice given to patients with IBS (name 3 things) regarding drinks and liquids

A

Lots of fluid and non caffeine drinks (herbal tea or water) - at least 8 cups a day

Restrict tea/ coffee to 3 cups per day
Reduce intake of alcohol and fizzy drinks

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5
Q

What is the general diet advice given to patients with IBS (name 3 things)?

A

Regular meals, avoid long gaps

Limit high fibre food (wholemeal, cereals, brown rice)
Reduce resistant starch (processed or recooked foods)

Limit fresh fruit to 3 per day

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6
Q

What is the IBS advice regarding:
a) Probiotics
b) FODMAP

A

a) If choose probiotics, encourage take 12 weeks and discontinue if don’t help

b) FODMAP if persistent symptoms despite general advice

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7
Q

In IBS:
a) First line pharmacological therapy
b) Managing constipation 1st line
c) Managing diarrhoea 1st line
d) 2nd line for abdominal pain

A

a) Anti-spasmodics (buscapan)
b) Laxitives - NOT lactulose
c) Loperamide
d) Tricyclic antidepressant (low dose 5-10mg amitrytyline)

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8
Q

What is the role in IBS for:
a) SSRI’s
b) Reflexology
c) Acupuncture

A

a) Only when TCA’s (2nd line) are ineffective
- Note off licience

b + c) Not recommended

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9
Q

When should pyschological interventions be considered in IBS?

A

CBT or hypnotherapy if:
- No response to pharmacological tx within 12 months
AND
Ongoing symptoms

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10
Q

What malignancy’s are most associated with coeliac disease?

A

Lymphoma (both HL and NHL)

Small bowel adenocarinoma also linked

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11
Q

A 35-year-old woman has symptoms strongly suggestive of coeliac disease. An immunoglobulin A (IgA) tissue transglutaminase is negative.

Which is the SINGLE MOST appropriate NEXT investigation?

A

Total Serum IgA

If shown to have IgA deficiency then do:
- IgG tTGA and/ or IgG EMA (endomysial antibiodies)

Note still refer to gastro if coeliac is clinically suspected

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12
Q

What is the criteria for a diagnosis of IBS?

A

Abdominal pain

ONE of:
- Relieved by defecation OR - Altered frequency OR
- Altered stool form (hard, watery etc)

PLUS two or more of:
- Altered stool passage (strain, urgency, incomplete evacuation)
- Abdominal bloating
- Symptoms worse on eating
- Passage of mucus

For at least 6 months

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13
Q

You suspect IBS, what investigations do you do to exclude alternative diagnosis?

A
  • FBC
  • CRP/ ESR
  • Coeliac serology
  • Faecal calprotectin
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14
Q

In IBS when should referral to gastro clinic be done?

A
  • Diagnostic uncertainty.
  • Symptoms are atypical, severe or refractory to optimal management in primary care.
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15
Q

What laxatives should not be used in IBS?

A

Lactulose (increases gas production)

Can use any others first line

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16
Q

When should second line treatment for constipation in IBS be considered?

A

2nd Line: Linaclotide
- Only if max tolerated dose of previous not helped
- Constipation going for at least 12 months

Often initiated in secondary care

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17
Q

Name 3 antispadmodic drugs which can be used in IBS?

A

Mebeverine (135-150mg TDS) 20mins before meals

Peppermint oil (1-2 capsules TDS for upto 3 months)

Alverine cirate (60-120mg TDS)

All 1st line antispasmodics and direct smooth muscle relaxants - tend to cause less side effects than antimuscarinics like buscapan

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18
Q

Parastomal hernias
a) Name 2 risk factors
b) Management

A

Common - 35% at 2 years

a) Chronic cough, increased intra-abdo pressure

b) Most conservative with abdominal supports

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19
Q

Anti-mitochondrial antibodies are linked with what pathology?

A

Highly sensitive and specific marker of Primary Biliary Cirrhosis

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20
Q

How does primary biliary cirrhosis classically present?

A

Progressive liver disorder
- Middle aged women
- Fatigue and itch
- Jaundice develops as progresses
- 95% have positive anti mitochondrial antibody

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21
Q

You see a 24-year-old patient with jaundice and mild right upper quadrant pain. She has just come back from holiday where she admits to having a lot of street food. She is hepatitis A vaccinated.

What is the SINGLE MOST likely diagnosis?

A

Hepatitis E

Hepatitis A+E are both faecal oral route

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22
Q

A 37-year-old patient with known inflammatory bowel disease and a stoma in-situ presents with a peristomal skin rash. On examination, he has inflamed and painful ulcers around the stoma site with purple edges.

What is the SINGLE MOST likely diagnosis

A

Pyoderma gangrenosum
- Associated with IBD or cancer
- Causes large painful sores on the skin
- Refer to stoma nurses (steroids or topical tacrolimus)

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23
Q

From an anatomical point of view, how do you distinguish between inguinal and femoral hernias?

A

Inguinal - Above and medial to pubic tubercle

Femoral - Lateral and below pubic tubercle

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24
Q

You examine a A 43-year-old woman with a soft, reducible swelling below and lateral to the pubic tubercle in the right groin.

How do you manage?

A

Femoral hernias are higher risk (lateral nad below pubic tubercle)

Women presenting with groin hernias should always be referred for urgent (2ww) review due to high risk of femoral hernia in this group

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25
When considering ulcerative collitis what are the main risks of analgesia with: a) NSAID b) Opitate
a) GI effects as usual but also can reactivate quiescent IBD b) Can cause constipation and toxic megacolon
26
Name 4 possible complications of UC?
Toxic megacolon Bowel strictures, obstruction or perforation Anaemia/ Malnutrition/ Growth failure Osteoporosis (steroid use and malabsorption) Colorectal ca Negative psychosocial impact
27
Name 5 features that would raise suspicion of UC?
Blood diarrhoea for more than 6 weeks Rectal bleeding Faecal urgency/ incontinence Nocturnal defecation Abdominal pain Tenesmus Weight loss, fatigue, malaise, anorexia, fever
28
You suspect UC or Crohns. What are your first investigations?
Stool microscopy and culture (including c.diff) Faecal calprotectin FBC, inflammatory markers U+E/ LFT's/ TFT's Ferritin/ B12/ Folate/ VitD/ Coeliac
29
What is the name of the UC disease severity assessment tool?
Truelove and Witt's severity index
30
What are the Truelove and Witts criteria for mild UC?
Bowels: < 4/day Blood: No more than small amount No fever, HR < 90, no anemia ESR < 30
31
What are the Truelove and Witts criteria for moderate UC?
Bowels: 4-6/day Blood: Between mild/ severe No fever, HR < 90, no anemia ESR < 30
32
What are the Truelove and Witts criteria for severe UC?
Bowels: 6 or more/ day Blood: Visible blood Any fever (>37.8) Tachycardia (>90) Anaemia ESR > 30
33
How should diarrhoea be managed in UC?
Seek specialist management as per all UC Do not prescribe loperamide or similar as do not usually work and increase toxic-megacolon risk
34
How should constipation be managed in UC or Crohns?
Assess diet If symptoms persist - bulk forming laxative (ispaghula husk, methylcellulose, sterculia) Do not offer other types of laxatives Otherwise specialist management
35
How should abdominal pain be managed in UC?
Paracetamol first line Avoid NSAIDS (aggravate colitis symptoms) -Can use buscapan or mebeverine Be aware opiates may increase toxic megacolon risk
36
How may toxic megacolon present?
Life-threatening complication of UC Non-obstructive dilatation of colon - escalating abdominal pain, systemic symptoms Dilation of transverse colon on AXR
37
What should women with UC or Crohns be advised regarding fertility and contraception?
Oral contraceptives may be less effective due to malabsorption Need contraception for at least 3 months after methotrexate (men and women), 6 months after infliximab or adalimumab
38
How do you manage a flare of UC or Crohns in primary care?
Severe features - Same day admission Mild/ mod- Urgent referral or A+G - Can consider oral steroids if part of a shared care agreement
39
Name 3 possible treatments for UC or Crohns initiated by secondary care?
Aminosalicylates - Mesalazine, sulfasalazine - Topical (suppository or eneoma) then orally if remission not achieved Steroids Immunosuppressants - Tacrolimus, ciclosporin, azathioprine, methotrexate, biologics (infliximab)
40
Name 5 possible complications of Crohn's disease?
Strictures/ obstruction/ fistula's/ perforation Perianal disease (fissures, fistula, abscess) Anaemia, malnutrition Cancer (Small and large bowel) Arthritis, erythema nodosum, pyoderma gangrenosum, psoriasis Episcleritis, uveitis, osteoporosis Primary sclerosiing cholangitis, steatosis, autoimmune hepatitis, gallstones
41
Name 3 factors which convey a poor prognosis in Crohns?
Early age onset Perianal disease Severe symptoms/ steroid requirement at presentation Hx surgical resection Hx complicated disease (abscess, fistulizing)
42
How should diarrhoea be managed in Crohn's?
Consider diet or alternatives If persistent: - Can consider loperamide for diarrhoea if persistent and as long as Crohn's diagnosis not UC
43
How should abdominal pain be managed in Crohn's?
As per IBS (Mebeverine etc) - Can use in Crohn's but not in UC
44
What features would raise suspicion of bile salt malabsorbption in crohn's? What drug may secondary care initiate?
Watery diarrhoea accompanied by abdominal bloating and steatorrhea (suggested by pale, floating stool), particularly if the person has extensive ileal disease or a history of distal ileal resection A bile acid sequestrant (such as colestyramine) may be used
45
Name 3 risk factors for Crohn's disease? - How do these risks change in UC?
FHx (25-40%) Smoking Gastroenteritis (most for 1st year after episode) Appendiectomy (for 5 yrs post -op) NSAIDS - May increase relapse or exacerbation risk In UC - appendicectomy and smoking are actually protective
46
What are the 4 ways to classify anal fissues?
Acute < 6 wks Chronic > 6 wks Primary - no clear cause Secondary - to constipation, IBD, cancer, STI etc
47
Where do anal fissures usually occur, in what age group are they most common?
Posterior midline (10% anterior) Usually 15-40 - Primary fissures in elderly unusual so look for underlying cause (constipation/ CRC)
48
How should anal fissures be managed?
Paracetamol, ibuprofen, soaking in bath Topical anaesthetic if severe defecation pain If >1wk 6-8 week course of rectal GTN
49
What are the NICE 2ww guidelines for oesophageal or stomach cancer?
Anyone with dysphagia OR > 55yrs with weight loss + upper abdo pain/ reflux/ dyspepsia
50
What are the NICE 2ww guidelines for pancreatic cancer?
Over 40 with jaundice Urgent direct CT if over 60 with weight loss and any of (diarrhoea, back/ abdo pain, N+V, constipation, new diabetes)
51
What is gilberts syndrome and how does it present?
Inherited metabolic disorder - excess UNCONJUGATED bilirubin 3% prevalence, usually incidental raised bili with normal LFT's otherwise - Bili can rise during stress/ dehydration, fasting etc
52
What is crigler-Najjar syndrome and how does it present?
Rare inherited disorder leading to unconjugated hyperbilirubinemia T1 - present in neonates and can be fatal T2 - Less severe
53
What is Primary Scleorising Cholangitis and how does it present?
Chronic progressive inflammation of bile ducts More common in men and people with IBD - Can lead to cholagniocarcinoma
54
What antibody is associated with PSC?
Antinuclear antibody present in 30% of PSC
55
Name 2 key ways to distinguish risk between PBC and PSC?
PBC- Middle aged women - Fatigue and itch - Antimitochondrial antibody PSC - Men, usually with IBD - Fibrosis and strictures - 30% have antinuclear antibody
56
Name 5 presenting symptoms of hepatitis (of any cause)?
Jaundice Anorexia Flu like symptoms Less acute: Fatigue, malaise, anorexia and weight loss - Acute liver failure, amenorrhoea and joint pains can occur
57
What investigation results may suggest an autoimmune hepatitis?
AST/ ALT raised with normal ALP (for all hepatic causes) 70% AIH have +ve antismooth muscle 60% have +ve ANCA (Viral hepatitis screen negative)
58
Regarding h.pylori: a) Rules for PPI/ ABx stopping before testing? b) What test for eradication therapy? c) Interval before can retest for eradication (not usually indicated)
a) Stop PPI 2 weeks before and ABx 4 weeks before b) Urea 1st line but often unavailable so stool antigen c) Wait at least 4, ideally 8 weeks after before retesting
59
For h.pylori eradication - what is 1st line eradication therapy? a) Non pen allergic b) Pen allergic
7days a) Omeprazole 20mg BD + Amoxicillin 1g BD + Clarith 500mg BD/ metronidazole 400mg BD b) Omeprazole 20mg BD + Clarithro 500mg BD + metronidazole 400mg BD
60
What is second line h.ylori eradication therapy in: a) Non pen allergic b) Pen allergic
7 days a) Omeprazole + amox + whichever wasn't used of clari/ metro - If had either previously use levofloxacin b) Omeprazole + levofloxacin + metronidazole
61
Name 5 indication for peforming a FIT in the context of NICE lower GI 2ww guidelines?
Abdominal mass Change in bowel habit IDA Over 40 with weight loss + abdo pain Over 50 with unexplained rectal bleed/ abdo pain/ weight loss Over 60 with any anaemia (even if no IDA) Over
62
What is the FIT cut off if symptomatic for 2ww criteria for 2ww referral?
10mcg/g of Hb
63
What are the two most common causes of UGIB?
Varicies Erosions Also osophagitis, PUD etc
64
What scoring system is used to predict severity in UGIB? Name 3 examples of patients who should always be admitted?
Rockall score Age > 60 Witnessed bleeding BP <100 systolic HR > 100bpm Liver disease or varicies known Other significant comorbidities
65
What is the classic presentation of: a) Achalasia b) Globus hystericus c) Pharngeal pouch d) Oesophageal spasm
a) Regurgitation, chest pain b) Intermittent sensation of lump, front of neck, not affected eat and drink c) Regurgitation, aspiration, may have gurgling and hallitosis d) Chest pain and reflux - Intermittent symptoms
66
What is Zenker's diverticulum?
Alternative name for pharngeal pouch
67
How does acute pancreatitis classically present? (include 5x RF's)
Acute sudden upper or generalised abdo pain N+V RF's: Alcohol, gallstones, endoscopy, trauma, surgery, drugs, triglycerides/ calcium, autoimmune, cancer
68
Which cells in the pancreas result in: a) Endocrine insufficency b) Exocrine insufficiency
a) Islets of langerhans b) Acinar cells
69
How may chronic pancreatitis present?
Chronic intermittent abdo pain Malabsorbtion (steatorrhoea, diarrhoea, bloating, cramps, weight loss) New diabetes SIgns co-existing liver disease
70
Name 5 complications of chronic pancreatitis?
Maldigestion/ malabsorbtion/ malnutrition Pancreatogenic diabetes Chronic pain Osteoporosis/ penia Pancreatic ca Stones/ strictures/ fistulae/ pseudoaneurysm
71
What is the UK bowel cancer screening programme?
60-74yrs (being expanded to 50-74yrs by 2025) Sent every 2 years - Can still phone free helpline and ask for kit every 2 years if over 75 Home test FIT
72
Name 4 classes of medicines which can cause/ worsen dyspepsia?
NSAIDs, calcium antagonists, nitrates, theophyllines, bisphosphonates and steroids
73
What is the classic electolyte picture of a patient with refeeding syndrome?
Everything low: hypophosphatemia, hypomagnesaemia, hypokalaemia thiamine deficiency Salt and water retention (So hypernatraemia)
74
What is the SINGLE MOST likely presentation of acute hepatitis C (HCV) infection?
Asymptomatic (Why screening is so important)
75
Howell–Jolly bodies on blood film suggest what?
Hyposplenism or absent spleen
76
How do you define dominant or recessive mutations?
Change in 1 gene causes health problems - Dominant Need both genes to be affected for symptoms - Recessive
77
How is Autosomal Dominant inheritance characterised? How is this noted?
One copy of gene needs to be affected D is abnormal, d is normal So Dd would be affected If DD (homozygous) may be more severely inherited 50% chance will be affected - Can't be carrier and not affected
78
Name 5 common autosomal dominant genetic conditions?
Marfans Huntingtons Retinoblastoma Familial hypercholesterolaemia AD Polycystic kidneys Thrombophillia's Familial adenomatous polyposis
79
Name 5 common autosomal recessive genetic conditions?
Cystic fibrosis Herediatary haemochromotosis Haemoglobinopathies (sickle cell, thalasemmia)
80
How is X-lined genetic inheritance characteristed? Are they usually dominant or recessive?
Only passed on X chromosome - Usually recessive NO male to male (as men only pass X choromosome to daughters and Y to sons)
81
How is autosomal recessive inheritance noted and how is it characterised?
rr = Two faulty genes RR = Two normal genes Need both copies to be affected (so if 1 parent affected) 25% affected or normal 50% carrier
82
Name 3 conditions which show an X-linked recessive genetic pattern?
Fragile X syndrome Duchenne muscular dystrophy Becker muscular dystrophy Haemophillia Red-green colour blindness
83
A father has an x-linked recessive condition, what is the chance of a child: a) Being a carrier b) Being affected c) Being unaffected
a) 50% chance of children being female so getting X chromosome from father and therefore being carrier b) 0% (as long as mother not a carrier) c)) 50% chance of getting Y from father so unaffected
84
What are the 3 X-linked dominant conditions?
VitD resistant rickets Rett syndrome Alport syndrome
85
What is the chromosomal pattern seen in? a) Down's b) Turners syndrome c) Klienfelters syndrome
a) Trisomy 21 b) XO c) XXY (boys with extra X)
86
How is CF diagnosed in newborns?
Neonatal blood spot IRT test identifies if at risk - not diagnostic Need positive sweat test +/- mutation analysis of CFTR gene
87
Which gene has been shown to increased the risk of alzeihmers disease?
ApoE4
88
Which gene's are associated with: a) Breast cancer b) Polyps/ bowel cancer
a) BRCA b) APC
89
Mutations in which gene are associated with haemochromotosis?
HFE
90
What are the common associations with turners syndrome? Name 4
Slow growth, low ears, webbed neck Primary amenorrhoea/ infertility/ early osteoporosis (all low oestrogen) Congenital heart defects, t1/t2dm, HTN, thyroid and autoimmune conditions
91
On a family pedigree chart what is meant by: a) Square and circles b) Black (filled) and white (clear) shapes c) A line through the shape d) Two offspring coming from the same point on a line making a triangle e) d but also with a horizontal line making the triangle
a) Males are squares, women are circles b) Black is affected, clear is unaffected c) Line means deceased d) Fraternal twins e) Identical twins
92
How is a mitochondrial pattern of inheritance characterised?
Female only transmission (female to all of her children, male to none) - Both male and female offspring equally affected
93
How does FAP usually present and how is it inherited?
APC gene - autosomal dominant Polyps appear within teens and 20's -over 100 or so polyps
94
Regarding the principles of consent for testing with possible huntingtons disease - what is the general rule for testing: a) Adults b) Children c) Unborn babies
a) Consent based on individual b) Generally if condition has no early intervention (like huntingtons) children shouldn't be tested (will remove their autonomy to choose later in life) - parents can't overrule this as not theraputic intervention c) Fetus considered part of mother so mothers choice - regardless of fathers wishes
95
BRCA2 in men is associated with what cancers? (BRCA1 also but less strongly) Name 4
Breast Pancreatic Melanoma Prostate
96
How is alpha-1-antitrypsin deficiency inherited?
Autosomal co-dominant (Two versions of gene can be expressed and both contribute to genetic trait)
97
What are the chromosomal abnormalities of: a) Patau syndrome b) Edwards syndrome
a) Trisomy 13 b) Trisomy 18 (most die before or after birth)
98
What screening is done for down's syndrome? - When is it offered?
Offered 10-14 weeks Combined test - Bloods + USS - Also looks at Edwards/ Patau Offered 14-20 weeks Quadruple test - Not as accurate
99
What is considered a high probability result in down's syndrome screening and what are the options?
Anything upto 1 in 150 is high probability Can then do NIPT if wanted (non invasive screening) to get higher accuracy on screening and decided if wanting: - Amniocentesis or CVS
100
What are the indications for referral to secondary care if concerns about famility history of breast cancer?
- First degree relative under 40 - Male relative any age - Two first degree or one first and one second degree relative (breast or ovarian) - Seek genetic advice if bilateral breast ca/ ovarian Ca, Jewish ancestory, uncertainty or person not sufficiently reassured
101
What is the definition of: a) First degree relative b) Second degree relative
a) Parent, sibling, child b) Anyone who shares 25% of genes (so one other person between them) - Aunt, half-sibling, grandparent, nephew, niece, grandchild
102
Most likely vitamin deficiency with coeliac disease?
Vit D deficiency
103
What's the single biggest risk factor for h.pylori infection?
Gastric cancer

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