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AKT Prep > Gastroenterology + Genomic > Flashcards

Gastroenterology + Genomic Flashcards

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
Q

When considering ulcerative collitis what are the main risks of analgesia with:
a) NSAID
b) Opitate

A

a) GI effects as usual but also can reactivate quiescent IBD

b) Can cause constipation and toxic megacolon

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26
Q

Name 4 possible complications of UC?

A

Toxic megacolon
Bowel strictures, obstruction or perforation
Anaemia/ Malnutrition/ Growth failure
Osteoporosis (steroid use and malabsorption)
Colorectal ca
Negative psychosocial impact

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27
Q

Name 5 features that would raise suspicion of UC?

A

Blood diarrhoea for more than 6 weeks
Rectal bleeding
Faecal urgency/ incontinence
Nocturnal defecation
Abdominal pain
Tenesmus
Weight loss, fatigue, malaise, anorexia, fever

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28
Q

You suspect UC or Crohns. What are your first investigations?

A

Stool microscopy and culture (including c.diff)
Faecal calprotectin

FBC, inflammatory markers
U+E/ LFT’s/ TFT’s Ferritin/ B12/ Folate/ VitD/ Coeliac

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29
Q

What is the name of the UC disease severity assessment tool?

A

Truelove and Witt’s severity index

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30
Q

What are the Truelove and Witts criteria for mild UC?

A

Bowels: < 4/day
Blood: No more than small amount
No fever, HR < 90, no anemia
ESR < 30

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31
Q

What are the Truelove and Witts criteria for moderate UC?

A

Bowels: 4-6/day
Blood: Between mild/ severe
No fever, HR < 90, no anemia
ESR < 30

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32
Q

What are the Truelove and Witts criteria for severe UC?

A

Bowels: 6 or more/ day
Blood: Visible blood
Any fever (>37.8)
Tachycardia (>90)
Anaemia
ESR > 30

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33
Q

How should diarrhoea be managed in UC?

A

Seek specialist management as per all UC

Do not prescribe loperamide or similar as do not usually work and increase toxic-megacolon risk

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34
Q

How should constipation be managed in UC or Crohns?

A

Assess diet
If symptoms persist - bulk forming laxative (ispaghula husk, methylcellulose, sterculia)

Do not offer other types of laxatives
Otherwise specialist management

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35
Q

How should abdominal pain be managed in UC?

A

Paracetamol first line
Avoid NSAIDS (aggravate colitis symptoms)
-Can use buscapan or mebeverine

Be aware opiates may increase toxic megacolon risk

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36
Q

How may toxic megacolon present?

A

Life-threatening complication of UC

Non-obstructive dilatation of colon - escalating abdominal pain, systemic symptoms
Dilation of transverse colon on AXR

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37
Q

What should women with UC or Crohns be advised regarding fertility and contraception?

A

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

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38
Q

How do you manage a flare of UC or Crohns in primary care?

A

Severe features - Same day admission
Mild/ mod- Urgent referral or A+G
- Can consider oral steroids if part of a shared care agreement

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39
Q

Name 3 possible treatments for UC or Crohns initiated by secondary care?

A

Aminosalicylates - Mesalazine, sulfasalazine
- Topical (suppository or eneoma) then orally if remission not achieved

Steroids

Immunosuppressants - Tacrolimus, ciclosporin, azathioprine, methotrexate, biologics (infliximab)

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40
Q

Name 5 possible complications of Crohn’s disease?

A

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

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41
Q

Name 3 factors which convey a poor prognosis in Crohns?

A

Early age onset
Perianal disease
Severe symptoms/ steroid requirement at presentation
Hx surgical resection
Hx complicated disease (abscess, fistulizing)

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42
Q

How should diarrhoea be managed in Crohn’s?

A

Consider diet or alternatives

If persistent:
- Can consider loperamide for diarrhoea if persistent and as long as Crohn’s diagnosis not UC

43
Q

How should abdominal pain be managed in Crohn’s?

A

As per IBS (Mebeverine etc)
- Can use in Crohn’s but not in UC

44
Q

What features would raise suspicion of bile salt malabsorbption in crohn’s? What drug may secondary care initiate?

A

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
Q

Name 3 risk factors for Crohn’s disease?
- How do these risks change in UC?

A

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
Q

What are the 4 ways to classify anal fissues?

A

Acute < 6 wks
Chronic > 6 wks
Primary - no clear cause
Secondary - to constipation, IBD, cancer, STI etc

47
Q

Where do anal fissures usually occur, in what age group are they most common?

A

Posterior midline (10% anterior)

Usually 15-40
- Primary fissures in elderly unusual so look for underlying cause (constipation/ CRC)

48
Q

How should anal fissures be managed?

A

Paracetamol, ibuprofen, soaking in bath
Topical anaesthetic if severe defecation pain

If >1wk 6-8 week course of rectal GTN

49
Q

What are the NICE 2ww guidelines for oesophageal or stomach cancer?

A

Anyone with dysphagia

OR > 55yrs with weight loss +
upper abdo pain/ reflux/ dyspepsia

50
Q

What are the NICE 2ww guidelines for pancreatic cancer?

A

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
Q

What is gilberts syndrome and how does it present?

A

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
Q

What is crigler-Najjar syndrome and how does it present?

A

Rare inherited disorder leading to unconjugated hyperbilirubinemia

T1 - present in neonates and can be fatal
T2 - Less severe

53
Q

What is Primary Scleorising Cholangitis and how does it present?

A

Chronic progressive inflammation of bile ducts

More common in men and people with IBD
- Can lead to cholagniocarcinoma

54
Q

What antibody is associated with PSC?

A

Antinuclear antibody present in 30% of PSC

55
Q

Name 2 key ways to distinguish risk between PBC and PSC?

A

PBC- Middle aged women
- Fatigue and itch
- Antimitochondrial antibody

PSC - Men, usually with IBD
- Fibrosis and strictures
- 30% have antinuclear antibody

56
Q

Name 5 presenting symptoms of hepatitis (of any cause)?

A

Jaundice
Anorexia
Flu like symptoms

Less acute: Fatigue, malaise, anorexia and weight loss
- Acute liver failure, amenorrhoea and joint pains can occur

57
Q

What investigation results may suggest an autoimmune hepatitis?

A

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
Q

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

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
Q

For h.pylori eradication - what is 1st line eradication therapy?
a) Non pen allergic
b) Pen allergic

A

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
Q

What is second line h.ylori eradication therapy in:
a) Non pen allergic
b) Pen allergic

A

7 days
a) Omeprazole + amox + whichever wasn’t used of clari/ metro
- If had either previously use levofloxacin

b) Omeprazole + levofloxacin + metronidazole

61
Q

Name 5 indication for peforming a FIT in the context of NICE lower GI 2ww guidelines?

A

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
Q

What is the FIT cut off if symptomatic for 2ww criteria for 2ww referral?

A

10mcg/g of Hb

63
Q

What are the two most common causes of UGIB?

A

Varicies
Erosions

Also osophagitis, PUD etc

64
Q

What scoring system is used to predict severity in UGIB? Name 3 examples of patients who should always be admitted?

A

Rockall score

Age > 60
Witnessed bleeding
BP <100 systolic
HR > 100bpm
Liver disease or varicies known
Other significant comorbidities

65
Q

What is the classic presentation of:
a) Achalasia
b) Globus hystericus
c) Pharngeal pouch
d) Oesophageal spasm

A

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
Q

What is Zenker’s diverticulum?

A

Alternative name for pharngeal pouch

67
Q

How does acute pancreatitis classically present? (include 5x RF’s)

A

Acute sudden upper or generalised abdo pain
N+V

RF’s: Alcohol, gallstones, endoscopy, trauma, surgery, drugs, triglycerides/ calcium, autoimmune, cancer

68
Q

Which cells in the pancreas result in:
a) Endocrine insufficency
b) Exocrine insufficiency

A

a) Islets of langerhans
b) Acinar cells

69
Q

How may chronic pancreatitis present?

A

Chronic intermittent abdo pain
Malabsorbtion (steatorrhoea, diarrhoea, bloating, cramps, weight loss)
New diabetes
SIgns co-existing liver disease

70
Q

Name 5 complications of chronic pancreatitis?

A

Maldigestion/ malabsorbtion/ malnutrition
Pancreatogenic diabetes
Chronic pain
Osteoporosis/ penia
Pancreatic ca
Stones/ strictures/ fistulae/ pseudoaneurysm

71
Q

What is the UK bowel cancer screening programme?

A

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
Q

Name 4 classes of medicines which can cause/ worsen dyspepsia?

A

NSAIDs, calcium antagonists, nitrates, theophyllines, bisphosphonates and steroids

73
Q

What is the classic electolyte picture of a patient with refeeding syndrome?

A

Everything low:
hypophosphatemia, hypomagnesaemia, hypokalaemia
thiamine deficiency

Salt and water retention
(So hypernatraemia)

74
Q

What is the SINGLE MOST likely presentation of acute hepatitis C (HCV) infection?

A

Asymptomatic

(Why screening is so important)

75
Q

Howell–Jolly bodies on blood film suggest what?

A

Hyposplenism or absent spleen

76
Q

How do you define dominant or recessive mutations?

A

Change in 1 gene causes health problems - Dominant

Need both genes to be affected for symptoms - Recessive

77
Q

How is Autosomal Dominant inheritance characterised? How is this noted?

A

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
Q

Name 5 common autosomal dominant genetic conditions?

A

Marfans
Huntingtons
Retinoblastoma
Familial hypercholesterolaemia
AD Polycystic kidneys
Thrombophillia’s
Familial adenomatous polyposis

79
Q

Name 5 common autosomal recessive genetic conditions?

A

Cystic fibrosis
Herediatary haemochromotosis
Haemoglobinopathies (sickle cell, thalasemmia)

80
Q

How is X-lined genetic inheritance characteristed? Are they usually dominant or recessive?

A

Only passed on X chromosome
- Usually recessive

NO male to male (as men only pass X choromosome to daughters and Y to sons)

81
Q

How is autosomal recessive inheritance noted and how is it characterised?

A

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
Q

Name 3 conditions which show an X-linked recessive genetic pattern?

A

Fragile X syndrome
Duchenne muscular dystrophy
Becker muscular dystrophy
Haemophillia
Red-green colour blindness

83
Q

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

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
Q

What are the 3 X-linked dominant conditions?

A

VitD resistant rickets
Rett syndrome
Alport syndrome

85
Q

What is the chromosomal pattern seen in?
a) Down’s
b) Turners syndrome
c) Klienfelters syndrome

A

a) Trisomy 21
b) XO
c) XXY (boys with extra X)

86
Q

How is CF diagnosed in newborns?

A

Neonatal blood spot IRT test identifies if at risk - not diagnostic

Need positive sweat test +/- mutation analysis of CFTR gene

87
Q

Which gene has been shown to increased the risk of alzeihmers disease?

A

ApoE4

88
Q

Which gene’s are associated with:
a) Breast cancer
b) Polyps/ bowel cancer

A

a) BRCA
b) APC

89
Q

Mutations in which gene are associated with haemochromotosis?

A

HFE

90
Q

What are the common associations with turners syndrome? Name 4

A

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
Q

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

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
Q

How is a mitochondrial pattern of inheritance characterised?

A

Female only transmission (female to all of her children, male to none)
- Both male and female offspring equally affected

93
Q

How does FAP usually present and how is it inherited?

A

APC gene - autosomal dominant

Polyps appear within teens and 20’s -over 100 or so polyps

94
Q

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

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
Q

BRCA2 in men is associated with what cancers?
(BRCA1 also but less strongly)

Name 4

A

Breast
Pancreatic
Melanoma
Prostate

96
Q

How is alpha-1-antitrypsin deficiency inherited?

A

Autosomal co-dominant
(Two versions of gene can be expressed and both contribute to genetic trait)

97
Q

What are the chromosomal abnormalities of:
a) Patau syndrome
b) Edwards syndrome

A

a) Trisomy 13
b) Trisomy 18
(most die before or after birth)

98
Q

What screening is done for down’s syndrome?
- When is it offered?

A

Offered 10-14 weeks
Combined test
- Bloods + USS
- Also looks at Edwards/ Patau

Offered 14-20 weeks
Quadruple test
- Not as accurate

99
Q

What is considered a high probability result in down’s syndrome screening and what are the options?

A

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
Q

What are the indications for referral to secondary care if concerns about famility history of breast cancer?

A
  • 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
Q

What is the definition of:
a) First degree relative
b) Second degree relative

A

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
Q

Most likely vitamin deficiency with coeliac disease?

A

Vit D deficiency

103
Q

What’s the single biggest risk factor for h.pylori infection?

A

Gastric cancer

AKT Prep (22 decks)

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