Gastrointestinal medicine Flashcards

1
Q

Highly specific Antibody tested for in:
- Primary biliary cirrhosis

Common 2 presenting complaints

State the first-line treatment

A

PBC = AMA

2 common presenting complaints - marked pruritus + fatigue

first-line rx = URSODEOXYCHOLIC ACID

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2
Q

What is the most sensitive SLE diagnostic test? most specific?

A

Most sensitive = ANA

Most specific = anti-dsDNA

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3
Q

List 6 clinical signs associated with alcoholic chronic liver disease

A
	Dupuytren’s contracture
      Fine resting tremor
      Proximal myopathy
	Parotid enlargement bilateral 
	Peripheral neuropathy (alcohol + some drugs)
	Cerebellar signs 
	Liver enlargement
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4
Q

General Wilsons triad

Triad of Wilson’s disease movement disorders

A

General = movement disorder, liver, kayser-fleischer

Tremor
Ataxia
Dystonia

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5
Q

Metabolic syndrome diagnosis criteria

A

3 or more of:

Fasting triglycerides ≥1.7
HDL <1 in men, <1.3 F
Waist circumference - depends on age + ethnicity
BP >130 and/or >85
High fasting blood glucose 5.6-6.9
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6
Q

Meaning of dark urine, pale stool

A

Cholestasis - no bilirubin entering poo, not entering intestines to start with. Dark urine = reflux of conjugated bili –> bloodstream, where it is secreted in urine.

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7
Q

What are the three antibodies we test for in autoimmune hepatitis? Which is most specific?
State one other test found in bloods that points to the autoimmune nature + relate to pathology

A

ANA, ANCA + SMA (anti-smooth muscle Ab)
- SMA most specific

Other one = hyper IgG (aemia) - plasma cell infiltration portal area –> secreting IgG like a bitch

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8
Q

What are signs of complicated GORD?

A

Dysphagia, odynophagia, weight loss, anaemia

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9
Q

What is dyspepsia? Give TCP

A
Dyspepsia = indigestion
TCP = dull/burning epigastric pain, episodic, pain at night + wakes pt from sleep. Relieved by antacids/ taking food. Characterised by postprandial heaviness + early satiety.
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10
Q

IN which populations is screening recommended for H pylori?

A

Those with family hx of:

  • Malt-lymphoma
  • Gastric cancer

Those about to begin short-term or long-term NSAID Rx - eradication is useful

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11
Q

TCP oesophageal cancer, including PMHx

A

60-70yo M presents with retrosternal discomfort postprandial, progressive dysphagia (solids –> now liquids) and weight loss, drenching night sweats. Has a PMHx of heartburn.

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12
Q

GORD TCP

4 important history questions to ask

A

Pt presents with burning epigastric pain postprandial, exacerbating by spicy foods, lying down. Alleviated by antacids. Non-exertional. Has been experiencing belching + regurgitation a lot recently.
Key = heart burn + regurgitation

  1. Dysphagia?
  2. Odynophagia?
    3 B symptoms - cancer
  3. Cough at night? microaspiration in GORD
  4. Hoarseness of voice?
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13
Q

TCP Zollinger-ellison syndrome

A

30-50yo M (2:1) presents with epigastric pain, steatorrhoea and weight loss, and dyspeptic symptoms. He is also experiencing black tarry stools (melaena). He has a family hx of multiple endocrine neoplasia.

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14
Q

4 key features of scleroderma (systemic sclerosis)

A

thickening + hardening of skin, mask-like face, Raynaud phenomenon present in 95%, sclerodactyly

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15
Q

What are the “triples” and what do they refer to? When are they given?

A

The antibiotics that cover gram negs, gram pos + anaerobes - given before appendectomy procedure to cover.

  1. Ampicillin
  2. Metronidazole
  3. Gentamicin
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16
Q

TCP acute cholecystitis

A

40yo Caucasian F presents with 9hours of constant 8/10 RUQ pain which radiates to her R) shoulder, with jaundice, a low-grade fever.

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17
Q

TCP acute cholecystitis with empyema

A

48yo obese woman has had recurrent attacks of severe upper right abdominal pain + vomiting for 3 years. Cholecystectomy performed following severe pain, fever and chills for 7 days.
The fever + chills indicate empyema.

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18
Q

What is the hereditary gene implicated in hereditary cholelithiasis formation?

A

ABCG8 gene mutation (a sterol transporter) –> excess cholesterol within the bile.

19
Q

Chronic presentation of multiple gall stones

A

Fatty food intolerance
Steatorrhea
Flatulence
Pale stool

20
Q

TCP pure cholesterol stone

A

28yo Caucasian F with extensive atherosclerosis + aortic aneurysm. No obesity, but markedly increased serum cholesterol. The pt has a FHx of familial hypercholesterolaemia, or congenital hypercholesterolaemia.

21
Q

What is Courvoisier’s sign? What disease is it a feature of? TCP for this disease

A

Courvoisier’s sign = painless jaundice and palpable non-tender gallbladder, present in GB adenocarcinoma
TCP for LATE STAGE GB adenoca: 50-70yo hispanic F presents with RUQ pain, weight loss, anorexia, some nausea and fatigue. O/E there is a palpable non-tender mass in RUQ + painless jaundice.

22
Q

What are the tumour marker used in cholangiocarcinoma + GB adenocarcinoma diagnosis?
What investigation is recommended for definitive diagnosis?

A

AFP, CA19-9, CEA

MRCP

23
Q

TCP acute pancreatitis

A

28yo chronic obese alcoholic M presents with sudden (or gradual) onset of severe 9/10 epigastric pain, radiating to back, associated with vomiting ++++ and nausea. Sitting up and leaning forward relieves.

24
Q

What is the rash of chronic pancreatitis? Describe it.

A

Erythema ab igne - mottled “reticulated” dusky grey - caused by chronic heat pack application on back to relieve pain

25
Q

What are the mainstay laboratory investigations used to diagnose chronic pancreatitis?

A

Pancreatic function tests
Indirect test
o Faecal elastase-1 activity – when it is reduced, confirms steatorrhea is due to exocrine pancreatic insufficiency

Direct test (directly measure amount of pancreatic enzymes being produced)
o	Cholecystokinin, secretin test
26
Q

What are the major mutations implicated in pancreatic adenocarcinoma formation?

A

KRAS
CDKN2A = 95% of cases. Is a TSG.
MSH/MLH (link to hereditary colon cancer)
P53 - implicated in BM invasion

27
Q

TCP pancreatic cancer

A

66yo M presents with painless jaundice, depression, recent extreme weight loss and recent diagnosis of diabetes mellitus. O/E courvoisiers sign positive, multiple scratch marks on upper body (pruritus) and troussea’s sign of malignancy.

28
Q

Tumour markers pancreatic cancer

A

CEA, CA19-9. Possible raise in lipase.

29
Q

Cystic fibrosis TCP

A

13yo with chronic sinusitis and obstructive pulmonary disease, GI distension, nutritional deficiency syndromes, salt loss, obstructive azoospermia AND genetic evidence

30
Q

Diagnostic testing for coeliac

A

 Anti-tTg (tissue transglutaminase) Ab – sensitive + specific test
 IgA anti-endomysial and anti-gliadin IgA Ab tests
 Total IgA to detect IgA deficiency

31
Q

TCP/story to remember of Whipple’s disease

A

Caucasian farmer, Mr. Whipple, presents with diarrhoea, migratory polyarthritis, lymphadenopathy and signs of malabsorption.

32
Q

Genetic susceptibility genes in

  • Ulcerative colitis
  • Crohns
A
UC = HLADR1
Crohns = HLADR7
33
Q

Aetiology of hamartomas in bowel?

A

Mutations in tumour suppressor genes in children

34
Q

Exact mutation in Cowden’s syndrome? What kind of gene is it?

A

PTEN - TSG

35
Q

Exact mutation in Peutz-Jegher syndrome?

What kind of gene is it?

A

STK11 - TSG

36
Q

Genetic susceptibility gene in Whipple disease

A

Genetic susceptibility gene HLA-DRB1 (whibble)

37
Q

Genetic susceptibility genes in Coeliac

A

HLADQ2 or HLADQ8

Ceoliaqqqq

38
Q

What is the order of presentation, in terms of age, between the hereditary + sporadic colorectal ca?

A

FAP - HNPCC - sporadic

39
Q

Most common cause of hereditary colorectal ca?

A

HNPCC/Lynch syndrome

40
Q

Mutation in FAP? Mode of inheritance?

A

APC/beta-catenin autosomal dominant

41
Q

Mutation in HNPCC? What kind of genes are they? Patho (brief?)

A

MLH1 + MSH2 - dna mismatch repair genes

Born with one hit, develop the second

42
Q

Retroperitoneal organs mnemonic?

A
SADPUCKER
Suprarenal glands
Aorta + IVC
Duodenum 2nd + 3rd part
Pancreas - except tail
Ureters
Colon - ascending + descending
Kidney
Esophagus
Rectum
43
Q

4 differential diagnoses for infantile/neonatal jaundice

A

Criggler Najjar
Gilbert syndrome
Biliary atresia
Polycystic kidney disease autosomal recessive!