Gastrointestinal medicine Flashcards
Highly specific Antibody tested for in:
- Primary biliary cirrhosis
Common 2 presenting complaints
State the first-line treatment
PBC = AMA
2 common presenting complaints - marked pruritus + fatigue
first-line rx = URSODEOXYCHOLIC ACID
What is the most sensitive SLE diagnostic test? most specific?
Most sensitive = ANA
Most specific = anti-dsDNA
List 6 clinical signs associated with alcoholic chronic liver disease
Dupuytren’s contracture Fine resting tremor Proximal myopathy Parotid enlargement bilateral Peripheral neuropathy (alcohol + some drugs) Cerebellar signs Liver enlargement
General Wilsons triad
Triad of Wilson’s disease movement disorders
General = movement disorder, liver, kayser-fleischer
Tremor
Ataxia
Dystonia
Metabolic syndrome diagnosis criteria
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
Meaning of dark urine, pale stool
Cholestasis - no bilirubin entering poo, not entering intestines to start with. Dark urine = reflux of conjugated bili –> bloodstream, where it is secreted in urine.
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
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
What are signs of complicated GORD?
Dysphagia, odynophagia, weight loss, anaemia
What is dyspepsia? Give TCP
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.
IN which populations is screening recommended for H pylori?
Those with family hx of:
- Malt-lymphoma
- Gastric cancer
Those about to begin short-term or long-term NSAID Rx - eradication is useful
TCP oesophageal cancer, including PMHx
60-70yo M presents with retrosternal discomfort postprandial, progressive dysphagia (solids –> now liquids) and weight loss, drenching night sweats. Has a PMHx of heartburn.
GORD TCP
4 important history questions to ask
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
- Dysphagia?
- Odynophagia?
3 B symptoms - cancer - Cough at night? microaspiration in GORD
- Hoarseness of voice?
TCP Zollinger-ellison syndrome
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.
4 key features of scleroderma (systemic sclerosis)
thickening + hardening of skin, mask-like face, Raynaud phenomenon present in 95%, sclerodactyly
What are the “triples” and what do they refer to? When are they given?
The antibiotics that cover gram negs, gram pos + anaerobes - given before appendectomy procedure to cover.
- Ampicillin
- Metronidazole
- Gentamicin
TCP acute cholecystitis
40yo Caucasian F presents with 9hours of constant 8/10 RUQ pain which radiates to her R) shoulder, with jaundice, a low-grade fever.
TCP acute cholecystitis with empyema
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.
What is the hereditary gene implicated in hereditary cholelithiasis formation?
ABCG8 gene mutation (a sterol transporter) –> excess cholesterol within the bile.
Chronic presentation of multiple gall stones
Fatty food intolerance
Steatorrhea
Flatulence
Pale stool
TCP pure cholesterol stone
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.
What is Courvoisier’s sign? What disease is it a feature of? TCP for this disease
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.
What are the tumour marker used in cholangiocarcinoma + GB adenocarcinoma diagnosis?
What investigation is recommended for definitive diagnosis?
AFP, CA19-9, CEA
MRCP
TCP acute pancreatitis
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.
What is the rash of chronic pancreatitis? Describe it.
Erythema ab igne - mottled “reticulated” dusky grey - caused by chronic heat pack application on back to relieve pain
What are the mainstay laboratory investigations used to diagnose chronic pancreatitis?
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
What are the major mutations implicated in pancreatic adenocarcinoma formation?
KRAS
CDKN2A = 95% of cases. Is a TSG.
MSH/MLH (link to hereditary colon cancer)
P53 - implicated in BM invasion
TCP pancreatic cancer
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.
Tumour markers pancreatic cancer
CEA, CA19-9. Possible raise in lipase.
Cystic fibrosis TCP
13yo with chronic sinusitis and obstructive pulmonary disease, GI distension, nutritional deficiency syndromes, salt loss, obstructive azoospermia AND genetic evidence
Diagnostic testing for coeliac
Anti-tTg (tissue transglutaminase) Ab – sensitive + specific test
IgA anti-endomysial and anti-gliadin IgA Ab tests
Total IgA to detect IgA deficiency
TCP/story to remember of Whipple’s disease
Caucasian farmer, Mr. Whipple, presents with diarrhoea, migratory polyarthritis, lymphadenopathy and signs of malabsorption.
Genetic susceptibility genes in
- Ulcerative colitis
- Crohns
UC = HLADR1 Crohns = HLADR7
Aetiology of hamartomas in bowel?
Mutations in tumour suppressor genes in children
Exact mutation in Cowden’s syndrome? What kind of gene is it?
PTEN - TSG
Exact mutation in Peutz-Jegher syndrome?
What kind of gene is it?
STK11 - TSG
Genetic susceptibility gene in Whipple disease
Genetic susceptibility gene HLA-DRB1 (whibble)
Genetic susceptibility genes in Coeliac
HLADQ2 or HLADQ8
Ceoliaqqqq
What is the order of presentation, in terms of age, between the hereditary + sporadic colorectal ca?
FAP - HNPCC - sporadic
Most common cause of hereditary colorectal ca?
HNPCC/Lynch syndrome
Mutation in FAP? Mode of inheritance?
APC/beta-catenin autosomal dominant
Mutation in HNPCC? What kind of genes are they? Patho (brief?)
MLH1 + MSH2 - dna mismatch repair genes
Born with one hit, develop the second
Retroperitoneal organs mnemonic?
SADPUCKER Suprarenal glands Aorta + IVC Duodenum 2nd + 3rd part Pancreas - except tail Ureters Colon - ascending + descending Kidney Esophagus Rectum
4 differential diagnoses for infantile/neonatal jaundice
Criggler Najjar
Gilbert syndrome
Biliary atresia
Polycystic kidney disease autosomal recessive!
