GI Flashcards
What is haemochromatosis?
An iron storage disorder- deposition of iron in tissues
What is the inheritance of haemochromatosis?
Autosomal recessive mutation on the HFE gene on chromosome 6
When does haemochromatosis usually present?
Age > 40
later in females
Presentation of haemochromatosis
Chronic tiredness, joint pain, pigmentation (bronze), hair loss, ED, amenorrhoea, memory and mood problems
Investigations in haemochromatosis
High serum ferritin, transferrin saturation
Liver biopsy with Perl’s stain- iron concentration in parenchymal cells
Genetic testing
CT/MRI for iron deposits
Management of haemochromatosis
Venesection
Complications of haemochromatosis
- Type 1 diabetes
- Liver cirrhosis, HCC
- Cardiomyopathy
- Iron in pituitary + gonads- hypogonadism, infertility
- Hypothyroidism
- Pseudogout
What is Wilson’s disease?
Excessive accumulation of copper in the body
What is the pattern of inheritance of Wilson’s disease?
Autosomal recessive
Mutation of ‘Wilson disease protein’ on chromosome 13
Clinical features of Wilson’s disease
Hepatic- chronic hepatitis, liver cirrhosis
CNS- dysarthria, dystonia, Parkinsonism, depression, psychosis
Kayser-Fleischer rings
Haemolytic anaemia, renal tubular acidosis, osteopenia
What can be seen in the eyes in Wilson’s disease?
Kayser-Fleischer rings
Investigations in Wilson’s disease
Serum caeruloplasmin
24hr urine copper assay
Liver biopsy
Management of Wilson’s disease
Copper chelation- Penicillamine, Trientene
What is the aetiology of Alpha-1-Antitrypsin deficiency?
A1AT inhibits neutrophil elastase –> excessive protease enzymes –> liver cirrhosis and lung disease
What is the inheritance pattern of Alpha-1-Antitrypsin deficiency?
Autosomal recessive defect on chromosome 14
What are the 2 key clinical features in Alpha-1-Antitrypsin deficiency?
Liver cirrhosis
Pulmonary basal emphysema
What is found on liver biopsy in Alpha-1-Antitrypsin deficiency?
Acid-Schiff positive staining globules
Management of Alpha-1-Antitrypsin deficiency
Stop smoking
Manage symptoms
Organ transplant
What is the aetiology of Primary Biliary Cirrhosis?
Immune system attacks small bile ducts –> cholestasis –> fibrosis –> cirrhosis –> liver failure
–> decreased excretion of bile acids, bilirubin and cholesterol
Clinical features of Primary Biliary Cirrhosis
- Bile acids cause jaundice
- Bilirubin causes jaundice
- Cholesterol causes xanthelasma + CV disease
- GI disturbance, malabsorption, greasy stools
- Cirrhosis- ascites, splenomegaly, spider naevi
Investigations in Primary Biliary Cirrhosis
Raised ALP
Antimitochondrial antibodies
Liver biopsy to diagnose and stain
Management of Primary Biliary Cirrhosis
Ursodeoxycholic acid- reduces absorption of cholesterol
Cholestyramine- reduces absorption of bile acids
Liver transplant
Immunosuppression
What is the aetiology of Primary Sclerosing Cholangitis?
Intrahepatic/Extrahepatic ducts become strictured/fibrotic
- -> Obstruction to flow of bile out of liver and into intestines
- -> Hepatitis, Cirrhosis + Fibrosis
Risk factors for Primary Sclerosing Cholangitis
Ulcerative colitis
Male
Age 30-40
FH
Presentation of Primary Sclerosing Cholangitis
Jaundice RUQ pain Pruritus Fatigue Hepatomegaly
LFTs in Primary Sclerosing Cholangitis
ALP most deranged, raised bilirubin
Diagnosis of Primary Sclerosing Cholangitis
MRCP –> bile duct lesions/strictures
Management of Primary Sclerosing Cholangitis
Liver transplant curative
ERCP + stent
Ursodeoxycholic acid, Cholestyramine
Complications of Primary Sclerosing Cholangitis
Colorectal cancer
Cholangiocarcinoma
Cirrhosis
Fat-soluble vitamin deficiencies
How do you test for H pylori?
C13 urea breath test/Stool antigen test + CLO test
Management of H pylori
Triple therapy:
- PPI
- Amoxicillin
- Clarithromycin + Metronidazole
What is Achalasia?
Disorder of motility of lower oesophageal sphincter –> impaired peristalsis + fails to relax
Often due to an acquired aganglionic segment
Presentation of achalasia
Dysphagia, regurgitation, chest pain
CXR finding in achalasia
Dilated oeseophagus
Gold standard investigation in achalasia
Manometry
Finding on barium swallow in achalasia
Bird’s beak
Management of achalasia
CCB/Nitrates
Surgery
Causes of upper GI bleed
Peptic ulcer disease
Varices, Mallory-Weiss tear
Malignancy
Drugs
Investigation required in upper GI bleed
Endoscopy
What is a Mallory-Weiss tear?
Mucosal tear at the oesophago-gastric junction
Caused by persistent vomiting/wretching
Risk factors for Mallory-Weiss tear?
Alcohol, Bulimia, raised ICP, Gastroenteritis
What are oesophageal varices?
Dilated veins at junction between portal and systemic venous circulation
In distal oesophagus/proximal stomach
Risk factors for oesophageal varices
Portal hypertension from chronic liver disease
What score is used for mortality risk in GI bleed?
Rockall score
What are the 3 types of liver cancer?
Hepatocellular carcinoma (80%)
Cholangiocarcinoma
Mets
What are the common primary sites for liver mets?
GI, pancreas, breast, melanoma
Risk factors for Hepatocellular carcinoma
Hep B/C, Alcohol, NAFLD, chronic liver disease
Presentation of Hepatocellular carcinoma
Asymptomatic and presents late
Weight loss, abdo pain, anorexia, N&V, jaundice, pruritus
Tumour marker for Hepatocellular carcinoma
AFP
Management of HCC
Surgery
+ Sorafenib etc for viral hepatitis
Risk factors for Cholangiocarcinoma
Primary Sclerosing Cholangitis
Presentation of Cholangiocarcinoma
Painless jaundice
Tumour marker for Cholangiocarcinoma
Ca19-9
Investigations for Cholangiocarcinoma
Ca19-9
CT/MRI
ERCP
Management of Cholangiocarcinoma
Symptomatic management with bile duct stent
Surgery
What is peritonitis?
Inflammation of the peritoneum due to blood, air, bacteria or GI contents
Causes of peritonitis
AEIOU Peritoneum:
- Appendicitis
- Ectopic pregnancy
- Infection with TB
- Obstruction
- Ulcer
- Peritoneal dialysis
Aetiology of pancreatitis
Pancreatic enzymes destroy pancreas and it’s blood supply
Presentation of pancreatitis
N&V, epigastric pain radiating to back, relieved on sitting forwards, tachycardia
Signs on examination of pancreatitis
Cullen’s sign- superficial oedema and bruising around umbilicus
Grey-turner’s sign- bruising of flanks
Raised blood result in pancreatitis
Amylase
Management of pancreatitis
IV fluids
pain relief
Blood derangements in alcoholic liver disease
Raised MCV
LFT: Raised AST, ALT, GGT, later on ALP, Low albumin, Raised bilirubin
Clotting: Raised PT
Complications of alcohol
Alcoholic liver disease, cirrhosis and HCC Alcohol dependence and withdrawal Wernicke-Korsakoff syndrome Pancreatitis Alcoholic cardiomyopathy
Presentation of alcohol withdrawal
6-12hrs: tremor, sweating, headache, craving, anxiety
12-24hrs: hallucinations
24-48hrs: seizures
24-72hrs: delirium tremens
Management of alcohol withdrawal
Benzodiazepine- Chlordiazepoxide 5-7 days
IV B vitamins- Pabrinex
What is the aetiology of delirium tremens?
Chronic alcohol use –> GABA system up-regulated + glutamate system down-regulated –> opposite when alcohol removed –> excess adrenergic activity
Presentation of delirium tremens
Acute confusion, agitation, delusions, hallucinations, tremor, tachycardia, hypertension, hyperthermia, ataxia, arrhythmias
Aetiology of Wernicke-Korsakoff syndrome
Thiamine deficiency
Presentation of Wernicke’s encephalopathy
Confusion, oculomotor disturbance, ataxia
Presentation of Korsakoff’s syndrome
Memory impairment, behavioural changes
Causes of liver cirrhosis
Alcoholic liver disease, NAFLD, Hep B/C
Presentation of liver cirrhosis
Jaundice, hepatosplenomegaly, spider naevi, palmar erythema, gynaecomastia, bruising, ascites
Investigations in liver cirrhosis
USS Fibroscan for transient elastography
Liver biopsy confirms diagnosis
Screened for HCC with AFP and USS every 6mth
Scoring systems for Liver cirrhosis
Child-Pugh score A, B, C for severity
MELD score for mortality
Management of liver cirrhosis
High protein low sodium diet
Propranolol reduces portal hypertension
Liver transplant
Complications of liver cirrhosis
Malnutrition, portal hypertension, varices, ascites, spontaneous bacterial peritonitis, hepatorenal syndrome, hepatic encephalopathy, HCC
Stages of NAFLD
- NAFLD
- Non-alcoholic steatohepatitis
- Fibrosis
- Cirrhosis
Risk factors for NAFLD
Obesity, T2DM, hypercholesterolaemia, age, smoking, hypertension
What is the aetiology of Meckel’s diverticulum?
Vestigial remnant of vitello-intestinal duct at distal ileum
Clinical features of Meckel’s diverticulum
Asymptomatic/haemorrhage/obstruction
Aetiology of Acute Mesenteric Ischaemia
Embolus/Thrombosis reduces blood flow to intestine –> bacterial translocation –> systemic inflammatory response
Presentation of acute mesenteric ischaemia
Severe, colicky, poorly localised pain
No real tenderness/peritonitis
How is acute mesenteric ischaemia diagnosed?
CT Angiography
Management of acute mesenteric ischaemia
O2, IV fluids
Papverine to relieve spasm
IV Unfractionated Heparin/Surgical angioplasty
Causes of ischaemic colitis
Thrombosis, emboli, reduced cardiac output, shock, trauma, COCP, cocaine, strangulated hernia, vasculitis, clotting disorders
Clinical features of ischaemic colitis
Acute LIF pain
N&V
Loose stools containing blood
What blood gas abnormality is seen in ischaemic colitis?
Metabolic acidosis
Investigation and finding in ischaemic colitis
Colonoscopy- blue swollen mucosa
Barium enema- thumb printing
Which blood vessels are affected in ischaemic colitis?
Inferior and Superior mesenteric artery
Differential diagnosis of malabsorption
Coeliac, HIV, Lymphoma, TB, Pancreatic insufficiency, Crohn’s, Amyloidosis, Hyper/pothyroidism, diabetes, eating disorders
Define ileus
A non-mechanical obstruction of bowel
Causes of intestinal obstruction
Adhesions, strangulated hernia, malignancy, volvulus, post-operatively, CF, Hirschsprung’s
Presentation of intestinal obstruction
N&V- faeculant, abdo pain, failure to pass bowel movements or flatus, abdominal distension, high-pitched bowel sounds, dehydration
What is heard on auscultation of bowel sounds in intestinal obstruction?
High-pitched bowel sounds
Management of intestinal obstruction
NBM
Fluids
Intestinal decompression- endoscopy/NG tube
Laparotomy +/- stoma
What is sigmoid volvulus?
Faeces and gas-filled sigmoid loop twists on mesentary
Risk factors for sigmoid volvulus
Elderly, constipation, megacolon, history of sigmoid volvulus, pregnancy, pelvic masses
Presentation of sigmoid volvulus
Sudden onset lower abdominal colicky pain, distension, failure to pass flatus or stool, empty rectum
What findings are present on AXR of sigmoid volvulus?
Coffee-bean sign
Management of sigmoid volvulus
Urgent admission + decompression
What is paralytic ileus?
Lack of peristalsis in the bowel due to an autonomic imbalance causing sympathetic overactivity affecting the colon
Presentation of paralytic ileus
Nausea and faeculant vomiting, NO pain, failure to pass bowel movements or flatus, NO bowel sounds, abdominal distension
Risk factors for paralytic ileus
Chest infection, MI, stroke, AKI, trauma, elderly
What findings are present on AXR of paralytic ileus?
Fluid levels, small bowel distension
What is the aetiology of diverticular disease?
Herniation of mucosa through thickened colonic muscle
What are the commonest sites of diverticular disease?
Sigmoid and descending colon
Risk factors for diverticular disease
Age, obesity, low dietary fibre
Presentation of uncomplicated diverticular disease
Left iliac fossa pain, worse on eating, better on flatus/defaecation, bloating, bleeding, constipation
Presentation of diverticulitis
Diverticular disease (Left iliac fossa pain, worse on eating, better on flatus/defaecation, bloating, bleeding, constipation PLUS fever, tachycardia
Management of diverticular disease
Asymptomatic- high fibre diet
Symptomatic- bulk-forming laxative, paracetamol
Diverticulitis- fluids, antibiotics (Co-amoxiclav 7 days), Surgery
Complications of diverticular disease
POFASH:
- Perforation
- Obstruction
- Fistula
- Abscess
- Stricture
- Haemorrhage
Risk factors for GORD
Male, increased abdominal pressure (pregnancy, obesity etc), smoking, hiatus hernia
Management of GORD
Antacids eg gaviscon
PPI eg Lansoprazole
Complications of GORD
Peptic stricture, Barrett’s oesophagus
What is the transformation in Barrett’s oesophagus?
Squamous to columnar epithelium
What is the most common location of peptic ulcers?
Duodenal/lesser curvature of stomach
How do you test for H pylori?
Urea breath test
Stool antigen
Management of H pylori
Triple therapy:
- PPI- Lanzoprazole
- Clarithromycin
- Metronidazole
What is the aetiology behind NSAIDs causing peptic ulcers?
NSAIDs inhibit prostaglandin production for mucous production –> no mucus to protect stomach
What is the aetiology of coeliac disease?
Autoimmune gluten-sensitive enteropathy
Gliadin protein –> immune cell reaction at HLADQ8 –> produces toxic T cells –> villous atrophy
Presentation of coeliac disease
Bloating, FTT, diarrhoea, anaemia
Dermatitis herpetiformis
Name of skin condition seen in coeliac disease
Dermatitis Herpetiformis
Blood tests for coeliac disease
Tissue transglutaminase antibodies IgA
Endomysial antibody IgA
How long does gluten need to be consumed to test for coeliac disease?
6 weeks
Investigations for coeliac disease
Tissue transglutaminase antibodies IgA
Endomysial antibody IgA
FBC for anaemia
Duodenal biopsy
What is found on duodenal biopsy in coeliac disease?
Villous atrophy and crypt hyperplasia
What criteria is used to diagnose coeliac disease on duodenal biopsy?
Marsh criteria
Complications of Coeliac disease
Vitamin D/Iron deficiency
Osteoporosis
Infertility
Malignancy
IBD affecting whole GI tract, skip lesions, no blood/mucus, transmural inflammation
Crohn’s disease
IBD with continuous inflammation, limited to colon and rectum, blood and mucus
Ulcerative colitis
Features of Crohn’s disease
NESTS:
- No blood or mucus
- Entire GI tract
- Skip lesions
- Terminal ileum/Transmural inflammation
- Smoking is RF
Features of Ulcerative Colitis
CLOSE UP:
- Continuous inflammation
- Limited to colon and rectum
- Only superficial mucosa
- Smoking protective
- Excrete blood and mucus
- Use aminosalicylates (Sulfasalazine)
- Primary sclerosing cholangitis
Which of Crohn’s and UC is smoking a risk factor and which is smoking protective for?
Crohn’s- smoking is a risk factor
UC- smoking is protective
Presentation of IBD
Diarrhoea, abdominal pain, bloating, pasing blood
Investigations of IBD
CRP, faecal calprotectin for inflammation
Endoscopy and biopsy diagnostic
Management of Crohn’s
Acute: Steroids (oral prednisolone), Immunosuppressant (eg Azathioprine)
Maintain remission: Azathioprine, Mercaptopurine
Management of Ulcerative Colitis
Aminosalicylate- Sulfasalazine, Corticosteroids
Azathioprine
Panproctocolostomy + ileostomy
Presentation of IBS
Diarrhoea, constipation, fluctuating bowel habit, abdo pain, bloating
Symptoms worse after eating, improves after defaecation
Criteria for IBS
Abdo pain/discomfort relieved on opening bowels or associated with a change in bowel habit AND 2 of... - Abnormal stool passage - Bloating - Worse after eating - PR mucus
Management of IBS
Lifestyle: fluid intake, limit caffeine/alcohol intake, low FODMAP diet, probiotic supplement 1st line meds: - Loperamide for diarrhoea - Laxatives for constipation - Antispasmodic- Hyoscine bromide 2nd line: Amitriptylline
Common causative organisms of infective diarrhoea
Viral- rotavirus, norovirus, adenovirus
Bacteria- Campylobacter jejuni, E coli, Salmonella, Shigella
Parasite- Giardia lamblia
Risk factors for gastric cancer
Age, male, H pylori, diet, smoking, FH
Most common location of gastric cancer
50% pylorus
Types of gastric cancer by location
Cardia/GO junction- adenocarcinoma
Distal- carcinoma
Presentation of gastric cancer
Dyspepsia, Dysphagia, weight loss, anaemia, vomiting
Investigations of gastric cancer
FBC, LFT
Endoscopy/sigmoidoscopy + biopsy
Common sites of metastasis of gastric cancer
Lung, liver, ovary
Management of gastric cancer
Surgery + pre-op chemo with 5-FU
What condition are gastrointestinal stromal tumours associated with?
Neurofibromatosis type 1
Management of gastrointestinal stromal tumour
Complete surgical resection + Imatinib
Presentation of gastrointestinal stromal tumour
Early satiety, bloating, fever, weight loss, night sweats
What type of cancer is a gastrointestinal stromal tumour
Soft tissue sarcoma
What is the aetiology of MALT Lymphoma?
Mucosa-associated lymphoid tissue
Extra-nodal type of Non-Hodgkin’s lymphoma
Where is MALT Lymphoma most common?
Gastric
What infections is MALT Lymphoma associated with?
H pylori
Campylobacter jejuni
Presentation of MALT Lymphoma
Dyspepsia, fever, nausea, constipation, weight loss, pain, ulcer
Management of MALT Lymphoma
Eradication of H pylori may induce remission
Rituximab + chemo + radio +/- surgery
Presentation of Topical Sprue
Diarrhoea, weight loss, steatorrhoea, fatigue
Deficiency of iron, folate, vit B12, vit A/D/K
Investigations in Topical Sprue
Bloods: Deficiency of iron, folate, vit B12, vit A/D/K
Jejunal biopsy: incomplete villous atrophy
What does jejunal biopsy show in topical sprue?
Incomplete villous atrophy
Management of topical sprue
Fluids
Tetracycline
Nutritional supplements- folic acid, B12, iron
Risk factors for acute mesenteric ischaemia
Age > 50, MI, endocarditis, atherosclerosis, hypotension, vasodepressive drugs, hypercoagulability disorders (Protein C+S deficiency), intra-abdominal infection
Aetiology of chronic mesenteric ischaemia
Chronic atherosclerotic disease of vessels supplying intestine
Presentation of chronic mesenteric ischaemia
Colicky/constant poorly localised pain
Weight loss, post-prandial pain and fear of eating
N&V
Investigations of chronic mesenteric ischaemia
Arteriography gold standard
Management of chronic mesenteric ischaemia
Asymptomatic: smoking cessation, antiplatelet
Symptomatic: open or endovascular revascularisation
Aetiology of ischaemic colitis
Compromise of blood supply to colon
Management of ischaemic colitis
Bowel rest + supportive care
Broad spectrum abx
Laparotomy and removal of necrotic part
Peak age for appendicitis
Age 10-20
Presentation of appendicitis
Abdo pain- central then settles in RIF
Loss of appetite, N&V, guarding, rebound and percussion tenderness
Tender in McBurney’s point
Rovsing’s sign
What is Rovsing’s sign?
Palpation of the LIF causes RIF pain
Management of appendicitis
Diagnostic laparoscopy + appendicectomy
Define cholestasis
Blockage to the flow of bile
Define cholelithiasis
Presence of gallstones
Define choledocholelithiasis
Gallstones in the bile duct
What is biliary colic?
Intermittent RUQ pain caused by gallstones irritating bile ducts
Define cholecystitis
Inflammation of gallbladder
Define cholangitis
Infection and obstruction of biliary system
What is gallbladder empyema?
Pus in the gallbladder
Investigation/Management of suspected Gallstones
- LFT + USS- raised bilirubin
- MRCP- if USS doesn’t show stones
- ERCP- down to sphincter of oddi to remove stones from bile duct
- Cholecystectomy
What is the significance of a raised bilirubin in biliary disease?
Obstruction of the bile duct
Stone/head of pancreas tumour/cholangiocarcinoma
What does a raised AST/ALT suggest?
Hepatocellular injury
What is Murphy’s sign?
RUQ pain exacerbated by deep inspiration –> gallbladder pathology
What is Charcot’s triad?
- RUQ pain
- Fever
- Jaundice
What is the name of the group of symptoms which suggest cholangitis?
Charcot’s triad
- RUQ pain
- Fever
- Jaundice
Causes of Hepatitis
Alcoholic hepatitis, NAFLD, viral hepatitis, autoimmune hepatitis, drug-induced hepatitis (paracetamol)
Presentation of hepatitis
Abdo pain, fatigue, pruritus, muscle and joint aches, N&V, jaundice, fever (viral)
What happens to LFTs in hepatitis?
Raised AST/ALT
Raised bilirubin
Which is the most common viral hepatitis worldwide?
Hepatitis A
How is Hepatitis A transmitted?
Faeco-orally
Management of Hepatitis A
Resolves without treatment in 1-3mths
Analgesia
Vaccine prevention
How is Hepatitis B transmitted?
Blood/bodily fluids + vertical transmission
What do each of the following proteins show in Hepatitis B?
- HBsAg
- HBeAg
- HBcAb
- HBsAb
- Hep B virus DNA
- HBsAg- active infection
- HBeAg- high infectivity
- HBcAb- past or current infection
- HBsAb- vaccination or past or current infection
- Hep B virus DNA- viral load
What does the Hepatitis B vaccine contain?
Hep B surface antigen- then testing for HBsAb to confirm response
Investigations in Hepatitis B
Fibroscan for cirrhosis and USS for HCC
Management of Hepatitis B
Antivirals- Tenofovir
Liver transplant
How is Hepatitis C transmitted?
Blood + bodily fluids
What proportion of people infected with Hepatitis C become chronic?
75%
How is Hepatitis C diagnosed?
Hep C antibody screening test
Hep C RNA testing to confirm diagnosis
Management of Hepatitis C
Antivirals- Pegylated interferon/Ribavirin
Liver transplant
How is Hepatitis D transmitted?
Can only survive in patients with Hep B as attaches to HBsAg to survive
How is Hepatitis E transmitted?
Faeco-oral route
Management of Hepatitis E
Usually self-limiting within 1 month
What type of cell response is autoimmune hepatitis?
T-cell mediated response
What is an important step in management of all viral hepatitis?
NOTIFICATION of public health
Describe the types of autoimmune hepatitis
Type 1: adults (40/50s)- fatigue + features of liver disease- most chronic
Type 2: children/teenage/early 20s- acute hepatitis with rise in AST/ALT and jaundice- more acute
Which antibodies are found in type 1 autoimmune hepatitis?
ANA, anti-actin, anti-soluble liver antigen
Which antibodies are found in type 2 autoimmune hepatitis?
Anti-LKM1, Anti-LC1
Diagnosis of autoimmune hepatitis
Liver biopsy
Management of autoimmune hepatitis
High dose prednisolone + azathioprine
Liver transplant
What are the 2 types of volvulus and how do they differ?
Sigmoid- anticlockwise
Caecum- clockwise
Investigations in volvulus
AXR- coffee bean sign
CT scan to confirm diagnosis
Complications of volvulus
Obstruction, ischaemia, perforation