Gastroenterology Flashcards
Fabry disease
X-linked recessive lipid storage disorder in which there a deficiency in the fat enzyme alpha-galactosidase
Clinical features of Fabry disease include:
Acroparaesthesia: tingling, burning pain in the hands and feet triggered by stress such as emotion, extreme temperatures, or exercise
Angiokeratoma corporis diffusum: lightly verrucous, deep-red to blue-black papules on the trunk (in the bathing trunk distribution)
Cardiac: mitral valve prolapse or regurgitation usually, but any valvular heart defect can occur
Strokes: including young strokes/TIAs
Chronic Kidney Disease: proteinuria usually, can present late in fulminant renal failure
Gaucher’s disease
Autosomal recessive disorder characterised by a deficiency of glucocerebrosidase
Primary biliary cholangitis - diagnosis
anti-mitochondrial antibodies (AMA) M2
raised serum IgM
First-line in PBC
Ursodeoxycholic acid
How to diagnose Small Bowel Bacterial Overgrowth Syndrome
Hydrogen breath test
What is useful for diagnosing and monitoring the severity of liver cirrhosis
Transient elastography (FibroScan)
Main causes of Liver Cirrhosis
Alcohol
Non-alcoholic fatty liver disease (NAFLD)
Viral hepatitis (B and C)
Screening for haemochromatosis
General population: transferrin saturation > ferritin
Family members: HFE genetic testing
Treatment of small bowel bacterial overgrowth syndrome.
Rifaximin
Wilson’s disease
Autosomal recessive disorder characterised by excessive copper deposition in the tissues.
Defect in the ATP7B gene located on chromosome 13
Management of Wilson’s Disease
Penicillamine (chelates copper)
SAAG > 11g/L
(Indicates portal hypertension)
Liver disorders:
Cirrhosis/alcoholic liver disease
Acute liver failure
Liver metastases
Cardiac:
Right heart failure
Constrictive pericarditis
Other causes:
Budd-Chiari syndrome
Portal vein thrombosis
Veno-occlusive disease
Myxoedema
SAAG <11g/L
Hypoalbuminaemia:
Nephrotic syndrome
Severe malnutrition (e.g. Kwashiorkor)
Malignancy:
Peritoneal carcinomatosis
Infections:
Tuberculous peritonitis
Histology of Crohn’s Disease
Inflammation in all layers from mucosa to serosa
Goblet cells
Granulomas
Vitamin A - functions
Retinol
Converted into retinal, an important visual pigment
Important in epithelial cell differentiation
Antioxidant
HELLP
Haemolysis
Elevated Liver enzymes
Low Platelets
Dubin-Johnson syndrome
Autosomal recessive disorder
Raised Conjugated Bilirubin
(conjugated, therefore present in urine)
Zollinger-Ellison syndrome
Excessive levels of gastrin secondary to a gastrin-secreting tumour.
- Duodenum
- Pancreas
Diagnosis of Zollinger-Ellison syndrome
Fasting gastrin levels
Secretin stimulation test
Treatment of Pyogenic liver abscess
Drainage (typically percutaneous)
+
Amoxicillin + ciprofloxacin + metronidazole
Most common organisms found in pyogenic liver abscesses are:
Staphylococcus aureus in children
E-coli in adults.
Gastrectomy: complications
Dumping syndrome
Food of high osmotic potential moves into small intestine causing fluid shift
Iron-deficiency anaemia
Osteoporosis/osteomalacia
Vitamin B12 deficiency
Smoking and IBD
Smoking makes Crohn’s worse
But may help ulcerative colitis
Adverse effects - Metoclopramide
D2 receptor antagonist
Extrapyramidal effects
Diarrhoea
Hyperprolactinaemia
Fresh Frozen Plasma - when to give in UGIB
fibrinogen <1 g/L
or
PT/APTT/INR over 1.5 times the normal value.
Carcinoid tumours - Investigations + management
Urinary 5-HIAA
Somatostatin analogues e.g. octreotide
Diarrhoea: cyproheptadine may help
Haemochromatosis
Autosomal recessive disorder of iron absorption and metabolism resulting in iron accumulation
Reversible complications of Haemochromatosis
Cardiomyopathy
Skin pigmentation
Irreversible complications of Haemochromatosis
Liver cirrhosis
Diabetes mellitus
Hypogonadotrophic hypogonadism
Arthropathy
Cholestyramine
Bile acid sequestrant - used mainly in the managemenyt of hyperlipidaemia
Decreases bile acid reabsorption in the small intestine
Can be used in Crohn’s disease for treatment diarrhoea following bowel resection.
Best marker for determining the risk of developing cirrhosis in Hepatitis B infection
Hepatitis B DNA level
ECG: Hyperkalaemia
Peaked or ‘tall-tented’ T waves (occurs first)
Loss of P waves
Broad QRS complexes
Sinusoidal wave pattern
Ventricular fibrillation
Beriberi
Thiamine deficiency
Peripheral neuropathy
High-output cardiac failure
Weight loss.
Pellagra
Niacin Deficiency
Dementia
Dermatitis
Diarrhoea
Hydatid cysts
Tapeworm parasite Echinococcus granulosus
These cysts are allergens which precipitate a type 1 hypersensitivity reaction.
Volvulus - define
Torsion of the colon around it’s mesenteric axis resulting in compromised blood flow and closed loop obstruction
Management
Sigmoid volvulus
Rigid sigmoidoscopy with rectal tube insertion
Management
Caecal Volvulus
Likely operative - Right hemicolectomy
Management of Hepatorenal syndrome
Terlipressin
20% HAS
TIPS
Liver transplant
Medical treatment for Achalasia
CCB (Nifedipine) / Nitrates
Triad of Budd Chiari Syndrome
Ascites
Tender Hepatomegaly
Abdominal pain
(Hepatic Vein Thrombosis)
Initial investigation in patients with possible chronic pancreatitis to determine exocrine pancreatic insufficiency
Faecal Elastase
Common drugs causing cholestasis
Flucloxacillin
Erythromycin
Chlorpromazine
Oral contraceptives
Anabolic steroids
Features of Refeeding Syndrome
Hypophosphataemia
This is the hallmark symptom of refeeding syndrome
may result in significant muscle weakness, including myocardial muscle (→ cardiac failure) and the diaphragm (→ respiratory failure)
Hypokalaemia
Hypomagnesaemia: may predispose
to torsades de pointes
Triple therapy in H Pylori eradication
Amox + Clari + PPI
Metro + Clari + PPI (Pen Allergic)
Jejunal biopsy shows deposition of macrophages containing Periodic acid-Schiff (PAS) granules
Whipple’s disease
Treatment for Whipple’s
Co-Trimoxazole (+ IV Penicillin)
Management of eosinophilic oesophagitis
Dietary modification and topical steroids (fluticasone and budesonide)
Management of SBP - acute
Intravenous cefotaxime
Lille score > 0.45 - what does it mean?
Used to evaluate response to corticosteroid treatment after 7 days (Prognosis in alcoholic hepatitis)
Poor response to steroids and a poor prognosis.
Autoimmune Hepatitis - Antibodies
Type 1
Anti-nuclear antibodies (ANA)
Anti-smooth muscle antibodies (ASMA)
Autoimmune Hepatitis - Antibodies
Type 2
Anti-liver/kidney microsomal type 1 antibodies (LKM1)
? is a highly sensitive and specific test for inflammatory bowel disease
Faecal calprotectin
Vitamin B1
Thiamine
Dry beriberi
Peripheral neuropathy
Thiamine deficiency
Wet beriberi
Dilated cardiomyopathy
Thiamine deficiency
What investigation to diagnose bile acid malabsorption
SeHCAT
What is used to assess pancreatic exocrine function in pancreatic insufficiency
Faecal elastase
Vitamin C
Ascorbic acid
Wernicke’s encephalopathy - triad
Nystagmus
Ophthalmoplegia
Ataxia
Prophylaxis of variceal haemorrhage
Propranolol
Triad of:
Dysphagia (secondary to oesophageal webs)
Glossitis
Iron-deficiency anaemia
Plummer-Vinson syndrome
Alcoholic liver disease - LFT pattern
AST:ALT is normally > 2
Gamma-GT is elevated
First-line to maintain remission in Crohn’s Disease
Azathioprine or mercaptopurine
First-line anti-motility agent in IBS
Loperamide
Management of Whipple’s Disease
Oral co-trimoxazole
Vitamin D deficiency
Calcium
Phosphate
ALP
Calcium - low
Phosphate - low
ALP - high
Gastric MALT lymphoma - treatment
Eradicate H. pylori
Omeprazole, clarithromycin, and amoxicillin
Acute mesenteric ischaemia - treatment
Immediate laparotomy
If a severe flare of UC has not responded to IV steroids after 72 hours - what next?
IV ciclosporin or surgery
