Gastroenterology Flashcards
Haemochromatosis - inheritance, what gene
Autosomal recessive
HFE gene - C282Y - most common
H63D mutation
Haemochromatosis - what features
Arthritis Diabetes Cardiomyopathy Bronzed skin Liver failure Hypogonadism
Haemochromatosis - reversible organ damage
Pigmented skin
Cardiomyopathy
Haemochromatosis - irreversible organ damage
Arthritis, Diabetes, Liver disease, Hypogonadism
You suspect a patient has haemochromatosis - what test would you do
Screening: Transferrin saturation >50%
A man has haemochromatosis - what test would you do
Known mutations: HFE (or other) gene testing = C282Y gene test
What test would you order on liver histology to look for iron accumulation?
Perl’s stain
What is the greatest risk factor for isoniazid induced hepatitis?
Increasing age (suggest not treating for latent TB unless reactivation risk is high)
UC bowel surveillance
high risk: annual stricture in past 5 years extensive mod /evere colitis dysplasia in past 5 years PSC or transplant for same FHx CRC < 50yo
Primary biliary cirrhosis
cholestatic liver disease raised ALP ALT / AST > 5 times ULN AMA +ve 95% pts ANA +ve elevated IgG normal USS
What are the contraindications to liver biopsy
anaemia < 100 INR > 1.4 plts < 100 hydatid cyst with ecchinococcus granulosus (anaphylaxis if punctured) bile duct obstruction
SE of Boceprevir
Anaemia
Direct antiviral against Hep C (esp Genotype 1)
Altered taste
SE of Telaprevir
Rash - bad, could be hospitalised
Direct antiviral against Hep C (esp Genotype 1)
Extra intestinal manifestations of IBD in ACTIVE disease
Erythema nodosum
Oral ulcers
Arthritis
Episcleritis
Extra intestinal manifestation of IBD independent of active disease (in INACTIVE disease)
PSC Ank spond Uveitis Pyoderma gangrenousum Kidney stones, gall stones
Rx of eosinophilic oesophagitis
Topical steroids
Elimination - 6 foods - milk, egg, wheat, soy, peanuts/treenuts, seafood
Consider dilation (may get mucosal tearing)
Components of blatchford score for GI bleeding
BUN
Hb
BP
Others: Cardiac failure, hepatic failure, syncope, malaena
Dx of pernicious anaemia
intrinsic factor antibodies 100% specific; 50-70% sensitive
elevated fasting serum gastrin level is sensitive but not specific
Hepatic vein pressure gradient HVPG
> 12 indicates cirrhosis, ascites devt
H Pylori
a/w ulcers, MALT, gastric cancer
not a/w GORD
Drug induced liver disease - hepatocellular
paracetamol sodium valproate, phenytoin MAOIs halothane anti-tuberculosis: isoniazid, rifampicin, pyrazinamide statins alcohol amiodarone methyldopa nitrofurantoin
Drug induced liver disease - cholestatic
oral contraceptive pill
antibiotics: flucloxacillin, co-amoxiclav, erythromycin*
anabolic steroids, testosterones
phenothiazines: chlorpromazine, prochlorperazine
sulphonylureas
fibrates
rare reported causes: nifedipine
Drug induced liver disease - cirrhosis
methotrexate
methyldopa
amiodarone
painful red eye
dilated pupil - glaucoma
small pupil - uveitis
alpha 1 antitrypsin
alleles classified by their electrophoretic mobility - M for normal, S for slow, and Z for very slow normal = PiMM homozygous PiSS (50% normal A1AT levels) homozygous PiZZ (10% normal A1AT levels)