GI Flashcards
Wilsons disease
Slit lamp examination for Kayser-Fleischer rings
Reduced serum caeruloplasmin (as copper is not released out of the liver so does not need to bind to this protein)
Reduced total serum copper (this is because it’s bound to caeruloplasmin but free serum copper will be increased)
Increased 24 hr urinary copper excretion
Diagnosis confirmed by genetic analysis (ATP7B gene)
Primary biliary cholangitis?
Immunology - AMA antibodies in 98%, smooth muscle antibodies in 30%, raised serum IgM
Imaging required to excused an extra hepatic biliary obstruction - RUQ USS or MRCP
Alcoholic hepatitis?
LFTs - Raised gamma GT, AST:ALT >3
Primary sclerosing cholangitis
ERCP or MRCP - show multiple biliary structures giving a beaded appearance)
(P-ANCA may be positive but not always and liver biopsy may show fibrous obliterative cholangitis described as onion skin - limited role for these!)
Biliary colic
USS
Haemachromatosis?
Iron studies - raised Transferrin and ferritin with low TIBC
Genetic testing for HFE in family members
Others:
LFTs
Molecular genetic testing for C282Y and H63D mutations
MRI
Pancreatitis
Diagnosis = Characteristic pain + Serum amylase >3 times normal limit
(If late presentation >24 hours then lipase as it has a longer hold life)
USS imaging to assess aetiology
Small bowel bacterial overgrowth syndrome
Hydrogen breath testing
Hiatus hernia
Barium swallow
(note most pt will have it found during endoscopy incidentally due to the nature) of the symptoms
Chronic pancreatitis
CT abdo (or abdo X-ray but this is less sensitive) - will show pancreatic calcification
Functional tests - faecal elastase
Anal fissure
Examination
IBD
colonoscopy + biopsy
(Not in the acute setting due to risk of perforation!!! Use flexible sigmoidoscopy instead)
Perianal fistula?
Pelvis MRI
Spontaneous bacterial peritonitis
paracentesis, with a raised neutrophil count of over 250 cells
Coeliac disease
tissue transglutaminase (TTG) antibodies (IgA) and endomyseal antibody (IgA) to look for selective IgA deficiency, which would give a false negative coeliac result
Endoscopic intestinal biopsy - the ‘gold standard’ for diagnosis - this should be performed in all patients with suspected coeliac disease to confirm or exclude the diagnosis
(Note they must be eating glucose for 6 weeks before!)