Other Flashcards
Which investigation for coeliac disease has the highest negative predictive value?
HLA DR3 - close to all patients with coeliac disease carry this HLA type. However not usually useful for diagnosis.
What is the most sensitive investigation for coeliac disease?
HLA DR3 - close to all patients with coeliac disease carry this HLA type. However not usually useful for diagnosis.
A patient present with an itchy, vesicular rash over shoulders, elbows and knees. What gastrointestinal condition is this most likely associated with?
Coeliac disease
Dermatitis herpetiformis
What serology would you send to investigate potential coeliac disease?
tTG-IgA + total IgA level +/- DGP-IgG
Why is it particularly important for patients with coeliac disease to be up to date with vaccinations?
Due to hyposplenism are at increased risk for pneumococcal sepsis
Hereditary non-polyposis colorectal cancer is caused a mutation in (1), and inheritance is in a (2) pattern.
Mismatch repair gene e.g. MLH2, MSH2, MSH6
Autosomal dominant inheritance
Apart from CRC, what other malignancy are patients with HNPCC most at risk of developing?
Endometrial cancer
How do you know when to pursue genetic testing for diagnosis of HNPCC in patients with CRC?
Use Amsterdam criteria
3 relatives and 2 generations with assoc ca, one a first degree relative of others, FAP excluded, tumous verified on pathoogy
In patients with familial adenomatous polyposis, what is the risk of developing CRC?
100% in classic FAP
What is the underlying cause of familial adenomatous polyposis?
Mutated TSG (adenomatous polyposis coli/APC) gene
When should CRC screening begin for those with known FAP? What other form of cancer screening is recommended?
Flexi sig annually from age 10-12, progress to colonoscopy if adenomas detected
Annual thyroid ultrasound also recommended
What is the main physiological mechanism causing GORD?
Transient lower oesophageal sphincter relaxation
Which autoantibodies are associated with primary biliary cirrhosis?
ANA, AMA
Does primary biliary cirrhosis affect intrahepatic bile ducts, extrahepatic bile ducts, or both?
Intrahepatic
Does primary sclerosing cholangitis affect intrahepatic bile ducts, extrahepatic bile ducts, or both?
Both