General GI Pathology Flashcards
What is Hirschsprung’s disease?
Absence of ganglion cells in the myenteric plexus
What is the male to female ratio of Hirschsprung’s disease?
4:1
Name a disorder associated with Hirschsprung’s disease
Down syndrome
Name a gene associated with Hirschsprung’s disease
RET proto-oncogene Cr10
Describe the histological findings on biopsy in Hirschsprung’s disease
Hypertrophied nerve fibres, no ganglia
What is volvulus?
Complete twisting of a bowel loop at the mesenteric base around the vascular pedicle
Where is the most common site of volvulus?
Infants: small bowel
Elderly: sigmoid colon
State the two most common sites of ischaemic colitis
Splenic flexure (transition of superior mesenteric artery to inferior mesenteric artery), rectosigmoid (transition of inferior mesenteric artery to internal iliac artery)
State the peak age of onset of Crohn’s disease and ulcerative colitis
Crohn’s disease: 20-29
Ulcerative colitis: 20-25
State the monozygotic twin concordance of Crohn’s disease and ulcerative colitis
Crohn’s disease: 50%
Ulcerative colitis: 15%
Describe the histological appearance of Crohn’s disease on biopsy
Patchy distribution (skip lesions), areas of healthy mucosa above diseased mucosa (cobblestone appearance), rosethorn ulcers, non-caseating granulomas, transmural inflammation
What is the first lesion in Crohn’s disease called?
Aphthous ulcer
Describe the histological appearance of ulcerative colitis on biopsy
Continuous mucosal involvement extending proximally from rectum, extensive superficial broad ulcers, mucosal inflammation, pseudopolyps from islands of regenerating mucosa (can fuse to form mucosal bridges)
Describe the typical presentation of Crohn’s disease
Intermittent diarrhoea, pain, fever
Describe the typical presentation of ulcerative colitis
Bloody, mucus-y diarrhoea, crampy abdominal pain relieved by defecation