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172 Cards in this Set

  • Front
  • Back
What is the gender difference of Hirschprung disease?
M:F = 4:1
Hirschprung disease:
__1__ of the colon proximally to an __2__ segment of the rectum
1. Dilation

2. aganglionic
Why does Hirschprung disease occur?
faulty migration of precursors of intestinal ganglionic cells
- develop from the neural crest and migrate into fetal intestine
What is there a lack of in Hirschprung disease?
Auerbach and Meissner plexuses
How is Hirschprung disease diagnosed?
Rectal biopsy looking for absence of ganglion cells
How does Hirschprung disease present clinically?
- delayed passage of meconium
- chronic constipation in a young child
What gene mutation is associated with Hirschsprung disease 50% of the time?
RET gene or RET ligand gene
What syndrome is Hirschsprung disease associated with?
Down syndrome
What other defects is Hirschsprung disease associated with?
Meckel diverticulum
What can be a cause of acquired Hirschsprung disease?
Chagas' disease and destruction of ganglion cells by leishmania
What is Meckel Diverticulum a remnant of?
Vitelline duct (Omphalomesenteric)
Describe the Four 2's in Meckel Diverticulum
- 2% of the normal population
- 2 feet from ileocecal valve
- 2 cm in length
- 2% symptomatic
- 2% of ectopic ulcers
Decreased blood flow and ischemia of the bowel secondary to Atherosclerosis with thrombosis, thromboembolism, or reduced cardiac output from shock
Ischemic Bowel Disease
What group of people is Ischemic Bowel disease most common in?
Older individuals
What vessel supplies blood to the Small intestine?
Superior Mesenteric Artery
Twisting of a segment of the bowel on its vasculature mesentery, resulting in intestinal obstruction and infarction
Where does Volvulus most often occur?
Sigmoid colon but also in the Small Intestines
Telescoping of a proximal segment of the bowel into the distal segment
In adults what can cause Intussusception?
Tortuous dilation of mucosal and submucosal blood vessels prone to rupture and bleeding
What parts of the Colon are most susceptible to ischemia?
Splenic flexure

Rectosigmoid junction
Where does Angiodysplasia most often occur?
Cecum and Right Colon
What age range is Angiodysplasia most common in?
> 50 yoa
What two diseases may Angiodysplasia be associated with?
Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome) = spider veins

CREST syndrome
What is the clinical presentation of Angiodysplasia?
Multiple episodes of Rectal bleeding
Varicose dilation of anal and rectal submucosal venous plexuses
What are 3 risk factors for Hemorrhoids?
1. Constipation and prolonged straining during pooping
2. Pregnancy
3. Cirrhosis = Portal Hypertension
Internal Hemorrhoid:
- Covered with what mucosa?
- What veins?
1. Rectal mucosa

2. Superior Hemorrhoidal veins
External Hemorrhoid:
- Covered with what mucosa?
- What veins?
1. Anal squamous mucosa

2. Inferior hemorrhoidal veins
How do Hemorrhoid patients present clinically?
streaks of bright red blood on hard stool
What are 5 complications of Hemorrhoids?
1. Bleeding
2. Thrombosis
3. Prolapse
4. Strangulation
5. Infection
Diarrhea: increased passage of feces including:
> 3-4 / day

> 250 g / day

Soft, fluid, watery
Low volume, bloody, painful diarrhea
Describe the cause of Osmotic Diarrhea
Caused by nonabsorbable osmotic substances in the intestinal lumen
List some examples of things that cause Osmotic Diarrhea
1. Mannitol or Sorbitol in Sugar-free gum
2. Magnesium salts
3. Milk with Lactase deficiency
Form of diarrhea where the intestinal cells secrete more water than they can absorb
Secretory diarrhea
List 4 causes of Secretory Diarrhea
1. Cholera toxin
2. E. coli toxin
3. Enteropathogenic viruses
- Norwalk, Rota
4. Vasoactive Intestinal Peptide
Describe Pancreatic cholera
Pancreatic VIPoma secreting massive amounts of VIP causing extensive SECRETORY Diarrhea
What are other names for Pancreatic cholera?

Verner-Morrison Syndrome

WDHA = watery diarrhea and resultant dehydration, hypokalemia, achlorhydria
Diarrhea that develops in the course of diseases that disrupt the intestinal layer or damage the mucosa
Exudative diarrhea
List some causes of Exudative diarrhea
1. Invasive bacteria
- Shigella and Salmonella
2. Amoebes
3. IBD
Cause of viral diarrhea in infants 6-24 months
Cause of viral diarrhea in epidemics, older children, or adults
Calicivirus = Norwalk virus
How does Cholera toxin work?
activates cAMP which causes Cl- secretion into intestinal lumen = water follows
Inadequate absorption of nutrients in the Small Intestine
Malabsorption syndromes
List the 3 modes of pathogenesis leading to Malabsorption syndromes
1. Defective intraluminal digestion
2. Mucosal dysfunction
3. Transport of nutrients across the mucosa and thru the lymphatics
List 4 things that can cause malabsorption due to defective intraluminal digestion
1. Pancreatic insufficiency
2. excess gastric acid production (Zollinger-Ellison Syndrome) = inactivates Pancreatic enzymes
3. Biliary obstruction
4. Bacterial overgrowth = deconjugation of bile salt
Excessive, large, sticky, stools that float = ?
Give some synonyms of Celiac disease (2)
1. Non-tropical sprue
2. Gluten-sensitive enteropathy
Hypersensitivity to Gluten (and gliadin), resulting in loss of small bowel villi and malabsorption
Celiac sprue
What is the genetic predisposition to having Celiac Sprue?
HLA-DQ2 (95%)
In Celiac disease, what are people hypersensitive to?
Gluten (gliadin)
What pathological changes are seen in a small intestinal mucosal biopsy in Celiac disease?
-flattening of villi
-elongation of crypts
-mucosal inflammation
What parts of the SI are most common affected in Celiac disease?
Proximal > Distal intestine > stomach
What other disease is Celiac disease associated with?
IgA-mediated Dermatitis Herpetiformis
What gender does Celiac disease most commonly affect?
Female (josh's girlfriend or ceCELIA)
What antibodies are found in 90% of patients with Celiac disease?
Anti-Endomysial Ab's
How does a person with Celiac disease clinically present?
Usually in childhood with Malabsorption and Steatorrhea
Longterm-wise, what does Celiac Disease increase the incidence of?
T-cell Lymphoma of the Intestines and Stomach
What is Whipple disease caused by?
Intracellular bacteria = Tropheryma whippelii
What gender and age group does Whipple Disease usually affect?
White males 30-60 yoa
What is the diagnostic feature of Whipple Disease?
- SI Lamina Propria contains numerous Macrophages leading to widening of the villi
- Macrophage stain with PAS or E.M. and contain bacteria (Tropheryma whippelii)
How does a patient present clinically with Whipple disease?
Chronic diarrhea with abdominal pain, polyarthralgia, skin pigmentation, and anemia
Rare infectious disease involving many organs, including small intestines, joints, lung, heart, liver, spleen, and CNS
Whipple disease
Why does malabsorption occur in Whipple disease?
obstruction of the lymphatics in the intestinal villi due to macrophages
What are the 2 types of Inflammatory Bowel Disease?
1. Ulcerative colitis

2. Crohn's disease
Systemic inflammatory disease of unknown etiology affecting predominantly the Colon and Terminal Ileum
Crohn Disease
What ethnicities/races are more often affected by Crohn's Disease?

Ashkenazi Jews
What age range does Crohn's disease affect most?
15-30 years old
What is the distribution of Crohn's disease?
Mouth to Anus but "discontinuous/skips"
What is the intestinal wall like in Crohn's disease?
Thickened and rigid = due to chronic transmural inflammation
Describe the lumen in Crohn's disease
Stenosis = "string sign" on barium studies
Describe the mucosa in Crohn's disease
Deep linear ulceration with cobble-stone like pattern
Describe the inflammation in Crohn's disease
Transmural chronic inflammation which leads to thickening of the intestinal wall
- covered with fat tissue under the serosa
List some complications of Crohn's disease
1. Fistulas
2. Obstructions
3. Adhesions
Are granulomas seen in Ulcerative colitis or Crohn's?
Crohn's disease
How does a person with Crohn disease clinically present?
-recurrent episodes of diarrhea
-tenesmus, cramps, blood in stool
- recurrences are common, last longer, with shorter and shorter asymptomatic intervals
Chronic systemic inflammatory disease of unknown etiology, predimonantly limited to the mucosa of the colon
Ulcerative colitis
What is the distribution and location of Ulcerative Colitis?
Ulceration begins in rectum and spreads proximally to involve the entire colon
- no skipped areas = continuous
Describe the inflammation in Ulcerative Colitis
limited only to the mucosa
Describe the gross appearance of Ulcerative Colitis
- extensive ulceration

- pseudopolyps
Remnants of normal or regenerating colonic mucosa surrounded by ulcerations = ?

What are they associated with?
Pseudopolyps in Ulcerative colitis

Ulcerative Colitis
Accumulation of neutrophils inside colonic crypts = ?

What are they associated with?
Crypt abscesses in Ulcerative colitis

Ulcerative Colitis
What is Toxic Megacolon?
Complication of Ulcerative Colitis
- massive dilation of the entire large intestine
List 5 Extraintestinal complications of IBD (Crohn's / UC)
1. Migratory polyarthritis
2. Iridiocyclitis = inflammation of eye and iris
3. Pyoderma gangrenosum = pus coming out of skin
4. Erythema nodosum = red nodules on skin
5. Primary sclerosing cholangitis = fibrosis around the common bile duct leading to jaundice
IBD that has a greater risk of developing cancer
Ulcerative colitis
Outpouching of mucosa and/or muscularis through a defect in the intestinal wall
What are the 2 types of Diverticulosis and where are they most often located?
1. Congenital = Small intestine

2. Acquired = Sigmoid colon
What parts of the world is Diverticulosis more common and why?
Developed nations due to constipation related to low-fiber diets
What is the etiology of Diverticulosis? (2)
1. straining during defecation

2. defect in the muscle layer
What are 3 complications of Diverticulosis?
1. Diverticulitis
2. Pericolitis = inflammation around the colon
3. Rupture
How does Diverticulitis clinically present?
1. "Left-sided appendicitis" = Left lower quadrant pain
2. Fever
3. Leukocytosis
What is the cause of Diverticulitis?
Stool impacted in the diverticulum sac
- bacteria = inflammation
- ischemia and ulceration
When a segment of the bowel becomes imprisoned within a hernia which can lead to intestinal obstruction and infarction
Incarcerated hernia
Fibrous tissue between 2 loops of bowel = ?
Lack of interstinal peristalsis associated with stagnation of intestinal contents = ?
Paralytic Ileus
What is the most common cause of Ileus?
Abdominal surgery
What would be a myopathic disease causing Ileus? Neuropathic?
Myopathic = Myasthenia

Neuropathic = Hirschsprung
Most common intestinal polyp
- small, dew-like, glistening nodules
Hyperplastic polyps
Where are Hyperplastic polyps most often found?
Rectum or Sigmoid colon
What are Juvenile polyps?
-Acquired hamartomas typically found in the rectum of children <10 yoa
-Pedunculated, round, with smooth surface
-Composed of mucus-filled cystic glands and edematous, inflamed stroma
What is the inheritance pattern of Peutz-Jeghers polyps?
Autosomal dominance
In Peutz-Jeghers Syndrome, what is also present besides the polyps?
Pigmented macules on the lips and perioral skin
Ulcerative colitis or Crohn's disease: inflammatory pseudopolyps?
Ulcerative colitis
List the 3 categories of Neoplastic Polyps
1. Tubular adenoma
2. Villous adenoma
3. Tubulovilous adenoma
Most common neoplastic polyp
Tubular adenoma (>90%)
What is the distribution of Tubular Adenomas?
equally distributed throughout the entire large intestine
What are Tubular Adenomas composed of?
Tubular glands lined by dysplastic columnar epithelium
What % of Tubular Adenomas give rise to Adenocarcinoma?
What is the risk of cancer in Tubular Adenomas proportional to?
Increasing size and number of polyps
Which neoplastic polyp has a greater tendency to transform to malignancy?
Villous (40% vs. 2-3%)
What is the appearance of Villous Adenomas?
Sessile (broad-based)
Larger than Tubular adenomas
Finger-like protrusions lined with Columnar epithelium
What do Villous adenomas secrete?
What is the normal size of Tubular adenomas?

What is the size of Villous Adenomas?
< 1 cm

~4 cm
What are Tubulovillous adenomas?
Tubular adenomas that contain villous parts
-represent an intermediate step between tubular and villous adenomas
What is the inheritance type of Familial Adenomatous Polyposis Coli?
Autosomal dominant
What is the cause of Adenomatous Polyposis Coli?
linked to the deletion of the tumor suppressor gene APC
What chromosome is the APC gene on?
T or F: all patients with Familial Polyposis develop tubular adenomas and cancer
With FAP, at what age is cancer found in 100% of patients?
by 40 yoa
What is performed in mid-life with people with Familial Adenomatou Polyposis Coli?
Prophylactic Colectomy
List the genes involved in the pathway from adenomatous polyps to cancer
1. loss of APC tumor suppressor
2. mutation of k-ras oncogene
3. loss of tumor suppressor gene p53
What mutation that leads to cancer does not involve adenoma precursor lesions?
DNA mismatch repair genes (MSH2)
What is the most common GI malignancy
Carcinoma of the large intestine
Variant of FAP with multiple osteomas, fibromatosis, and epidermal inclusion cysts
Gardner syndrome
Variant of FAP characterized by numerous colonic adenomatous polyps and CNS tumors (Gliomas)
Turcot Syndrome
What are the precursor lesions of Carcinoma of the Large Intestine?
How does a person with Right-sided Colon Cancer present?
1. occult blood in stool
2. Iron deficiency anemia
How does a person with Left-sided Colon Cancer present?
1. constipation or diarrhea
2. reduced caliber stools
What is the appearance of Left-sided Colon cancer?
Circumferential growth producing a "napkin-ring" configuration
What is the appearance of Right-sided Colon Cancer?
Exophytic or flat, broad-based lesion = Polypoid mass
List the parts of the Large Intestine where most carcinomas develop
1. Left-side = 55%
2. Right-side = 35%
3. Transverse = 10%
In a barium enema studies, what are Left-sided tumors described as looking like?
"apple-core" like lesions
How do Colorectal Cancer metastasize?
1. Lymphatic spread?
2. Hematogenous spread?
1. Mesenteric lymph nodes
2. Portal vein to liver
What are 3 risk factors associated with Colon Cancer?
1. high calorie intake
2. low-fiber food associated with constipation
3. high fat contect and refined sugars
-Glycoprotein secreted by fetal intestinal cells into the meconium
-Also secreted by Adenocarcinoma cells in the blood of patients with Colorectal Cancer
Carcinoembryonic Antigen (CEA)
Why is CEA not used for screening of persons at risk of developing Colon Cancer?
CEA test lacks specificity
What conditions are associated with elevated blood CEA? (5)
1. Colon Adenocarcinoma
2. Adenocarcinoma of Pancreas, Gallbladder, Lung
3. Ulcerative colitis and Crohn's Disease
4. Alcohol Cirrhosis
5. Smoking
Define Carcinoid tumors
Low-grade malignant tumors composed of Neuroendocrine cells often producing Serotonin
At what size do Carcinoid tumors metastasize?
> 2 cm
What are the most common locations of Carcinoid tumors of the GI?
1. Appendix = 40%
2. Rectum
3. Terminal Ileum
4. Stomach
How do you recognize Carcinoid tumors under EM?
Neuroendocrine granules
What 3 things can you stain with in Immunohistochemistry to identify Carcinoid tumors?
1. Neuropeptide hormones
2. Chromogranin
3. Synaptophysin
In Carcinoid tumors, which site rarely metastisizes?
Appendix Carcinoid tumors
What has to happen to produce Carcinoid Syndrome?
Metastasis to the Liver from the GI
What are the clinical features of Carcinoid Syndrome?
1. Facial flushing
2. Bronchospasm = wheezing
3. Cardiac fibrosis of Tricuspid and Pulmonic valve
4. Diarrhea
In Cardinoid tumors, what may be elevated in the urine?
5-hydroxylindolacetic acid (5-HIAA)
What are the most common sites of GI Lymphoma>
1. Stomach = 55%
2. SI = 25%
3. LI = 20%
What type of GI Lymphoma are 90% of the cases?
What are the risk factors for GI Lymphoma?
1. H. pylori
2. Celiac disease
3. Familial Mediterranean Fever
What are MALTomas?
Primary GI tumor that are low-grade malignant B-cell lymphomas originating from the Mucosa-associated Lymphoid Tissue
What are Gastrointestinal Stromal Tumors (GIST) sensitive to?
Sarcoma of smooth muscle = ?
Meckel Diverticulum
What is this?
Massive infarction leading to hemorrhaging

Obstruction of the Mesenteric Arter
What happened here?

What was the cause?
Pseudomembranous colitis
C. difficile
What is this?
What causes it?
Pseudomembrane in Pseudomembrane colitis
What is this showing?
Malabsorption Syndrome, given is the clinical tell the deficiency:
1. Growth retardation, muscle wasting, edema
2. Microcytic-hypochromic anemia
3. Macrocytic, megaloblastic anemia
4. Night blindness, Keratomalacia
5. Osteomalacia
6. Bleeding tendency
7. Tetany, paresthesia, secondary hyperparathyroidism
1. Protein
2. Iron
3. Folate / B12
4. Vitamin A
5. Vitamin D
6. Vitamin K
7. Calcium
Celiac disease causes atrophy of the villi leading to malabsorption
This is the Small Intestine...what is the pathology?
Crohn's b/c there is a Granuloma present
Is this Crohn's or Ulcerative Colitis? How do you know?
Ulcerative Colitis
- pseudopolyps are present
What is this?

Ulcerative colitis
Top = ?

Bottom = ?
Summary of Crohn's and Ulcerative Colitis
Toxic Megacolon

Ulcerative colitis
What is this called?

What caused it?
Sigmoid colon
Low-fiber diet
What is this?
Most common site?
Related risk factor?
Presumed cause?
What is this?
Autosomal dominant disease with multiple Hamartomatous polyps in the Small Intestine + melanin pigmentation on the Oral Mucosa
Peutz-Jeghers Syndrome
Tubular adenoma

Benign but transforms 2-3% of the time
What is this showing?

Benign or Malignant?
Villous Adenoma
What is this?
Familial Adenomatous Polyposis Coli
What is this?
Colorectal Adenocarcinoma
What is this?
Carcinoid tumor
What is this?