GI review
A 52 year old female comes to her physician because of generalized
itching, and a recent visit from her sister ended with an embarrassing
mention of her eyes looking a little yellow. Laboratory studies show
increased direct bilirubin and alkaline phosphatase. A liver biopsy
specimen shows granulomatous inflammation centered on on the bile
ducts within the portal spaces. Presence of which of the following would
best confirm the most likely diagnosis
A.
B.
C.
D.
E.
Antimitochondrial antibioidies
Decreased serum ceruloplasmin
Elevated liver enzymes
Markedly elevated hematocrit
PiZZ allele
Primary biliary cirrhosis
• Autoimmune disease leading to lymphocytic infiltration and
formation of granulomas
• Destruction of intralobular bile ducts--> can’t excrete conjugated
bilirubin
• Classically seen in women
• Characteristic: antimitochondrial antibodies
Contrast with primary sclerosing cholangitis
• Primary biliary cirrhosis would appear normal on ERCP imaging PSC
would look like beads due to alternating strictures and dilation
• While PBC has granulomas, PSC has onion skinning of the bile ducts
• PSC is classically in middle aged men
• PSC is associated with UC (KNOW. THIS.)
• Often p-ANCA positive
A 52 year old female comes to her physician because of generalized
itching, and a recent visit from her sister ended with an embarrassing
mention of her eyes looking a little yellow. Laboratory studies show
increased direct bilirubin and alkaline phosphatase. A liver biopsy
specimen shows granulomatous inflammation centered on on the bile
ducts within the portal spaces. Presence of which of the following would
best confirm the most likely diagnosis
A.
B.
C.
D.
E.
Antimitochondrial antibodies
Decreased serum ceruloplasmin
Elevated liver enzymes
Markedly elevated hematocrit
PiZZ allele
A 52 year old female comes to her physician because of generalized
itching, and a recent visit from her sister ended with an embarrassing
mention of her eyes looking a little yellow. Laboratory studies show
increased direct bilirubin and alkaline phosphatase. A liver biopsy
specimen shows granulomatous inflammation centered on on the bile
ducts within the portal spaces. Presence of which of the following would
best confirm the most likely diagnosis
A.
B.
C.
D.
E.
Antimitochondrial antibodies
Decreased serum ceruloplasmin
Elevated liver enzymes
Markedly elevated hematocrit
PiZZ allele
B- decrease serum ceruloplasmin: Wilson’s
Disease
• Mutation in a copper transportation gene on chromosome 13
• Can’t excrete copper into bile properly and incorporate it onto
ceruloplasmin (transport protein)
• Copper accumulates in liver (cirrhosis), brain (dysarthria, dystonia,
tremor) and Descemet membrane of cornea (Kayser Flescher rings)
• Classic lab findings: high serum copper (can’t excrete it) and low
serum ceruloplasmin
• Treat by chelating the copper with pencillamine or trientine
D- markedly elevated hematocrit:
Hemochromatosis
• Recessive mutation in HFE gene which normally sense iron loads and
tells the intestine to increase intestinal absorption of iron
• Labs: increased ferritin AND iron
• Iron accumulates in liver (cirrhosis), pancreas (diabetes), skin (bronze
skin), heart (restrictive cardiomyopathy), and joints (arthritis)
• Don’t get tripped up and think diabetes classic mimicker on Step. Check if
they have weird skin pigmentation or joint pain
• Usually doesn’t present until age 40
• Need to treat by repeated phlebotomy
E- PiZZ allele: alpha 1 antitrypsin deficiency
• Codominant trait that leads to misfolding of antitrypsin protein
• Aggregates in liver PAS (pink) globules in liver
• Normally should be working in the lungs to inhibit elastase breakdown of the
lungs
• Dyspnea and liver failure in a younger, previously healthy patient
should make you suspicious
34 year old woman comes to the physician because of abdominal
fullness and early satiety. She says her bowel habits have not changed
recently, but feels she has gotten more constipated over the years. A
radiographic series shows a circumferential lesion with associated
narrowing of the lumen in her sigmoid colon. A colonoscopy shows over
100 polyps. Mutation in what gene predisposed her to this condition?
A.
B.
C.
D.
E.
5q21
11p13
13q14
17q11
22q12
34 year old woman comes to the physician because of abdominal
fullness and early satiety. She says her bowel habits have not changed
recently, but feels she has gotten more constipated over the years. A
radiographic series shows a circumferential lesion with associated
narrowing of the lumen in her sigmoid colon. A colonoscopy shows over
100 polyps. Mutation in what gene predisposed her to this condition?
A.
B.
C.
D.
E.
5q21
11p13
13q14
17q11
22q12
34 year old woman comes to the physician because of abdominal
fullness and early satiety. She says her bowel habits have not changed
recently, but feels she has gotten more constipated over the years. A
radiographic series shows a circumferential lesion with associated
narrowing of the lumen in her sigmoid colon. A colonoscopy shows over
100 polyps. Mutation in what gene predisposed her to this condition?
A.
B.
C.
D.
E.
5q21
11p13
13q14
17q11
22q12
Familial adenomatous polyposis
• Mutation in APC on chromosome 5
• Autosomal dominant matter
• By age 40 nearly all of these patients will develop colon cancer and
thus undergo prophylactic colectomy
• Colon cancer on left side of colon looks like an “apple core” with constriction
and narrowing
• Colon cancer on the right side is associated with iron deficiency anemia, and
exophytic mass into the lumen
• CEA is a good tumor marker to watch for recurrence, NOT good for screening
Other polyposis syndromes
• Lynch (HNPCC)--> key thing would be early onset of colon cancer
without any previous polyps. Mutation in mismatch repair genes.
ALWAYS involves proximal colon
• Gardner: version of FAP that also has osseous and soft tissue tumors
• Turcot: version of FAP that has CNS tumors (sounds like turban)
• Peutz-Jeghers: hamartomas throughout the GI tract (mought, lips too)
and also on the genitalia
• Juvenile polyposis syndrome: hamartomatous polyps, typically
younger than 5 years old
54 year old female comes to the physician due to fatigue and difficulty
swallowing. Physical exam shows a smooth, red tongue. A CBC shows
microcytic, hypochromic anemia with an increased RDW. This patient is
at increased risk for developing which of the following conditions?
A.
B.
C.
D.
E.
Esophageal adenocarcinoma
Barrett esophagus
HSV esophagitis
CMV esophagitis
Esophageal squamous cell carcinoma
54 year old female comes to the physician due to fatigue and difficulty
swallowing. Physical exam shows a smooth, red tongue. A CBC shows
microcytic, hypochromic anemia with an increased RDW. This patient is
at increased risk for developing which of the following conditions?
A.
B.
C.
D.
E.
Esophageal adenocarcinoma
Barrett esophagus
HSV esophagitis
CMV esophagitis
Esophageal squamous cell carcinoma
54 year old female comes to the physician due to fatigue and difficulty
swallowing. Physical exam shows a smooth, red tongue. A CBC shows
microcytic, hypochromic anemia with an increased RDW. This patient is
at increased risk for developing which of the following conditions?
A.
B.
C.
D.
E.
Esophageal adenocarcinoma
Barrett esophagus
HSV esophagitis
CMV esophagitis
Esophageal squamous cell carcinoma
Plummer Vinson syndrome
• Atrophic glossitis with a beefy red tongue, iron deficiency anemia,
and esophageal webs
• This syndrome affects the proximal part of the esophagus so they are
at increased risk of SCC of the esophagus
• Remember, SCC of the esophagus involves the upper 2/3 since the epithelium
is stratified squamous
• Adenocarcinoma of the esophagus involves the lower 1/3 since that is where
columnar cells begin to appear
B- Barrett esophagus
• Metaplasia due to chronic reflux irritating the
epithelium
• Nonkeratinized stratified squamous changes to
nonciliated columnar with goblet cells
• Increased risk for adenocarcinoma (lower part of
esophagus)
C and D –HSV and CMV esophagitis
• HSV– punched out
• CMV– linear ulcers
• Can also get candida esophagitis-– white pseudomembrane
• This should only be happening in immunocompromised patients
• This should set you off to thinking they are either taking
immunosuppressant's or they have HIV
• Also know eosinophilic esophagitis– common in patients with
food allergies. Symptoms of GERD that don’t resolve with PPI.
See esophageal rings and linear furrows
SCC vs Adeoncarcinoma of the esophagus
• SCC upper 2/3
• Risk factors: alcohol, hot liquids, smoking, achalasia
• More common worldwide
• Adenocarcinoma lower 1/3
• GERD, Barrett esophagus, obesity, achalasia, smoking
• Common in US
Achalasia vs Sclerodermal esophageal dysmotility–
both cause dysphagia and increased risk of cancer!
• Achalasia is due to HIGH LES pressure (loss of
inhibitory neurons with VIP and no) and ABSENT
peristalsis
• Bird’s beak on barium swallow
• Sclerodermal involvement– smooth muscle atrophy
leading to LOW LES pressure
• Also have acid reflux symptoms
62 year old female with rheumatoid arthritis and no other
PMHx comes to the office complaining of severe epigastric
pain and vomiting of bright red blood. An endoscopy is
planned for tomorrow morning. What is the most likely cause
of this patients symptoms?
A.
B.
C.
D.
E.
Alcohol
NSAIDS
Brain injury
Burn injury
Uremia
62 year old female with rheumatoid arthritis and no other
PMHx comes to the office complaining of severe epigastric
pain and vomiting of bright red blood. An endoscopy is
planned for tomorrow morning. What is the most likely cause
of this patients symptoms?
A.
B.
C.
D.
E.
Alcohol
NSAIDS
Brain injury
Burn injury
Uremia
62 year old female with rheumatoid arthritis and no other
PMHx comes to the office complaining of severe epigastric
pain and vomiting of bright red blood. An endoscopy is
planned for tomorrow morning. What is the most likely cause
of this patients symptoms?
A.
B.
C.
D.
E.
Alcohol
NSAIDS
Brain injury
Burn injury
Uremia
Gastritis/peptic ulcer disease
• Acute gastritis
• NSAIDS decreased PGE2
production leading to decreased
protection of mucosa (can lead to
gastric ulcers)
• Alcohol exacerbates this
• Curling ulcer– burns lead to loss of
fluids and decreased perfusion to
the stomach and mucosal ischemia
• Cushing ulcer– brain injury leads to
increased vagal stimulation and
increased ACTH secretion which
increased acid production
• Chronic gastritis
• H pylori– antrum first
• Mucosal inflammation leading to
atrophy
• Decrease in HCl release which leads
to increase in gastrin release
increased risk for gastric cancer
• Increased risk peptic ulcers
• Autoimmune– body and fundus
• Antibodies to parietal cells or intrinsic
facto
• PERNICIOUS ANEMIA
PUD
• Gastric ulcer
• 70% due to H pylori, but also
think of NSAIDS
• Pain is GREATER WITH MEAL
(acid secretion)
• High risk of gastric carcinoma
• NEED to do a biopsy of
margins
• Hemorrhage generally is from
bleeding of right gastric
artery
• Peptic ulcer
• 90% due to H pylori, but also
consider oversecretion of
gastrin with ZE (especially is
multiple duodenal ulcers that
reach all the way to jejunum)
• Usually benign, no need for
biopsy
• Hemorrhage generally is due
to bleeding of
gastroduodenal artery
82 year old male with diffuse atherosclerotic disease presents
with sudden left lower abdominal pain with guarding. Within
24 hours he passes bright red blood mixed with stool. A
colonoscopy shows a diffusely necrotic descending colon.
Which of the following is the most probably cause of this
presentation?
A.
B.
C.
D.
E.
Acute arterial thrombotic occlusion
Arterial embolic occlusion of SMA
Bowel obstruction
Nonocclusive ischemia
Hypotensive ischemia
82 year old male with diffuse atherosclerotic disease presents
with sudden left lower abdominal pain with guarding. Within
24 hours he passes bright red blood mixed with stool. A
colonoscopy shows a diffusely necrotic descending colon.
Which of the following is the most probably cause of this
presentation?
A.
B.
C.
D.
E.
Acute arterial thrombotic occlusion
Arterial embolic occlusion of SMA
Bowel obstruction
Nonocclusive ischemia
Hypotensive ischemia
82 year old male with diffuse atherosclerotic disease presents
with sudden left lower abdominal pain. Within 24 hours he
passes bright red blood mixed with stool. A colonoscopy shows
a diffusely necrotic descending colon. Which of the following is
the most probably cause of this presentation?
A.
B.
C.
D.
E.
Acute arterial thrombotic occlusion
Arterial embolic occlusion of SMA
Bowel obstruction
Chronic atherosclerotic reduction in blood flow
Hypotensive ischemia
Colonic ischemia vs Acute mesenteric
ischemia vs chronic mesenteric ischemia
• Colonic ischemia
• Reduction in
intestinal blood
flow from
occlusion leads to
crampy abdominal
pain and
hematochezia
• Usually happens in
watershed areas
• Splenic flexure or
distal colon
• Acute mesenteric
ischemia
• Chronic mesenteric
ischemia
• Generally due to embolic
occlusion of SMA
• Acute abdominal pain
OUT OF PROPORTION TO
FINDINGS
• Red currant stools
• Generally due to chronic
atherosclerosis of SMA,
IMA
• Chronic hypoperfusion
leads to postprandial
epigastric pain and weight
loss– why??
A 65 year old male comes ot the physician with a 4 week history of
weakness and vague postprandial epigastric pain. He also notes that he
has lost 5 kg in the last 4 weeks. He smokes 1 pack of cigarettes daily
and drinks alcohol occasionally. FOBT is positive, and
gastroduodenoscopy shows an ulcer in the antrum with raised margins.
Biopsy of the ulcer is taken and likely to show what pathology?
A.
B.
C.
D.
E.
Mucin filled cells with peripheral nuclei
H. pylori infiltration
Gastric adenocarcinoma
Gastric carcinoid tumor
Hypertrophied rugae
A 65 year old male comes to the physician with a 4 week history of
weakness and vague postprandial epigastric pain. He also notes that he
has lost 5 kg in the last 4 weeks. He smokes 1 pack of cigarettes daily
and drinks alcohol occasionally. FOBT is positive, and
gastroduodenoscopy shows an ulcer in the antrum with raised margins.
Biopsy of the ulcer is taken and likely to show what pathology?
A.
B.
C.
D.
E.
Mucin filled cells with peripheral nuclei
H. pylori infiltration
Gastric adenocarcinoma
Gastric carcinoid tumor
Hypertrophied rugae
A 65 year old male comes to the physician with a 4 week history of
weakness and vague postprandial epigastric pain. He also notes that he
has lost 5 kg in the last 4 weeks. He smokes 1 pack of cigarettes daily
and drinks alcohol occasionally. FOBT is positive, and
gastroduodenoscopy shows an ulcer in the antrum with raised margins.
Biopsy of the ulcer is taken and likely to show what pathology?
A.
B.
C.
D.
E.
Mucin filled cells with peripheral nuclei
H. pylori infiltration
Gastric adenocarcinoma
Gastric carcinoid tumor
Hypertrophied rugae
Gastric cancers
• Most commonly adenocarcinomas
• Intestinal
• Associated with H. pylori, tobacco, nitrosamines, chronic gastritis
• See what looks like an ulcer with raised margins
• Diffuse
• Not associated with H pylori
• Classic pathology is signet ring cells and stomach wall grossly
thickened (linitis plastica)
Menetrier disease– rugae look like brain gyri
• Protein loss!
• Hyperplasia of the gastric mucosa leads to crowding
out of the parietal cells with decreased acid
production
• This is what causes the loss of ability to absorb protein
• Precancerous
A 15 year old male immigrant comes to the doctor complaining
of bowel movements that are pale and oily looking, and have
become increasingly foul smelling. He notes that he has
recently gotten many bloody noses, and that he remembers his
mom telling him as a child he always had sinus infections. What
pathological process is most likely associated with his
underlying disease process?
A.
B.
C.
D.
E.
Lactase deficiency
Villous atrophy seen on duodenoscopy
Improvement of villous atrophy with antibiotics
Infection with Tropheryma whipplei
Misfolded protein leading to decreased chloride secretions
A 15 year old male immigrant comes to the doctor complaining
of bowel movements that are pale and oily looking, and have
become increasingly foul smelling. He notes that he has
recently gotten many bloody noses, and that he remembers his
mom telling him as a child he always had sinus infections. What
pathological process is most likely associated with his
underlying disease process?
A.
B.
C.
D.
E.
Lactase deficiency
Villous atrophy seen on duodenoscopy
Improvement of villous atrophy with antibiotics
Infection with Tropheryma whipplei
Misfolded protein leading to decreased chloride secretions
A 15 year old male immigrant comes to the doctor complaining
of bowel movements that are pale and oily looking, and have
become increasingly foul smelling. He notes that he has
recently gotten many bloody noses, and that he remembers his
mom telling him as a child he always had sinus infections. What
pathological process is most likely associated with his
underlying disease process?
A.
B.
C.
D.
E.
Lactase deficiency
Villous atrophy seen on duodenoscopy
Transmural inflammation of the ileum
Infection with Tropheryma whipplei
Misfolded protein leading to decreased chloride secretions
Cystic Fibrosis causes pancreatic insufficiency
• Malabsorption of fat leading to steatorrhea
• Malabsorption of fat soluble vitamins and Vitamin B12
• Lack of vitamin K often leads to increased bleeding
• Will complain of chronic sinopulmonary infections
A- lactase deficiency
• Will not cause steatorrhea
• Normal appearing villi on endoscopy
• Osmotic diarrhea diarrhea improves when fasting starts
B- celiac disease
• Autoimmune intolerance of gliadin
• Malabsoprtion and steatorrhea
• Could also cause deficiency of fat soluble vitamins due to damage to intestine
• However would not see chronic pulmonary infections
• Lab findings: IgA anti tissue transglutaminase, anti endomysial, anti
deamidated gliadin
• Endoscopy findings villous atrophy and crypt hyperplasia
C- IBD, Crohn’s disease
• Transmural inflammation of any part of the GI tract
• Usually affects ileum leading to fat malabsorption and absorption of folic acid,
iron, or B12
• Cobblestone mucosa, creeping fat, FISSURES
• Generally leaves rectum alone
• Diarrhea may or may not be bloody, depending on location of lesions
• UC always bloody because always affects colon
• Treat with immunosuppresants (steroids, azathioprine) and
antibodies to TNF (adalimumab, infliximab)
D- Whipple disease
• Gram positive bug
• PAS + FOAMY macrophages in lamina propria leading to poor
absorption of fats
• Also get cardiac symptoms, arthralgias, and neurologic symptoms
IBS v IBD
• IBS should never have bloody diarrhea
• Key component should be that the pain is surrounding defecation
• Can have diarrhea or constipation
• Will NOT have other manifestations like in IBD– erythema nodosum,
uveitis, etc
Volvulus vs Intusseception vs Meckels
Diverticulum: all cause bleeding in little kiddos
• Volvulus
• Usually associated
with malrotation--ligament of treitz
misplaced
• In kids usually in the
midgut
• Key component would
be abdominal
distension and bilious
vomiting as well
• Intestinal ischemia
from twisting of
vessels would lead to
bloody stools
• Meckels diverticulum
• Embryonic remnant, and if
contains ectopic gastric or
pancreatic tissue can cause
erosion of surrounding
mucosa
• Usually in kids around 2
years old
• Painless bloody stools
• Intussusception
• Telescoping of one portion
of bowel into another
• Crampy abdominal pain
that is periodic
• Bloody stools is a late sign
• In children usually
associated with recent
infection and hypertrophy
of Peyer’s patch
• Note– if seen in
adolescence of older, this is
lymphoma until proven
otherwise