Pathology - GI Tract Flashcards
(168 cards)
1
Q
What clinical signs may point to a tracheoesophageal fistula?
A
Aspiration, suffocation, fluid and electrolyte imbalance
2
Q
Most common form of intestinal atresia?
A
imperforate anus
3
Q
Most frequent site of ectopic gastric mucosa?
A
upper third of esophagus (called an inlet patch)
4
Q
Most common type of diverticulum? How does it present?
A
Meckel’s; painless rectal bleeding
5
Q
Rule of 2’s for Meckel’s:
A
occurs in 2% of population presents within 2 feet of ileocecal valve about 2 inches long 2x as common in males symptomatic by age 2
6
Q
Meckel’s is a failed formation of what structure?
A
vitelline duct
7
Q
What is a common feature between Turner Syndrome and Trisomy 18?
A
Pyloric stenosis
8
Q
What causes pyloric stenosis?
A
exposure to erythromycin or azithromycin
9
Q
Clinical presentation for pyloric stenosis?
A
regurgitation, projectile, non-bilious vomiting
physical exam shows “olive like mass”
10
Q
What common developmental abnormality of the colon appears in Down Syndrome?
A
Hirschsprung disease
11
Q
What is lacking in Hirschsprungs?
A
Ganglions - myenteric, submucosal plexuses are gone
12
Q
Genetic mutation in Hirshsprungs?
A
RET gene (penetrance is incomplete)
13
Q
Clinical presentation of Hirschsprungs?
A
Failure to pass meconium in postnatal period
followed by constipation, ineffective peristalsis
14
Q
What are some causes of acquired megacolon?
A
Chagas disease, obstruction, visceral myopathy
15
Q
Which functional obstruction of the esophagus presents with high amplitude contractions?
A
Nutcracker esophagus - caused by drinking something very hot or very cold
16
Q
Which functional obstruction of the esophagus presents with high frequency contractions?
A
diffuse esophageal spasm
17
Q
Impaired relaxation and spasm of the cricopharyngeus muscle may lead to?
A
Zenker diverticulum
18
Q
How does Zenker’s present?
A
After age 50, large ones may cause regurgitation and bad breath
19
Q
Name the syndrome: anemia, glossitis (beefy, red tongue), cheilosis, fissures at edge of mouth, esophageal webs
A
Plummer-Vinson Syndrome
nonprogressive dysphagia for solids
20
Q
Triad for achalasia?
A
Incomplete LES relaxation
increased LES tone
aperistalsis of the esophagus
21
Q
Primary achalasia caused by?
A
neuronal degeneration of the vagus nerve or the dorsal motor nucleus
22
Q
Secondary achalasia caused by?
A
Chagas disease, diabetic neuropathy, sarcoidosis, Down syndrome, Sjogren’s syndrome
23
Q
Radiograph shows bird beak pattern in the esophagus - diagnosis?
A
Achalasia
24
Q
What are Mallory-Weiss tears?
A
Longitudinal mucosal tears due to prolonged retching or vomiting (mostly due to alcohol), presents as hematemesis
25
What are the key features of Boerhaave syndrome?
Mostly seen in alcoholics, much less common, transmural tears, perforation of the esophagus
Other signs: crunching sound (Hammans sign), cardiac tamponade
26
Who is most at risk for infectious esophagitis?
immunocompromised
27
How do you differentiate between HSV and CMV esophagitis?
HSV: punched out ulcers, nucelar viral inclusions, epithelium
CMV: shallow ulcers, nucelar AND cytoplasmic inclusions, endothelium
28
Most common cause of esophagitis?
Reflux (GERD)
29
Features of eosinophilic esophagitis?
Intraepithelial eosinophils, patients are atopic (dermatitis, asthma)
dietary restrictions help this, may need steroids
30
Consequence of portal hypertension, in the esophagus?
Varices --> submucosal veins
31
Morphology/presentation of esophageal varices?
Caput medusa on the stomach, tortuous dilated veins, hemorrhage
32
Diagnostic features of Barrett's esophagus?
red, velvety mucosa on endoscopy
| stains for mucous vacuoles show pale blue figures that look like WINE GOBLETS
33
Genetic mutations in esophageal adenocarcinoma:
TP53, CDKN2A, EGFR, MET, cyclin D1
34
What decreases risk for esophageal adenocarcinoma?
Diets rich in fruits/veggies
| serotypes of H. pylori can be protective
35
What type of esophageal cancer is more likely in males?
BOTH: adeno (7x) and SCC (4x)
36
Where is adenocarcinoma more likely to occur?
Distal 1/3 of the esophagus
37
Morphology of adenocarcinoma?
Mucin (+) and glands, sometimes signet ring cells
38
What are risk factors for SCC?
alcohol, tobacco, achalasia, tylosis, plummer-vinson, radiation
39
What is tylosis?
genetic disorder with hyperkeratosis, mutation in RHBDF2
40
Genetic abnormalities in SCC?
SOX2, cyclin D1, TP53, NOTCH1
41
Which esophageal cancer are African Americans more at risk for?
SCC
42
Where is esophageal SCC most likely to develop?
Middle 1/3 of esophagus
43
Morphology of SCC?
Exophytic, polypoid, small, gray
44
Clinical presentation of SCC?
dysphagia, odynophagia, weight loss, hoarseness
45
Most likely causative agents of acute gastritis?
NSAIDs, alcohol, stress, bile, H. pylori, high altitudes, elderly
46
Morphology of acute gastritis?
neutrophils above the basement membrane, may see erosions and hemorrhage
47
What causes curling ulcers?
severe burns and trauma
48
Who is most susceptible to cushing ulcers?
people with intracranial disease who develop ulcers - high risk of perforation
49
Stress ulcers may be seen in ICU patients - how might we treat them?
May need a transfusion
50
When the submucosal artery doesn't branch properly, what forms?
Dieulafoy lesion - most commonly on the lesser curvature, associated with NSAID use
51
Another non-stress related bleeding disorder that causes longitudinal stripes of erythematous and pale mucosa, may have fibrin thrombi - diagnosis?
GAVE - gastric antral vascular ectasia
52
Two types of chronic gastritis?
H. pylori and autoimmune
53
Morphology of H. pylori chronic gastritis?
Most likely affects the antrum, may see toxin CagA
African and Mexican ethnicity most common
local gastrin increases, but NOT serum gastrin
Neutrophilic infiltrates
54
Important relationship between CagA and cancer?
If you have CagA, you probably don't have cancer (protective strain)
55
Best staining for H. pylori? Other tests?
Warthin-Starry silver stain
| Urease breath test, gastric biopsy, serologic for Ab
56
Major complication from H. pylori chronic gastritis?
Thickened rugal folds - may be due to MALToma
57
What characterizes autoimmune gastritis?
Antibodies to IF and parietal cells
Vitamin B12 deficiency
No gastric acid secretion
58
Clinical presentation of autoimmune gastritis?
Hypergastrinemia - high levels in serum
pernicious anemia
loss of parietal and chief cells --> mucosa is thin, loss of rugal folds
lymphocytic infiltrates
59
Lab tests for autoimmune gastritis?
Immunostains for chromogranin A
| antibodies to parietal cells and IF
60
Clinical presentation for autoimmune gastritis?
Median age = 60
| other autoimmune diseases present (thyroiditis, diabetes, Graves, vitiligo)
61
Most common location for PUD?
proximal duodenum
62
How might PUD perforation look on a radiograph?
Free air under the diaphragm
63
Major complications of PUD:
Bleeding (majority), perforation (most common cause of death by ulcer), obstruction
64
What are you at risk for once intestinal metaplasia happens?
This means the gastritis is turning to adenocaricnoma - high risk with autoimmune gastritis
65
What conditions should you associate with cerebriform enlargement of the rugal folds?
Menetrier's Disease and Zollinger-Ellison
66
Name the condition: diffuse hyperplasia of mucus cells, excess TGF-alpha, hypoproteinemia
Menetrier's Disease
67
How do you treat Menetrier's disease?
Supportive therapy - give albumin, nutrients, may consider gastrectomy
68
Name the condition: tumor in the pancreas secretes excess gastrin, patient may have duodenal ulcers, chronic diarrhea
Zollinger-Ellison
69
What condition is Zollinger-Ellison associated with 25% of the time, presenting with multiple tumors?
MEN I -- give somatostatins
70
Percentage of Zollinger-Ellison that are malignant?
60-90%
71
Most common malignancy of the stomach?
gastric adenocarcinoma
72
Morphology of the intestinal type of gastic adenocarcinoma?
More common - forms bulky masses
73
Morphology of the diffuse type of gastric adenocarcinoma?
linitis plastica - infiltrates the walls and composed of signet ring cells, desmoplastic
74
Most common metastases of gastric adenocarcinoma?
LIVER
other places: virchow node, Sister Mary Joseph node (intestinal), Irish node, Krukenburg tumor in the ovary (diffuse)
75
Genetic mutations in gastric adenocarcinoma?
CDH1, TP53, Wnt pathway (APC, B-catenin)
76
Most common site for extranodal lymphom?
GI tract - stomach
77
Translocations associated with MALTomas?
t(11;18): API2 and MLT
t(1;14): BCL-10
t(14;18): MALT1
78
Diagnostic features of MALTomas?
Lymphoepithelial lesions in lamina propria
79
How can you identify a carcinoid tumor?
CD56+, yellow/tan in color, very firm, most are found in the GI tract
80
What makes up carcinoid syndrome?
tumors in the ileum, flushing, sweating, diarrhea, cardiac valvular fibrosis
81
Most common mesenchymal tumor of the abdomen?
GIST - GI stromal tumor
82
What cells do GISTs arise from?
Interstitial cells of Cajal
83
What triad of symptoms appear in children with GISTs?
Carney Triad - gastric GIST, paraganglioma, pulmonary chondroma
84
Which genes are mutated in GIST tumors?
KIT (more likely)
| PDGFRA (less likely)
85
Which set of genes confer risk for GIST?
Mitochondrial succinate dehydrogenase complex (SDHA thru D)
86
Name the tumor: whorled appearance, spindle cells ad epithelioid cells, KIT+
GIST
87
What drug specifically targets KIT and PDGFRA (because they're tyrosine kinases)?
Imatinib
88
Most common intestinal obstruction worldwide?
hernias
89
Most common intestinal obstruction in the US?
adhesions
90
Most common intestinal obstruction in kids < 2?
intussusception
91
What are the stages of hernia formation?
Herniation - Incarceration/Entrapment - Strangulation - Infarction
leads to external herniation
92
Consequence of adhesions?
Loops form internal herniations
93
What is a volvulus?
large twist of a loop of bowel - mostly sigmoid
94
How do you diagnose and treat intussusception?
Enema first, surgery if needed
95
Most common cause of intussusception in kids?
Rotavirus vaccine/infection side effect
96
Intestinal segment vulnerable to transmural infarcts?
Splenic flexure
97
Morphology of transmural infarction in the colon?
Turns from dusky, to purple/red
| coagulative necrosis within a few days
98
When to suspect infarctions of the bowel?
Bloody diarrhea, desire to defecate, cramping
99
Last resort diagnosis for GI massive blood loss - presents in 6th decade?
Angiodysplasia - most commonly in cecum or right colon, seen with nests of tortuous veins
100
Hallmark clinical symptom of malabsorption?
Steatorrhea
101
Examples of intraluminal digestion issues:
chronic pancreatitis, CF, primary bile acid absorption, inflammatory bowel disease
102
Examples of terminal digestion issues:
Celiacs, environmental, autoimmune, disaccharide, all of the infectious types
103
Example of lympathic transport issues:
Whipple Disease
104
What types of diarrhea gets better with fasting?
osmotic and malabsorptive diarrhea
105
What molecule from gluten plays an essential role in Celiac's?
Gliadin
106
Which HLA subtypes are significant for Celiac's?
HLA DQ2 and DQ8
107
Key morphological features of Celiac's:
Increased CD8+ (intraepithelial lymphocytosis)
| villous atrophy
108
Antibodies in Celiac's?
Anti-endomysical (EMA) and anti-TTG
109
Age in adults and age in children for Celiac:
Adults: 30-60 years
Children: 6-24 months
110
Which malignancy are Celiac patients most at risk for?
Enteropathy-associated T cell lymphoma
111
Main locations for tropical sprue:
Sub-saharan Africa, Caribbean
112
How can you tell someone has tropical sprue?
Hard because there are no specific findings for this - look for travel, possibly irreversible cognitive deficits, stunted growth malabsorption
113
What is IPEX, and what does it stand for?
X-linked autoimmune disease in children
IPEX = immune dysregulation, polyendocrinopathy, enteropathy, X-linkage due to FOXP3 gene
114
Two causes of lactase deficiency?
1. Congenital - recessive, presents with exploding diarrhea, treat with milk-free diet
2. Acquired - after infections (giardia), presents with abdominal fullness, flatulence, diarrhea
115
Condition in which you cannot secrete triglyceride-rich lipoproteins?
Abetalipoproteinemia - presents in infancy
116
Biopsy finding in abeta?
Lipid accumulation in enterocytes
117
Diagnostic tests for abeta?
NO plasma LDL, VLDL
Oil red-O detects triglyceride accumulation
peripheral blood smears show acanthocytic red cells (burr cells)
118
Rice water diarrhea with fishy odor caused by comma-shaped gram-negative bacteria?
Cholera
119
Organism responsible for some Guillain-Barre syndrome?
Campylobacter enterocolitis
120
Which people are most likely to develop reactive arthritis with a campylobacter infection?
those with HLA-B27
121
Most common cause of bloody diarrhea?
Shigellosis - gram negative, nonmotile
122
What system does Shigella's toxin utilize?
Type III secretion system --> taken up by M cells
123
Possible complications of Shigellosis?
HLA-B27 people - reactive arthritis, urethritis, conjunctivitis
hemolytic-uremic syndrome
toxic megacolon
124
Why are antidiarrheal meds contraindicated in Shigellosis infection?
Giving antibiotics will cause cells harboring bacteria to break down and release the Shigella toxins -- worsens the condition
125
Who becomes a chronic carrier of Salmonella typhi/paratyphi?
Organisms can colonize in the gallblader and cause gallstones - makes that person a carrier
126
Clinical presentation of S. typhi?
Anorexia, pain, bloating, bloody diarrhea - goes into asymptomatic phase - then comes back as flu-like syndrome
127
What complication are sickle cell patients more susceptible to in Salmonella?
Salmonella osteomyelitis
128
Infectious colitis that mimic appendicitis?
Yersinia (prefers right side)
129
What causes pseudomembranous colitis?
C. diff.
130
C. diff has pathognomic histology - what is it?
Surface epithelium DENUDED
neutrophilic infiltrate
exudate in crypts that looks like a volcano
131
Key morphology in Whipple disease?
Foamy macrophages, PAS+, shaggy mucosa, white plaques
132
Characteristic triad of Whipple disease?
Diarrhea, weight loss, and arthralgia
133
Which worm can be detected by cellophane tape?
Enterobius vermicularis
134
Which worm can cause B12 deficiency?
D. latum
135
What does giardia look like?
Pear shaped, with two equally sized nuclei
136
Most common enzyme deficiency in giardia?
Lactase
137
Two types of Irritable Bowel Syndrome:
```
diarrhea = increased colonic contractions
constipation = decreased contractions
```
138
Rome Criteria for IBS:
occurrence 3 days per month for 3 months
improves following defecation
change in stool frequency or form
139
Which condition presents with perianal fistulas?
Crohn disease
140
Which condition can lead to toxic megacolon?
ulcerative colitis
141
Which (UC or CD) has a higher concordance rate for identical twins?
CD (50%)
142
Morphology of CD:
Transmural INFLAMMATION
skip lesions, strictures, creeping fat
PATCHY and COBBLESTONE
noncaseating granulomas
143
Extraintestinal manifestatins of CD:
uveitis, erythema nodosum, clubbing
144
2.5-7.5% of UC patients also develop:
primary sclerosis cholangitis
145
UC is a relapsing disorder of:
bloody diarrhea, lower abdominal pain, and cramps relieved by defecation
146
Which (UC or CD) is associated with pANCA?
UC
147
Which (UC or CD) is associated with ASCA?
CD
148
Name the colitis: presents as chronic, nonbloody, watery diarrhea in a middle-aged women with a dense subepithelial collagen layer on biopsy
Collagenous type of microscopic colitis
149
Most common neoplastic polyp?
Adenoma
150
Morphology of hyperplastic polyps?
Seen at 60-70 years old
accumulation of goblet cells + serrated edge
NO malignant potential
151
What is involved in solitary rectal ulcer syndrome?
Inflammatory polyps - presents as rectal bleeding, mucus discharge, and inflammatory lesions
152
How do juvenile polyps usually present?
In children under 5
present as intussusception, polyp prolapse, rectal bleeding
in genetic cases - high risk for colonic adenocarcinoma
153
Genetic mutations in juvenile polyps?
SMAD4 and BMPR1A
154
What are the two main features of Peutz-Jegher syndrome?
```
Multiple GI hamartomatous polyps
mucosal hyperpigmentation (dark, brown/blue spots)
```
increased risk of several types of adenocarcinoma
155
Genetic mutation in Peutz-Jegher?
STK11
156
What feature of polyps determines potential for malignancy?
SIZE
157
FAP is mainly caused by mutations in what gene? Part of what pathway?
APC; Wnt pathway
158
How many polyps needed to diagnose classic FAP?
100, but often reaches thousands
159
How can you diagnose FAP at infancy?
Congenital hypertrophy of retinal pigment epithelium
160
Genetic mutations in HNPCC?
MSH2 or MLH1
161
Most common malignancy of the GI tract?
Adenocarcinoma
162
Genetic pathways found in adenocaricnoma?
APC/B-catenin pathway
| Microsatellite instability pathway
163
Classic adenoma-carcinoma squence shows what progression of genetic mutations?
first APC, then KRAS, then SMAD4
164
Who usually gets the microsatellite instability type?
Younger than 50 (think HNPCC)
| won't have staining for mismatch repair genes
165
How do tumors on the right versus left of the colon differ?
Right (proximal): polypoid, exophytic, rarely cause obstruction
Left (distal): annular, napkin-ring constrictions
166
If an elderly person presents with iron deficiency anemia?
Assume GI cancer until proven otherwise
167
Where are curling ulcers located?
STOMACH
168
Well circumscribed, smooth nodules in the body and fundus - made of parietal and chief cells.
Fundic gland polyps
