Gastrointestinal Flashcards
Cleft Lip and Palate
Failure of FACIAL PROMINENCES to fuse
usually occur together
Aphthous Ulcer
Painful, superficial ulceration of the oral mucosa
Arises in relation to stress and resolves spontaneously but can recur
has a grayish base (granulation tissue) surrounded by erythema
Behcet Syndrome
Recurrent apthous ulcers along with genital ulcers and uveitis
is an IMMUNCE COMPLEX VASCULITIS of small vessels
Sometimes seen after viral infection but etiology is unknown
Oral Herpes
Vessicles of oral mucoa that rupture and become shallow painful, red ulcers
HSV-1
Primary infection in childhood but virus lies dormant in ganglia of trigeminal nerve and reactivated by stress and sunlight
Squamous Cell Carcinoma of Oral Mucosa
Malignant neoplasm of squamous cells of oral mucosa usually on floor of mouth
risk factors = SMOKING and ALCOHOL
Oral leukoplakia and erythroplakia are precursor lesions
Leukoplakia
white plaque that can NOT be scraped away
often represents squamous cell DYSPLASIA
Oral Candidiasis/thrush
white deposit that is EASILY scraped away.
See in immunocompromised
Hairy Leukoplakia
white, rough patch that arises on LATERAL tongue
due to EBV induced squamous cell HYPERPLASIA
NOT pre-malignant
immunocomprimised/AIDS
Erythroplakia
red plaques representing vascualrized leukoplakia is highly suggestive of squamous cell DYSPLASIA
Mumps
usually presents as BILATERAL inflamed parotid glands
Orchitis (risk of sterility), pancreatitis, and aseptic meningitis also can be present
Serum amylase is INCREASED
Sialadenitis
inflammation of salivary gland commonly due to obstructing stone (sialolithiasis) leading to staph aureus infection
usually UNILATERAL
Pleomorphic adenoma
most common benign biphasic tumor comprised of stromal (cartilgae) and epithelial tissue
usually in PAROTID
Presents as mobile, painless, circumscribed mass at the angle of the jaw
high rate of reccurence because it has irregular borderes and an inexperienced surgeon might not get out the whole tumor
rarely may transform into carcinoma and begin to show signs of facial nerve damage
Warthin Tumor
Benign cystic tumor with abundant lympocytes and germinal centers
almost always arises in the parotid
2nd most common
Mucoepidermoid Carcinoma
Malignant tumor of mucinous and squamous cells usually arising in the parotid
commonly affects the facial nerve that runs through the parotid
most common malignant tumor
Tracheoesophageal fistula
Congenital defect with connection between esophagus and trachea
most common variant is proximal esophageal atresia with distal esophagus arising from the trachea. Causes vomiting, polyhydraminos, abdominal distnesion and aspirtatin
Esophageal Web
Thin protrusion of esophageal mucosa (usually in UPPER esophagus)
Presents as dysphagia of poorly chewed food
increased risk for esophageal squamous cell carcinoma
seen in plummer vinson syndrome
Plummer Vinson Syndrome
Severe iron deficiency, esophageal web, beefy-red tongue due to atrophic glossitis
Zenker Diverticulum
Outpouching of pharyngeal mucosa through acquired defect in the muscular wall (false diverticulum)
Usually occurs at the junction of the esophagus and pharynx
presents with dysphagia, obstruction, and halitosis
Mallory-Weiss Syndrome
Longitudinal laceration of mucosa at the gastroesophageal junction
see in ALCOHOLICS and BULIMICS that vomit a lot
presents as PAINFUL hematemsis
Risk of Boerhaave syndrome where the esophagus ruptures and lets air into the medistinum and get a subcutaneous emphysema (air bubbles and rice krispy sounding skin)
Esophageal Varices
Dilated submucosal veins in the lower esophagus arising secondary to portal hypertension (esophageal v drains into left gastric v that drains into portal v so when all back up get varices)
Asymptomatic but if it ruptures get PAINLESS hematemesis which is the most common cause of death in cirrhosis since these patients also have a coagulopathy
Achlasia
Disordered esophageal motility with inability to relax the lower esophageal sphincter (LES).
happens when you damage the ganglion cells in the myenteric plexus (which lies between the inner circular and outer longitudinal muscularis propria) which can occur idiopathically or secondary to something like trypansomoa cruzi infection in Chagas)
Clinical features include: BIRD BEAK sign on barium swallow design, dysphagia with solids and liquids, putrid breath, high LES pressure on esophageal monometry.
They are at increased risk for esophageal squamous cell carcinoma
GERD
Reduced LES tone allows acid from stomach to reflex up to esophagus
alcohol, tobacco, obesity, high fat diet, caffeine, and hiatal hernia all are risk factors
Clinically can present with: heartburn, cough, adult onset asthma, damage to enamel of teeth,
ulceration with stricture and barret esophagus are late complications
Barret Esophagus
METAPLASIA of lower esophagus mucose from stratified squamous epithelium to nonciliated columnar epithelium with goblet cells
May progress to dysplasia and adenocarcinoma
Adenocarcinoma of esophagus
malignant proliferation of glands that arrises from preexisting barret esophagus.
LOWER 1/3
so tends to spread to celiac and gastric nodes
Tends to resent late with progressive dysphagia (initially jsut solids but then also liquids)
Squamous cell carcinoma of esophagus
Malignant proliferation of squamous cells,
Usually arises in UPPER 1/3 (so spreads to cervical nodes)
Risk factors include alcohol, tobacco, hot tea, achlasia, esophageal web, lye ingestion
Tends to present late with progressive dysphagia (initially jsut solids but then also liquids)
Can present with hoarse voice (recurrent laryngeal nerve) and cough (tracheal involvement)
What lymph nodes the 1/3’s of the esophagus spread to
Upper 1/3 = cervical
Middle 1/3 = mediastinal and tracheobronchial
Lower 1/3 = celiac and gastric nodes
Gastrochisis
Congenital mlaformation of anterior ab wall, exposing the abdominal contents
Omphalocele
Persistent herniation of bowel into umbilical cord due to failure of herniated intestines to return to body cavity during development. Contents are covered by peritoneum and amnion of the umbilical cord.
Pyloric Stenosis
Congenital hypertrophy of pyloric smooth muscle that classically presents 2 weeks after birth as projectile NONBILIOUS vommiting, visibile peristalisis, and a olive like mass in the abdomen.
Acute Gastritis
Acidic damage to the stomach mucosa from either too much acid or too little protection
Defenses include mucin from foveolar cells, bicarb by surafce epithelium, and normal blood supply
acid damage results in superficial inflmmation, eorision (loss of superficial epithelium) or ulcer (loss of mucosal layer)
risk factors include
1) Severe Burn = curling ulcer = hypovolemia leads to decreased blood supply
2) NSAIDS
3)Heavy alcohol consumption
4)chemo)
5)increased intracranial pressure = cushing ulcer = increased stimulation of the vagus nerve leads to icnreased acid production
6) shock = stress ulcers due to low blood flow
curling ulcer
ulcer seen after a severe burn where person becomes hypovolemic and cant defend itself with good blood supply
cushing ulcer
ulcer seen in patients with increased intracranial pressure that causes vagus nerve to fire excessively and increase acid production
Chronic autoimmune Gastritis
Autoimmune destruction of gastric parietal cells that are located in the FUNDUS and the BODY of the stomach
damage is done by T cells and is a Type IV hypersensitivity
see
1) atrophy of mucosa with intestinal METAPLASIA
2) ACHLORHYDRIA with increased gastrin levels and G-cell hyperplasia
3) Megaloblastic/pernicious anemia due to lack of intrinsic factor from pariteal cells so decreased B12 absorption
4) Increased risk for gastric adenocarcinoma (intestinal type)
Chronic H Pylori Gastritis
H pylori ureases and proteases along with inflamatio nweaken the mucosal defenses
ANTRUM is most common site
Presents with epigastric abdominal pain,
increased risk for ulceration (peptic ulcer disease), gastric adenocarcinoma (intestinal type) and MALT lymphoma
Treat with TRIPLE THERAPY
Peptic Ulcer Disease
solitary mucosal ulcer involving the proximal duodenum or distal stomach
duodenal ulcers are almost never malignant
Malignant Ulcers will be large and irregular with heaped up margins
Benign ulcers are small, “punched out” and surrounded by radiating folds of mucosa
Duodenal Ulcer
almost always due to h pylori but can also be due to ZE syndrome
Preents with epigastric pain that IMPROVES with meals
endoscopy finds duodena ulcer with hypertrophy of BRUNNER GLANDS
usually arises in the anterior duodenum but if in posterior then risk of rupture and bleeding from gastroduodenal artery or pancreatitis
almost never malignant
Gastric Ulcer
usually from H pylori but also caused by NSAIDS or bile reflux
Presents with epigastric pain that WORSENS with meals
usually located on lesser curvature of the antrum
rupture carries risk of bleeding from left gastric artery
can be caused by gastric carcinoma. Malignant Ulcers will be large and irregular with heaped up margins
Gastric Carcinoma Intestinal type
Malignant Proliferation of surface epithelial cells (adenocarcinoma)
large irregular, ulcer with heaped up margins
usually involves lesser curvature of the stomach
risk factors include intestinal metaplasia (from h pylori or autoimmune gastritis) nitrosamines from smoked foods (japan) and BLOOD TYPE A
presents late with weight loss, ab pain, anemia, early satiet, and rarely acanthosis nigricans or Lesler-Trelat signs
spreads to L supraclavicular node (virchow node)
distant mets to liver is most common. Can also met to periumbilical region (sister mary nodule)
Gastric Carcinoma Diffuse Type
Malignant Proliferation of surface epithelial cells
characterized by signet ring cells that diffusely infiltrate the gastric wall
desmoplasia results in thickneing of the stomach wall (linitis plastica)
presents late with weight loss, ab pain, anemia, early satiet, and rarely acanthosis nigricans or Lesler-Trelat signs
spreads to L supraclavicular node (virchow node)
distant mets to liver is most common. Can also met to bilateral ovaries as krukenberg tumor
duodenal atresia
congenital failure of duodenum to canlaize
seen commonly in DOWN SYNDROME
present with polyhydraminos, distension of stomach, “double bubble” sign and BILIOUS vomiting
Meckel Diverticulum
Outpouching of all THREE layers of the bowel wall doe to failure of vitaline duct to involute
Rule of 2s = 2% of population, 2inches long in small bowel 2 feet from ileocecal valve, can present in first 2yrs of life with bleeding, volvulus, intussuscpetion, or obstruction
Volvulus
Twsiting of the bowel along its mesentery
results in obstruction and disruption of the blood supply with infarction
elderly = sigmoid colon
young adults = cecum
Intussusception
Telescoping of the proximal segment of bowel foreward into distal segment and results in obstruction and disruption of blood supply leading to infarction (currant jelly stools)
leading edge of adults = tumor
leading edge in children = lymphoid hyperplasia (after rotavirus). Usually arises in terminal illeum being pulled into the cecum sincethis region has lots of peyers patches
Small Bowel Infarction
Highly suscpetible to ischemic injury since needs lots of ATP for absorption
transmural infarction occurs with thrombosis.embolism (from a fib, vasculitis) of suerpior mesenteric artery or thrombosis of the mesenteric vein (polycythemia vera or lupus anticoagulant)
present with abdominal pain, bloody diarrhea, and decreased bowel sounds
Lactose intolerance
Decreased function of lactase enzymes in brush border of enterocytes. Undigested lactose is osmitally active and present with abdominal distension and diarrhea with consumption of milk products
Celiac Disease
Immune mediated damage of the small bowel villi due to gluten exposure.
see with HLA -DQ2 and HLA-DQ8
Gluten’s gliadin is deamniated by tissue transglutaminase and then presented on MHC II and Helper T Cells mediate tissue damage
Children present with abdominal distension, diarrhea, and failure to thrive
adults present with diarrhea and bloating
Both can get small herpes-like vessicles on skin (dermatitis herpetiformis) due to IgA deposition at tips of dermal papillae.
Get IgA antibodies to endomysium, tTG, gliadin. Also see IgG (important cus celiacs have increased incidence of IgA deficiency)
biopsy shows FLATTENING of villi, hyperplasia of crypts, and increased intraepithelial lymphocytes
Damage most prominent in DUODENUM
Small bowel carcinoma and T-CELL LYMPHOMA are late complications that can arise despite proper diet
Tropical Sprue
Damage to the small bowel villi from unknown organism resulting in malabsoprtion
occurs in tropical regions, arises after infectious diarrhea, damages JEJUNUM and ILLEUM (so secondary B12 and folate deficiency are possible)
Whipple Disease
Systemic tissue damage characterized by macrophages loaded with Topheryma whippelii organisms (PAS +)
classic site is small bowel lamina propria where macrophages compress lacteals so that chylomicrons cannot be transferred from enterocytes to lymphatics resulting in fat malabsoprtion and steatorrhea
Can also affects joints, cardiac valves, lymph nodes, and CNS
Abetalipoproteinemia
Auto recessive deficiency of apolipoprotein B-48 and B-100
malabsoprtion due to defective chylomicron formation (needs B48)
absent VLDL and LDL that need B-100
Carcinoid Tumor
Malignant proliferation of neuroendocrine cells with neurosecretory granules that are positive for chromogranin
anywhere in gut is possible but most likely to present in small bowel as submucosal polyp-like nodules
often secrete serotonin which is metabolized by liver and excreted in urine as 5-HIAA
if mets to Liver then serotonin bypasses the liver and spills into systemic circulation to causes carcinoid syndrome (bronchospasm, diarrhea, flushing of skin worse with alcohol and stress) or carcinoid heart disease (right sided valvular fibrosis from increased collagen leading to tricuspid regurgitation and pulmonary valve stenosis….left side not affected since lung has MAO that metabolizes serotonin)
Acute Appendicitis
Acute inflammation of the appendix
most common cause of acute abdomen
results from obstruction of the appendix by lymphoid hyperplasia (children) or fecalith (adults)
present with periumbilical pian, fever, nausea, and pain that eventually localizes to right lower quadrant at McBurney point.
Rupture results in peritonitis that presents with guarding and rebound tenderness
periappendiceal abscess is a common complication
Ulcerative colitis
Mucosal and submucosal ulcers
begins in RECTUM and extends proximally up to the cecum in a continuous fashion
present with left lower quadrant pain with bloody iarrhea
CRYPT abscesses with NEUTROPHILSS
see pseudopolyps, loss of huastra = “lead pipe” sign
Complications include toxic megacolon and carcinoma (risk depnds on extent of colonic involvmenet and duration)
Associated with primary sclerosing cholangitis and P-ANCA positivity
Smoking actually protects against ulcerative colitis
Chron Disease
FULL THICKNESS inflammation with knife like fissures
Can begin anywhere from mouth to anus with skips lesions and terminal illeum is most common
Presents with right lower quadrant pain with non-bloody diarrhea
LYMPHOID aggregates with GRANULOMAS
cobblestone mucosa, creeping fat, and strictures from myofibroblasts. See “string sign” on imaging
Complications include malabsoprtion/nutritional deficiency, calcium oxalate nephrolithiasis, fistula formation, carcinoma
Assocaited with erthema nodosum and uveities. Also ankylosing spondylitis, sacroilitis, and migratory polyarthritis
Smoking increases the chance of developing Chron disease
Hirschsprung disease
Defective relaxation and peristalisis of rectum and distal sigmoid colon due to congenital failure of the ganglion cells (neural crest derived) to descend into myenteric and submucosal plexus
associated with DOWN SYNDROME
fail to pass meconium, empty rectal vault on DRE and massive dilation of bowels
rectal suction biopsy to reveal lack of ganglion cells
Colonic Diverticula
Outpouchings of MUCOSA AND SUBMUCOSA through the muscularis propria and tends to ccur where the vasa recta transverse the musclaris propria (weakest point in colonic wall).
Tends to occur in the sigmoid colon
Can present as bright red hematochezia, diverticulitis (appendicitis like symptoms in lower LEFT quadrant), or a fistula (colovesicular fistula presents as air or stool in urine)
related to wall stress so associated with constipation, straining, and low fiber diet
Angiodysplasia
Acquired malformation of mucosal and submucosal capillary beds
arrises in CECUM and RIGHT COLO due to high wall tension
rupture presents as hematochezia in older adults
Hereditary Hemmorhagic Telangiectasia
Auto dominant disorder of thin-walled blood vessels. especially in MOUTH and GI tract
rupture presents as bleeding
Ischemic Colitis
Ischemic damage that tends to occur at the splenic flexure as this is where the SMA just barely reaches.
Presents as postprandial pain (increased energy requirements of gut) and weight loss
Usually due to atherosclerosis of SMA
Get pain and bloody diarrhea
Irritable Bowel Syndrome
Relapsing abdominal pain with bloating, flatulence, and change in bowel habits that improves with defecation
Disturbed intestinal motility
see in middle aged females
Myentric/ Auerbach Plexus
located between inner circular and outler longitudinal muscle layers of muscularis propria that regulates motility
Submucosal/Meissner Plexus
located in submucosa and regualtes blood flow, secretions, and absoprtion
Hyperplastic Polyps
Hyperplasia of glands serrated appearance on microscopy most coomon polyp usually in left colon NOT malignant
Adenomatous Polyp
Neoplastic proliferation of glands
Benign but premalignant and can progress to adenocarcinoma via adenoma-carcinoma sequence
Adenoma-Carcinoma Sequence
APC mutations of BOTH genes increases risk for FORMATION of polyp
K-Ras mutation leads to formation of polyp
p53 mutation and increased expression of COX allow for progression to carcinoma
ASPIRIN impedes progression from adenoma to carcinoma
Familial Adenomatous Polyp
Auto dominant disorder characterized by 100s to 1000s of adenomatous colonic polyps due to inherited APC Mutation (Cr 5) increasing propensity to develop adenmatous polyps throughout the colon and the rectum.
Remove colon and rectum prophylactically
Garder Syndrome
FAP
Fibromatosis - non-neoplastic proliferation of fibroblasts. Arises in retroperitoneum and locally destroys tissues
Osteoma - benign tumor of bone that usually arises in teh skull
Turcot Syndrome
FAP CNS tumors (meduloblastoma and glial tumors)
Juvenile Polyp
Sporadic, hamartomatous (benign) polyp that arises in children less than 5
usually presents as solitary rectal polyp that prolapses and bleeds.
Large numbers increase risk for progression to carcinoma
Peutz-Jeghers Syndrome
Hamartomatous (benign) polyps throughout the GI tract and mucocutaneous hyperpigmentation on lips, oral mucosa, and genital skin
auto dominant disorder
Increased risk for colorectal, breast, and gynecologic cancer
Colorectal Carcinoma
Peak incidence is 60-70 years
most commonly arises from adenoma-carcinoma sequence but can also arise from microsatelite instability (MSI) where there are defective DNA mismatch repair enzymes.
Hereditary HNPCC is due to inherited mutations in DNA mismatch repair enzymes and patients have increased risk for colorectal, ovarian, and endometrial carcinoma all occuring at a young age.
Screen with colonoscopy or fecal occult blood
Left sided carcinoma = napkin ring lesion with DECREASED STOOL CALIBER,left lower quadrant pain, and blood streaked stool, adenoma-carcinoma pathway more likely cause
Right sided carcinoma = grows as a riased lesion that has occule bleeding that causes an iron deficiency anemia and vague pain that usually arrises from MSI
Colonic carcinoma is associated with icnreased risk for streptococcus bovis endocarditis!!!!
CEA is a serum tumor marker ti assess treatment response and reccurence but not usefull for screening.
most commonly mets to Liver
