Gastrointestinal pathology

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jknell
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Gastrointestinal pathology
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2013-03-28 22:48:04
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GI pathology
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  1. Salivary gland tumors
    -Generally benign; often in parotid gland

    • -Pleomorphic adenoma (most common tumor; painless, movable mass, benign with high rate of recurrence)
    • -stromal (e.g. cartilage) and epithelial tissue
    • -most commonly in the parotid
    • -rarely may transform into CA

    • -Warthin's tumor (benign, heterotropic salivary gland tissue trapped in a LN, surrounded by lymphatic tissue)
    • -Always in the parotid

    • -Mucoepidermoid carcinoma (most common malignant)
    • -mucinous and squamous cells
    • -parotid; commonly involves CNVII
  2. Sialadenitis
    • Inflammation of salivary gland
    • most commonly due to obstructing stone: sialolithiasis leading to S. aureus infection
    • Usually unilateral
  3. Mumps
    • Infection with mumps virus results in bilateral inflamed parotid glands.
    • -as well as orchitis, pancreatitis, and aseptic meningitis
  4. Cleft lip and palate
    Full thickness defect of lip or palate

    Cause: failure of facial prominences to fuse (five)

    Usually occur together; isolated occurrences are less common
  5. Aphthous ulcer
    • aka Canker sore
    • Painful, superficial ulcer of the oral mucosa
    • Related to stress, resolve spontaneously
  6. Behcet syndrome
    • Triad:
    • 1. Recurrent aphthous ulcers
    • 2. Genital ulcers
    • 3. Uveitis

    • Etiology: unknown
    • -due to immune complex vasculitis involving small vessels
  7. Oral herpes
    • aka cold sores
    • Vesicles involving oral mucosa that rupture → shallow, painful, red ulcers
    • Usually due to HSV-1
    • Virus remains dormant in ganglia of trigeminal nerve; come out after stress, sunlight
  8. Squamous cell CA 
    oral cavity
    Risk factors: smoking, alcohol

    • Presentation:
    • -floor of the mouth is most common

    • Pathophysiology:
    • 1. Leukoplakia: white plaque that cannot be scrapped away (unlike candidiasis) that often represents squamous cell dysplasia
    • 2. Erythroplakia (red plaque) represent vascularized leukoplakia (highly suggestive of squamous cell dysplasia)
  9. Globus sensation
    aka globus hystericus and globus pharyngis

    • -feeling of having a 'lump' in on'es throat without clinical or radiographic evidence
    • -often triggered by strong emotion; benign
  10. Achalasia
    • -Achalasia = absence of relaxation
    • -Failure of relaxation of LES due to loss of myenteric (Auerbach's) plexus.

    • -high opening pressure and uncoordinated peristalsis → progressive dysphagia to solid and liquids
    • -Barium swallow shows dilated esophagus with an area of distal stenosis
    • -("bird's beak")

    -Increased risk of esophageal CA

    • -Secondary achalasia may arise from Chagas' disease (infection with Trypanosoma cruzi)
    • -Scleroderma (CREST syndrome) is associated with esophageal dysmotility involveing low pressure proximal to LES

    • Sx:
    • -Dysphagia for solids and liquids
    • -Putrid breath
    • -High LES pressure
    • -"Bird'beak" sign on barium swallow study
    • -increase risk for esophageal Squamous cell CA
  11. Esophageal pathologies
    • Gastroesophageal reflux disease (GERD)
    • Esophageal varices
    • Esophagitis
    • Mallory-Weiss syndrome
    • Boehaave syndrome
    • Esophageal strictures
    • Plummer-Vinson syndrome
    • Zenker diverticulum
    • Esophageal carcinoma
  12. GERD
    • Presentation:
    • -heartburn
    • -asthma (adult-onset) and cough
    • -regurgitation upon lying down
    • -damage to enamel of teeth
    • -nocturnal cough and dyspnea
    • -ulceration with strictures and Barrett's esophagus (late complications)

    • Pathophysiology:
    • -reduced LES tone

    • Risk factors:
    • -alcohol
    • -tobacco
    • -obesity
    • -fat-rich diet
    • -caffeine
    • -hiatal hernias
  13. Esophageal varices
    -Dilated submucosal veins in the lower esophagus

    • -Painless bleeding of submucosal veins in lower 1/3 of esophagus
    • -Painless hematemesis

    • Etiology: arise secondary to portal hypertension
    • -**Most common cause of death in cirrhosis (bleeding + coagulopathy)
  14. Esophagitis
    • Associated with reflux, infection:
    • -HSV-1: punched out culcers;
    • -CMV: linear ulcers;
    • -Candida: white pseudomembrane

    or chemical ingestion
  15. Tracheoesophageal fistula
    • Congenital defect resulting in connection between esophagus and trachea

    • Presentation:
    • -Vomiting
    • -Polyhydramnios
    • -Abdominal distension
    • -Aspiration
  16. Mallory-Weiss syndrome
    • Mucocal (Longitudinal) lacerations at the GE junction due to severe vomiting
    • -leads to painful hematemesis

    Found in alcoholics and bulimics

    Risk of Boerhaave syndrome: rupture of esophagus leading to air in mediastinum and subcutaneous emphysema
  17. Zenker diverticulum
    Outpouching of pharyngeal mucosa through an acquired defect in the muscular wall (false diverticulum)

    -Arises above the UES at the junction of the esophagus and pharynx

    • Presentation: dysphagia, obstruction, halitosis
    • -often asymptomatic
  18. Boerhaave syndrome
    • -Transmural esophageal rupture due to violet retching;
    • -leads to air in the mediastinum → subcutaneous emphysema

    "Been-heaving Syndrome"
  19. Esophageal strictures
    Associated with lye ingestion and acid reflux
  20. Esophageal web
    Thin protrusion of esophageal mucosa, most often upper esophagus

    • Presentation:
    • -dysphagea for poorly chewed food

    • -increased risk for esophageal squamous cell carcinoma
    • -Plummer-Vinson syndrome**
  21. Plummer-Vinson syndrome
    • Triad of:
    • 1. Dysphagia (due to esophageal webs)
    • 2. Glossitis - beefy-red tongue due to atrophic glossitis
    • 3. Iron deficiency anemia
  22. Barrett's esophagus
    • Gradual metaplasia in the distal esophagus:
    • -replacement of nonkeratinized (stratified) squamous epithelium → intestinal (columnar) epithelium with goblet cells

    • Etiology:
    • 1. Chronic acid reflux (GERD)
    • -10% of patients with GERD
    • -Associated with esophagitis, esophageal ulcers, and increased risk of esophageal adenocarcinomas

  23. Esophageal cancer
    • Presentation: progressive dysphagia (first solids, then liquids) and weight loss; pain, hematemesis
    • -Poor prognosis; present late

    • Risk factors:
    • 1. Squamous cell carcinoma (upper 2/3rds of esophagus)
    • -Alcohol/Achalasia
    • -Cigarettes
    • -esophageal web
    • -esophageal injury (lye ingestion)
    • -Very hot tea

    • 2. Adenocarcinoma (lower 1/3 of esophagus)
    • -Barrett's esophagus/GERD
    • -Esophageal web/Esophagitis
    • -Diverticular (e.g. Zenker's)

    *The esophagus is a SAC on A BED

    • Worldwide: SCC > adenocarcinoma
    • US: adenocarcinoma > SCC

    • LN spread:
    • -Upper 1/3 → cervical nodes
    • -Middle 1/3 → mediastinal or tracheobronchial nodes
    • -Lower 1/3 → celiac and gastric nodes
  24. Malabsorption syndromes
    • -Tropical sprue
    • -Whipple's disease
    • -Celiac sprue
    • -Disaccharidase deficiency
    • -Abetalipoproteinemia
    • -Pancreatic insufficiency

    These Will Cause Devistating Absorption Problems

    • Sx:
    • -diarrhea
    • -steatorrhea
    • -weight loss
    • -weakness
  25. Tropical sprue
    • Probably infectious; responds to Abx
    • Similar to celiac sprue, but can affect entire small bowel
  26. Whipple's disease
    • Infection with Tropheryma whippelii (gram positive)
    • -PAS+ foamy macrophages in intestinal lamina propria, mesenteric nodes

    • Presentation:
    • -diarrhea, steatorrhea, weight loss, weakness
    • -Arthralgias, cardiac and neurologic symptoms are common
    • -Most often occurs in older men

    • Foamy Whipped cream in a CAN:
    • -Foamy (PAS+) macrophages
    • -Cardiac symptoms
    • -Arthralgias
    • -Neurologic symptoms
  27. Celiac sprue
    • Autoimmune-mediated intolerance of gliadin (gluten) in wheat and other grains → steatorrhea
    • Proximal small bowel primarily (↓ mucosal absorption that primarily affects jejunum)

    Epidemiology
    : European descent

    • Findings:
    • -antibodies to gliadin
    • -antibodies to tTG (tissue transglutaminase)
    • -blunting of villi
    • -Lymphocytes in the lamina propria
    • -(blunting of villi and crypt hyperplasia)

    • Association: Dermatitis herpetiformis
    • -Moderately increased risk of malignancy (T-cell lymphoma)
  28. Disaccharidase deficiency
    Most common lactase deficiency → milk intolerance

    • Presentation:
    • -Nl appearing villi
    • -Osmotic diarrhea

    -since lactase is located at tips of intestinal villi, self-limited lactase deficiency can occur following injury (i.e. viral diarrhea)

    • Lactose tolerance test: positive for lactase deficiency if:
    • 1. Administration of lactose produces sx, and
    • 2. Glucose rises <20mg/dL
  29. Abetalipoproteinemia
    • ↓ synthesis of apo B:
    • → inability to generate chylomicrons → ↓ secretion of cholesterol, VLDL into bloodstream → fata accumulation in enterocytes

    -presents in early childhood (with malabsorption and neurologic manifestations)
  30. Pancreatic insufficiency
    • Etiology:
    • -Cystic fibrosis
    • -obstructing cancer
    • chronic pancreatitis

    Causes malabsorption of fat and fat-soluble vitamins (vitamins A, D, E, K)

    ↑ neutral fat in stool
  31. Stomach pathologies
    • Gastritis (acute and chronic)
    • Gastroschisis
    • Omphalocele
    • Pyloric stenosis
    • Peptic ulcer disease
    • Gastric carcinoma
  32. Gastritis
    • Acute gastritis (erosive)
    • Chronic gastritis (non-erosive)
    • -Type A (fundus/body)
    • -Type B (antrum)
  33. Acute gastritis
    Disruption of mucosal barrier → inflammation, damage to stomach mucosa

    • Causes:
    • -stress
    • -NSAIDs (↓PGE2 → ↓gastric mucosa protection)
    • -Alcohol
    • -Uremia
    • -Burns (Curling's ulcer: ↓plasma volume → sloughing of gastric mucosa)
    • -Brain injury causing increased intracranial pressure (Cushing's ulcer: ↑ vagal stimulation →↑ ACh →↑H+ production)
    • -Chemotherapy

    • *Burned by the Curling iron.
    • *Always Cushion the brain
  34. Chronic gastritis
    • Type A (fundus/body)
    • -Autoimmune disorder characterized by: Autoantibodies to parietal cells, pernicious Anemia, and Achlorhydria (low acid production) with increased gastrin levels and antral G-cell hyperplasia
    • -Type IV hypersensitivity (T cell mediated disease)
    • -Increased risk for gastric adenocarcinoma (intestinal type)

    AB pairing - pernicious Anemia affects gastric Body

    • Type B (antrum)
    • -most common type; caused by H. pylori infection
    • -abdominal pain, increased risk for gastric adenocarcinoma
    • -↑ risk of MALT lymphoma

    *H. pylori Bacterium affects Antrum
  35. Gastroschisis
    • Congenital malformation of anterior abdominal wall
    • →exposure of abdominal contents
  36. Omphalocele
    Persistent herniation of bowel into umbilical cord

    • -Failure of intestines to return to the body cavity during development
    • -Contents covered by peritoneum and amnion of the umbilical cord
  37. Ménétrier's disease
    • -Gastric hypertrophy with protein loss
    • -Parietal cell atrophy
    • -↑ mucous cells
    • -Precancerous
    • -Rugae of stomach are so hypertrophied that they look like brain gyri
  38. Pyloric stenosis
    • Congenital hypertrophy of pyloric smooth muscle
    • ♂ > ♀

    • Presentation: two weeks after birth
    • 1. projectile nonbilious vomiting
    • 2. Visible peristalsis
    • 3. Olive-like mass in the abdomen (on physical exam)

    Tx: myotomy
  39. Peptic ulcer disease
    Solitary mucosal ulcer involving:

    • 1. Proximal duodenum (90%)
    • -of which, >95% is due to H. pylori
    • -rarely due to ZE syndrome
    • Presentation:
    • -pain that improves with meals
    • -hypertrophy of Brunner glands
    • -rupture may lead to bleeding from the gastroduodenal artery
    • -Anterior ulcer more common
    • -almost never malignant

    • 2. Distal stomach (10%)
    • -Usually H. pylori (75%); other causes include NSAIDs and bile reflux (decreased mucosal protection)
    • Presenation:
    • -Pain that worsens with meals
    • -Rupture caries risk of bleeding from Left gastric artery
    • -Can be caused by gastric CA (intestinal subtype)
    • -Benign: punched-out, <3cm, 
    • -Malignant: large, irregular, heaped up margins

    • Tx: triple therapy
    • 1. PPI
    • 2. Clarithromycin
    • 3. Amoxicillin

    • Complications:
    • -Hemorrhage --Gastric, duodenal (posterior > anterior)
    • -Perforation -- Duodenal (anterior > posterior)
  40. Gastric carcinoma
    • Adenocarcinoma most common
    • -early aggressive local spread and node/liver mets
    • -association with dietary nitrosamines (smoked foods), achlorhydria (low acid production), chronic gastritis, type A blood
    • -Often presense with acanthosis nigricans

    • Intestinal type: more common
    • -large, irregular ulcer with heaped up margins
    • -resembles colonic adenocarcinoma
    • -most commonly involves lesser curvature of the antrum (similar to gastric ulcer)
    • -Risk factors: intestinal metaplasia due to H. pylori and autoimmune gastritis, nitrosamines in smoked food

    • Diffuse type:
    • -signet ring cells that diffusely infiltrate the gastric wall
    • -grossly thickened and leathery (linitis plastica)
  41. Gastric carcinoma
    Virchow's node: involvement of left supraclavicular node by mets from stomach

    • Krukenberg's tumor: bilateral mets to ovaries
    • -Abundant mucus, signet ring cells

    Sister Mary Joseph's nodule: subcutaneous periumbilical metastasis
  42. Ulcer complications
    • Hemorrhage:
    • -Gastric, duodenal (posterior > anterior)
    • -Rupture gastric ulcer on the lesser curvature of the stomach → bleeding from left gastric artery
    • -Posterior wall of duodenum → bleeding from gastroduodenal artery)

    • Perforations:
    • -Duodenal (anterior > posterior)
  43. Inflammatory bowel disease
    Crohn's disease
    • Full-thickness inflammation with knife-like fissures (transmural)
    • Location: anywhere; skip lesions; terminal ileum, skips the rectum
    • Sx: RLQ pain, non-bloody diarrhea
    • Inflammation: lymphooid aggregates with granulomas
    • Gross appearance: Cobblestone mucosa, creeping fat, strictures
    • Complications: Malabsorption, fistula formation, carcinoma, calcium oxalate nephrolithiasis, strictures
    • Association: Ankylosing spondylitis, migratory polyarthritis, erythema nodosum, uveitis, 
    • Smoking: increases risk
    • Tx: corticosteroids, azathioprine, methotrexate, infliximab, adalimumab
  44. Inflammatory bowel disease
    Ulcerative colitis (UC)
    • Mucosal and submucosal ulcers
    • Location: begins in rectum and extends proximally up to the cecum (at most); continuous
    • Sx: LLQ pain, bloody diarrhea
    • Inflammation: Crypt abscesses with neutrophils
    • Gross appearance: Friable pseudopolyps; loss of houastra ("lead pipe" sign on imaging)
    • Complications: toxic megacolon and carcinoma; carcinoma
    • Associations: Primary sclerosing cholangitis and p-ANCA
    • Smoking: protective!
    • Tx: ASA preparations (sulfasalazine), 6-mercaptopurine, infliximab, colectomy
  45. Irritable bowel syndrome
    • Recurrent abdominal pain associated with ≥ 2 of the following:
    • -Pain improves with defecation
    • -Change in stool frequency
    • -Change in appearance of stool

    • No structural abnormalities
    • Most common in  middle-aged women
    • Chronic symptoms
    • Presentation: diarrhea, constipation, alternating sx
  46. Appendicitis
    • Acute inflammation of the appendix due to obstruction by fecalith (adults) or lymphoid hyperplasia (children)
    • Initial diffuse periumbilical pain, migrates to McBurney's point
    • Presentation: nausea, fever
    • Complication: perforation → peritonitis
    • Differential: diverticulitis (elderly), ectopic pregnancy (check β-hCG)
    • Tx: appendectomy
  47. Diverticulum
    • Blind pouch protruding from the alimentary tract that communicates with the lumen of the gut
    • Most are "false" (esophagus, stomach, duodenum, colon) and are acquired
    • Most often in sigmoid colon
  48. False diverticulum
    pseudodiverticulum
    • only mucosa and submucosa outpouch
    • lack the muscularis externa
    • Occurs especially where vasa recta perforate muscularis externa
  49. "true" diverticulum
    • All 3 gut wall layers outpouch
    • e.g., Meckel's diverticulum
  50. Diverticulosis
    • Many false diverticula
    • Common (50% of all people > 60 years)
    • Cause: ↑ intraluminal pressure and focal weakness in colonic wall
    • Associated with low-fiber diets
    • Most often in sigmoid colon
    • Presentation: asymptomatic, or associated with vague discomfort
    • Common cause of hematochezia (fresh blood passed through anus)
    • Complications: diverticulitis, fistulas
  51. Diverticulitis
    • Inflammation of diverticula
    • Classic presentation: LLQ pain, fever, leukocytosis
    • Labs: stool occult blood is common; +/- hematochezia
    • Complication: perforate → peritonitis, abscess formation, bowel stenosis; colovesical fistula (fistula with bladder) →pneumaturia (passage of air or gas in the urine)
    • Tx: antibiotics
  52. Zenker's diverticulum
    Phareyngeal pouch
    • False diverticulum
    • Herniation of mucosal tissue at Killian's triangle between the thyropharyngeal and cricopharyngeal parts of the inferior pharyngeal constrictor
    • Presentation: halitosis, dysphagia, obstruction
    • True diverticulum
    • Persistence of the vitelline duct
    • May contain ectopic acid-secreting gastric mucosa and/or pancreatic tissue
    • *Most common congenital anomaly of the GI tract
    • Complication/presentation: melena, RLQ pain, intussusception, volvulus, or obstruction near terminal ileum
    • Differentiate: omphalomesenteric cyst (cystic dilation of vitelline duct)
    • Dx: pertechnetate study for ectopic uptake
  53. Meckel's diverticulum
    Five 2's
    • 2 inches long
    • 2 feet from the ileocecal valve
    • 2% of population
    • Presents within the first 2 years of life
    • May have 2 types of peithelia (gastric/pancreatic)
  54. Intussusception
    • Telescoping of 1 bowel segment into distal segment
    • Commonly at the ileocecal junction
    • "Current jelly" stools
    • Complication: compromise blood supply (abdominal emergency)
    • Unusual in adults: think intraluminal mass or tumor
    • Most occur in children (idiopathic)
  55. Volvulus
    • Twisting of portion of bowel around its mesentery
    • Complication: obstruction and infarction
    • Common at cecum and sigmoid colon, where there is redundant mesentery
    • Usually in elderly
  56. Hirschprung's disease
    Congenital megacolon: lack of ganglion cells/enteric nervous plexus (Auerbach's and Meissner's plexus)

    • Cause:
    • failure of neural crest cell migration

    • Presentation:
    • -chronic constipation early in life
    • -Dilated portion of colon proximal to the aganglionic segment ("transition zone")
    • -Involves rectum
    • -Usually fail to pass mechonium

    **Think of Hirschsprung's as a giant spring that has sprung in the colon

    ↑ risk with Down syndrome

    • Dx: rectal suction biopsy
    • Tx: resection
  57. Duodenal atresia
    • Causes early bilious vomiting with proximal stomach distention ("double-bubble" on X-ray)
    • Failure of recanalization of small bowel
    • Associated with down syndrome
  58. Meconium ileus
    • In Cystic fibrosis:
    • meconium plug obstructs intestine
    • prevents stool passage at birth
  59. Necrotizing enterocolitis
    • Necrosis of intestinal mucosa and possible perforation
    • Colon is usually involved; can involve entire GI tract
    • Neonate: more common in preemies (↓ immunity)
  60. Ischemic colitis
    • Reduction in intestinal blood flow causes ischemia (pain out of proportion with physical findings)
    • Pain after eating → weight loss
    • Commonly occurs at splenic flexure and distal colon
    • Typically affects elderly
  61. Adhesion
    • Fibrous band of scar tissue
    • Commonly forms after surgery
    • Most common cause of small bowel obstruction
    • Can have well-demarcated necrotic zones
  62. Angiodysplasia
    • Tortuous dilation of vessels → hematochezia
    • Most often found in cecum, terminal ileum, ascending colon
    • More common in older patients
    • Confirmed by angiography
  63. Colonic polyps
    • Masses protruding into gut lumen → sawtooth appearance
    • 90% are non-neoplastic
    • Often rectosigmoid
    • Can be tubular or villous
    • Tubular adenoma
    • Smaller, more rounded, more likely to be benign
    • Villous adenoma
    • Long, finger-like projections
  64. Adenomatous polyps
    • Precancerous - precursor to colorectal cancer
    • Malignant risk is associated with ↑ size, villous histology, ↑ epithelial dysplasia
    • **More villous → more likely to be malignant (villous villainous)
    • Polyp symptoms - often asymptomatic, lower GI bleed, partial obstruction, secretory diarrhea
  65. Hyperplastic polyps
    Most common non-neoplastic polyp in colon (>50% found in rectosigmoid colon)
  66. Juvenile polyps
    • Mostly sporadic lesions in children <5 years of age
    • If single, no malignant potential
    • Jvenile polyposis syndrome: multiple juvenile polyps in GI tract; ↑ risk of adenocarcinoma
  67. Peutz-Jeghers
    • Single polyps are not malignant
    • Peutz-Jeghers syndrome:
    • -Autosomal dominant syndrome featuring multiple nonmalignant hamartomas throughout GI tract
    • -Hyperpigmented mouth, lips, hands, genetalia
    • -Associated with ↑ risk of CRC and other visceral malignancies
  68. Colorectal cancer
    Epidemiology, risk factors
    • Epidemiology:
    • -3rd most common cancer
    • -3rd most deadly in US
    • -Most pts >50 years of age
    • -25% have a family history

    • Risk factors:
    • -Genetics
    • -IBD
    • -tobacco use
    • -large villous adenomas
    • -juvenile polyposis syndrome
    • -Peutz-Jeghers syndrome
  69. Colorectal cancer
    Genetics
    • Familial adenomatous polyposis (FAP):
    • -Autosomal dominant
    • -mutation of APC gene on chrom 5q
    • -2-hit hypothesis
    • -100% progression to CRC
    • -Thousands of polyps; pancolonic; always involves rectum

    • Gardner's syndrome:
    • -FAP + osseous and soft tissue tumors, congenital hypertrophy of retinal pigment epithelium

    • Turcot's syndrome:
    • -FAP + malingant CNS tumor
    • **Turcot = Turban

    • Hereditary nonpolyposis colorectal cancer (HNPCC/Lynch syndrome):
    • -Autosomal dominant mutation of DNA mismatch repair genes
    • -80% progress to CRC
    • -Proximal colon is always involved
  70. Colorectal cancer
    Presentation
    • Rectosigmoid > ascending > descending
    • Ascending: exophytic mass, iron deficiency, anemia, weight loss
    • Descending: infiltrating mass, partial obstruction, colicky pain, hematochezia
    • Rarely presents as Streptococcus bovis bacteremia
  71. Colorectal cancer
    Diagnosis
    • Iron deficiency anemia in males (especially >50 years of age) and postmenopausal females raises suspicion
    • Screen patients > 50 years of age with colonoscopy or stool occult blood test
    • "Apple core" lesion seen on barium enema x-ray
    • CEA tumor marker; good for monitoring recurrence not useful for screening
  72. Molecular pathogenesis of CRC
    • 1. Microsatalite instability pathway (15%)
    • -DNA mismatch repair gene mutations → sporadic and HNPCC syndrome
    • -Mutations accumulate, but no defined morphologic correlates

    • 2. APC/β-catenin (chromosomal instability) pathway) (85%):
    • **Order of gene events - AK-53
  73. Carcinoid tumor
    • Tumor of neuroendocrine cells
    • Constitute 50% of small bowel tumors; most common malignancy in the small intestine
    • Most common sites: appendix, ileum, rectum
    • "Dense core bodies" seen on EM
    • Often produce 5-HT, which can lead to carcinoid syndrome
  74. Carcinoid tumor
    Presentation, location, treatment
    • Presentation:
    • -wheezing
    • -right-sided heart murmurs
    • -diarrhea
    • -flushing

    • Tumor location:
    • -Tumor confined to GI system, no carcinoid syndrome is observed, since liver metabolizes 5-HT
    • -If tumor or metastases (usually to liver) exists outside GI system, carcinoid syndrome is observed

    • Tx:
    • -resection
    • -octreotide
    • -somatostatin
  75. Cirrhosis
    • Diffuse fibrosis and nodular regeneration destroys normal architecture of liver
    • Increased risk for hepatocellular carcinoma
    • Etiologies: alcohol (60-70%), viral hepatitis, biliary disease, hemochromatosis
  76. Portosystemic shunts of portalhypertension
    • Gut: Esophageal varicies
    • Butt: hemroids 
    • Caput: Caput medusae
  77. Effects of portal hypertension
    • Esophageal varices → hematemesis
    • Peptic ulcer → melena
    • Splenomegaly
    • Caput medusae, ascites
    • Portal hypertensive gastropathy
    • Hemorrhoids
  78. Effects of liver cell failure
    • Coma
    • Scleral icterus
    • Fetor hepaticus (breath smells musty)
    • Spider nevi
    • Gynecomastia
    • Jaundice
    • Testicular atrophy
    • Liver "flap" - asterixis (coarse hand tremor)
    • Bleeding tendency (↓ clotting factors, ↑ prothrombin time)
    • Anemia
    • Ankle edema
  79. Serum markers of liver and pancreas pathology
    • Aminotransferases (AST and ALT):
    • -Viral hepatitis (ALT > AST)
    • -Alcoholic hepatitis (AST > ALT)

    • Alkaline phosphatase (ALP):
    • -Obstructive liver disease (hepatocellular carcinoma)
    • -bone disease
    • -bile duct disease

    • γ-glutamyl transpeptidase (GGT):
    • -↑ in various liver and biliary diseases like ALP, but not in bone disease

    Amylase: Acute pancreatitis, mumps

    Lipase: Acute pancreatitis

    Ceruloplasmin: ↓ in Wilson's disease
  80. Reye's syndrome
    • Rare, often fatal childhood hepatoencephalopathy
    • Findings:
    • -mitochondrial abnormalities
    • -fatty liver (microvesicular fatty change)
    • -hypoglycemia
    • -vomiting
    • -hepatomegaly
    • -coma

    Associated with viral infection (especially VZV and influenza B) that has been treated with aspirin

    • Mechanism:
    • -Aspirin metabolites ↓ β-oxidation by reversible inhibition of mitochondrial enzyme

    **Avoid aspirin in children, except those with Kawasaki's disease
  81. Alcoholic liver disease
    • Hepatic steatosis (fatty liver disease)
    • Alcoholic hepatitis
    • Alcoholic cirrhosis
  82. Hepatic steatosis
    • Short-term change with moderate alcohol intake
    • Macrovesicular fatty change that may be reversible with alcohol cessation
  83. Alcoholic hepatitis
    • Requires sustained, long-term consumption
    • Swollen and necrotic hepatocytes with neutrophilic infiltration
    • Mallory bodies (intracytoplasmic eosinophilic inclusions) are present
    • AST > ALT (ratio usually >1.5)
  84. Alcoholic cirrhosis
    • Final, irreversible form
    • Micronodular, irregularly shrunken liver with "hobnail" appearance
    • Sclerosis around central vein (zone III)
    • Has manifestations of chronic liver disease (e.g., jaundice, hypoalbuminemia)
  85. Hepatocellular carcinoma
    Hepatoma
    • Most common 1° malignant tumor of the liver in adults
    • Risks: hepatitis B and C, Wilson's disease, hemochromatosis, α1-antitrypsin deficiency, alcoholic cirrhosis, and carcinogens (e.g., aflatoxin from Aspergillus)
    • Findings: jaundice, tender, hepatomegaly, ascites, polycythemia, and hypoglycemia
    • -Commonly spread by hematogenous dissemination
    • -↑ α-fetoprotein
    • -*May lead to Budd-Chiari syndrome
  86. Other liver tumors
    Cavernous hemangioma, hepatic adenoma, angiosarcoma
    • Cavernous hemangioma:
    • -Common, benign liver tumor
    • -Typically occur at age 30-50 years
    • -Biopsy contraindicated because of risk of hemorrhage

    • Hepatic adenoma:
    • -Benign liver tumor
    • -often related to oral contraceptive or steroid use
    • -can regress spontaneously
    • -risk of rupture in pregnancy

    • Angiosarcoma:
    • -Malignant tumor of endothelial origin
    • -Associated with exposure to arsenic, polyvinyl chloride
  87. Nutmeg liver
    • Due to backup of blood into liver
    • Commonly caused by right-sided heart failure and Budd-Chiari syndrome
    • The liver appears mottled like a nutmeg
    • Persistence: centrilobular congestion and necrosis can result in cardiac cirrhosis
  88. Budd-Chiari syndrome
    • Occlusion of IVC or hepatic veins with centrilobular congestion and necrosis, leading to congestive liver disease (hepatomegaly, ascites, abdominal pain, and eventual liver failure)
    • May develop varices and have visible abdominal and back veins
    • Absence of JVD
    • Associated with hypercoagulable state, polycythemia vera, pregnancy, and hepatocellular carcinoma
  89. α1-antitrypsin deficiency
    • -Misfolded gene product:
    • -Protein aggregates in hepatocellular ER → cirrhosis with PAS + globules in liver
    • -Lungs: lack of functioning enzymes → ↓ elastic tissue → panacinar emphysema
    • -Codominant trait
  90. Jaundice
    Yellow skin and/or sclerae resulting from elevated bilirubin

    • Caused by:
    • -Direct hepatocellular injury
    • -Obstruction to bile flow
    • -Hemolysis
  91. Jaundice
    Hepatocellular
    • Hyperbilirubinemia: direct/indirect
    • ↑ Urine bilirubin
    • Normal or ↓ urine urobilinogen
  92. Jaundice
    Obstructive
    • Hyperbilirubinemia: direct
    • ↑ Urine bilirubin
    • ↓ urine urobilinogen
  93. Jaundice
    Hemolytic
    • Hyperbilirubinemia: indirect
    •  Absent (acholuria) urine bilirubin
    • ↑ urine urobilinogen
  94. Physiologic neonatal jaundice
    • At birth, immature UDP-glucuronyl transferase → unconjugated hyperbilirubinemia → jaundice/kernicterus
    • Treatment: phototherapy (converts UCB to water-soluble form)
  95. Hereditary hyperbilirubinemias
    • Gilbert's syndrome
    • Criger-Najjar syndrome, type I
    • Dubin-Johnson syndrome
  96. Gilbert's syndrome
    • Mildly ↓ UDP-glycuronyl transferase or ↓ bilirubin uptake
    • Asymptomatic
    • Elevated unconjugated bilirubin without overt hemolysis
    • Bilirubin increases with fasting and stress
    • *No clinical consequences
  97. Crigler-Najjar syndrome, type I
    • Absent UDP-glucuronyl transferase
    • Presents early in life; pts die within a few years
    • Findings: jaundice, kernicterus (bilirubin deposition in brain), ↑ unconjugated bilirubin
    • Treatment: plasmapheresis and phototherapy
    • *Type II is less severe and responds to phenobarbital, which ↑ liver enzyme synthesis
  98. Dubin-Johnson syndrome
    • Conjugated hyperbilirubinemia due to defective liver excretion
    • Grossly black liver
    • Benign
    • Rotor's syndrome: same; mild, no black liver
    • 1. Gilberts = problem with bilirubin uptake → unconjugated bilirubinemia
    • 2. Crigler-Najjar = problem with bilirubin conjugation → unconjugated bilirubinemia
    • 3. Dubin-Johnson = problem with excretion of conjugated bilirubin → conjugated bilirubinemia
  99. Wilson's disease
    Hepatolenticular degeneration
    • -Inadequate hepatic copper excretion and failure of copper to enter circulation as ceruloplasmin
    • -Leads to copper accumulation, especially in liver, brain, cornea, kidneys, and joints

    • Characterized by: **Copper is Hella BAD"
    • -Ceruloplasmin ↓, Cirrhosis, Corneal deposits (Kayser-Fleischer rings), Copper accumulation, Carcinoma (hepatocellular)

    • -Hemolytic anemia
    • -Basal ganglia degeneration (parkinsonian symptoms)
    • -Asterixis
    • -Dementia, Dyskinesia, Dysarthria

    • Treatment:
    • -Penicillamine

    • -Autosomal-recessive inheritance (chromosomal 13)
    • -Copper is normally excreted into bile by hepatocyte copper transporting ATPase (ATP7B gene)
  100. Hemochromatosis
    • Hemosiderosis is the deposition of hemosiderin (iron)
    • Hemochromatosis is the disease caused by this deposition - *Can Cause Deposits

    • Triad:
    • -micronodular Cirrhosis
    • -Diabetes mellitus
    • -Bronze skin pigmentation ("Bronze" diabetes)

    • -Results in CHF
    • -testicular atrophy in males
    • -↑ risk of hepatocellular carcinoma

    • 1°: Autosomal recessive - C282Y or H63D mutation on HFE gene. 
    • -Associated with HLA-A3

    : chronic transfussion therapy (e.g., β-thalassemia major)

    • Labs:
    • ↑ ferritin, ↑ iron, ↓ TIBC → ↑ transferrin saturation

    • Treatment:
    • - repeated phlebotomy
    • - deferasirox
    • - deferoxamine
  101. Biliary tract disease
    Primary biliary cirrhosis
    • Pathophysiology:
    • -Autoimmune reaction → lymphocytic infiltrate + granulomas

    • Presentation:
    • -Pruritus
    • -Jaundice
    • -Dark urine
    • -light stools
    • -hepatosplenomegaly

    • Labs:
    • -↑ conjugated bilirubin
    • -↑ cholesterol
    • -↑ alkaline phosphate

    • Additional information:
    • -↑ serum mitochondrial antibodies, including IgM
    • -Associated with other autoimmune conditions (e.g., CREST, RA, celiac disease)
  102. Biliary tract disease
    Secondary biliary cirrhosis
    • Pathophysiology/pathology:
    • -Extrahepatic biliary obstruction (gallstone, biliary stricutre, chronic pancreatitis, carcinoma of the pancreatic head)
    • → ↑ pressure in intrahepatic ducts → injury/fibrosis and bile stasis

    • Presentationsame
    • -Pruritus
    • -Jaundice
    • -Dark urine
    • -light stools
    • -hepatosplenomegaly

    • Labs:
    • -↑ conjugated bilirubin
    • -↑ cholesterol
    • -↑ alkaline phosphate

    • Additional information:
    • -Complicated by ascending cholangitis
  103. Biliary tract disease
    Primary sclerosing cholangitis
    • Pathophysiology/pathology:
    • -Unknown cause of concentric "onion skin" bile duct fibrosis → alternating strictures and dilation with "beading" of intra- and extrahepatic bile ducts on ERCP

    • Presentation:
    • -Pruritus
    • -Jaundice
    • -Dark urine
    • -light stools
    • -hepatosplenomegaly

    • Labs:
    • -↑ conjugated bilirubin
    • -↑ cholesterol
    • -↑ alkaline phosphate

    • Additional information:
    • -Hypergammaglobulinemia (IgM)
    • -Associated with ulcerative colitis
    • -Can lead to 2° biliary cirrhosis
  104. Gallstones - Cholelithiasis
    Risk factors, dx, tx
    • Risk factors:
    • ↑ cholesterol and/or bilirubin
    • ↓ bile salts
    • gallbladder stasis

    • Dx:
    • -ultrasound
    • -radionuclide biliary scan (HIDA)

    • Tx:
    • -Cholecystectomy
  105. Gallstones
    risk factors: 4 F's
    • Female
    • Fat
    • Fertile (estrogen)
    • Forty
  106. Gallstones
    cholesterol stones
    • 80% of stones
    • Radiolucent with 10-20% opaque due to calcifications
    • Associated with: obesity, Crohn's disease, cystic fibrosis, advanced age, clofibrate, estrogens, multiparity, rapid weight loss, Native Americans
  107. Gallstones
    Pigment stones
    • Radiopaque
    • Seen in pts with chronic hemolysis, alcoholic cirrhosis, advanced age, biliary infection
    • Black: hemolysis
    • Brown: infection
  108. Complications of gallstones
    • Cholecystitis
    • Ascending cholangitis
    • Acute pancreatitis
    • Bile stasis
    • Biliary colic: neurohormonal activation (e.g., by CCK after a fatty meal) triggers contraction of the gallbladder, forcing stone into cystic duct
    • -Presentation: +/- pain (e.g. diabetics)
    • Fistula between gallbladder and small intestine, leading to air in the biliary tree
    • -obstruction of the ileocecal valve, air can be seen in biliary tree on imaging
  109. Charcot's triad of cholangitis
    • Jaundice
    • Fever
    • RUQ pain (positive Murphy's sign: inspiration arrest on deep RUQ palpation due to pain)
  110. Cholecystitis
    • Inflammation of gallbladder
    • Usually from gallstones
    • rarely ischemia or infectious (CMV)
    • ↑ alkaline phosphatase if bile duct becomes involved (e.g., ascending cholangitis)
  111. Acute pancreatitis
    Autodigestion of pancreas by premature activation of pancreatic enzymes

    • Causes: **GET SMASHED
    • Gallstones
    • Ethanol
    • Trauma
    • Steroids
    • Mumps
    • Autoimmune disease
    • Scorpion sting
    • Hypercalcemia/Hyperglyceridemia (>1000)
    • ERCP
    • Drugs (e.g., sulfa drugs)

    • Presentation:
    • -epigastric abdominal pain radiating to back
    • -Anorexia
    • -Nausea

    • Labs:
    • -elevated amylase, lipase (higher specificity)

    • Complications:
    • -DIC
    • -ARDS
    • -Diffuse fat necrosis
    • -hypocalcemia (Ca2+ collects in pancreatic calcium soap deposits)
    • -Pseudocyst formation
    • -Hemorrhage
    • -infection
    • -multiorgan failure
    • -pancreatic pseudocysts (lined by granulation tissue, not epithelium; can rupture and hemorrhage)
  112. Chronic pancreatitis
    • Chronic inflammation, atrophy, calcification of the pancreas
    • Causes: alcohol abuse and idiopathic
    • Complication: lead to pancreatic insufficiency → steatorrhea, fat-soluble vitamin deficieency, diabetes mellitus, and ↑ risk of pancreatic adenocarcinoma
    • Amylase and lipase are less elevated (compared to levels in acute pancreatitis)
  113. Pancreatic adenocarcinoma
    • Prognosis: ≤6 months
    • Arises from pancreatic ducts; usually metastisized at presentation
    • More common in pancreatic head (→ obstructive  jaundice)
    • Associated with CA-19-9 tumor marker (also CEA, less specific)
  114. Pancreatic adenocarcinoma
    Risk factors
    • Tobacco use (but not EtOH)
    • Chronic pancreatitis (especially > 20 years)
    • Age > 50 years
    • Jewish and African-American males
  115. Pancreatic adenocarcinoma
    Presentation, treatment
    • Presentation:
    • -Abdominal pain radiating to back
    • -Weight loss (due to malabsorption and anorexia)
    • -Migratory thrombophlebitis: redness and tenderness on palpation of extremities (Trousseau's syndrome)
    • -Obstructive jaundice with palpable, nontender gallbladder (Courvoisier's sign)

    • Treatment:
    • -Whipple procedure
    • -Chemotherapy
    • -Radiation therapy

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