StepWise USMLE
gastroenterology · pathology

Esophagus · Stomach · Intestines

High‑yield digest of congenital, inflammatory, neoplastic, and motility disorders — USMLE Step 1 focus.

🔬 Esophagus

  • Tracheoesophageal fistula — congenital connection between esophagus & trachea
  • Often with esophageal atresia; presents with aspiration at birth
  • Adults: secondary to malignancy, trauma, or iatrogenic
  • Esophageal webs — thin mucosal protrusions → dysphagia
  • Plummer‑Vinson: webs + iron‑deficiency anemia + ↑ SCC risk (middle‑aged women)
  • Schatzki ring — web‑like narrowing at GE junction
  • Achalasia — LES fails to relax; progressive dysphagia
  • Dilated esophagus proximal to LES; "bird‑beak" on barium
  • Micro: loss of myenteric ganglion cells
  • Tx: balloon dilation or myotomy; ↑ risk of SCC
  • Chagas disease (S. America) can cause achalasia (Trypanosoma cruzi)
  • Mallory‑Weiss tear — linear laceration at GE junction from severe vomiting
  • Associated with alcohol abuse; can cause hematemesis
  • Esophageal varices — dilated submucosal veins (lower ⅓) due to portal HTN
  • Most common cause: cirrhosis; risk of massive hemorrhage
  • Tx: band ligation, sclerotherapy, balloon tamponade
  • pearl Barrett esophagus: metaplasia (squamous → columnar) from GERD; ↑ adenocarcinoma risk
  • GERD — reflux of gastric secretions → heartburn, regurgitation
  • Complications: stricture, asthma, Barrett esophagus
  • Barrett esophagus — intestinal metaplasia of distal esophagus
  • Endoscopy: irregular GEJ, red tongues extending upward
  • Dysplasia → adenocarcinoma sequence
  • SCC — worldwide most common esophageal cancer
  • Risk: smoking, alcohol, achalasia, Plummer‑Vinson, tylosis, lye
  • Often asymptomatic until late; progressive dysphagia, weight loss
  • Adenocarcinoma — arises from Barrett; more in Caucasians
  • Distal esophagus; prognosis poor
  • ⚠️ In US, SCC and adenocarcinoma equal frequency

🧫 Stomach

  • Pyloric stenosis — congenital hypertrophy of pyloric sphincter
  • Male > female; associated with Turner/Edwards
  • Projectile vomiting, palpable "olive" mass; surgical tx
  • Congenital diaphragmatic hernia — stomach herniates into thorax
  • Left‑sided; associated with intestinal malrotation, lung hypoplasia
  • Menetrier disease — hyperplasia of surface mucous cells; enlarged rugae
  • Decreased acid, protein‑losing enteropathy, ↑ gastric cancer risk
  • Acute hemorrhagic gastritis — mucosal erosion from barrier breakdown
  • Causes: NSAIDs, alcohol, stress, uremia, burns
  • Epigastric pain, hematemesis, melena
  • Stress ulcers — multiple, superficial; ICU, burns, ↑ ICP (Cushing)
  • Chronic gastritis – fundic (autoimmune)
  • Anti‑parietal cell / anti‑intrinsic factor → loss of parietal cells
  • ↓ acid, ↑ gastrin, pernicious anemia (B12 deficiency)
  • ↑ risk gastric carcinoma; loss of rugal folds
  • Chronic gastritis – antral (H. pylori)
  • Most common in US; curved gram‑negative rods, urease‑positive
  • Associated with peptic ulcer, gastric MALT lymphoma, intestinal‑type adenocarcinoma
  • Micro: organisms in mucous layer, lymphoid follicles, intestinal metaplasia
  • Peptic ulcer disease — distal stomach / proximal duodenum
  • Duodenal: ~100% H. pylori, ↑ acid, blood group O, MEN1, ZES
  • Gastric: ~75% H. pylori, lesser curvature antrum, <3 cm, punched out
  • Complications: hemorrhage, perforation (free air), penetration, obstruction
  • ⚠️ H. pylori detection: urea breath test, stool antigen, biopsy (gold standard)

🌀 Small & Large Intestine

  • Volvulus — bowel twist on mesentery → obstruction & infarction
  • Sigmoid colon or small bowel; associated with malrotation
  • Intussusception — telescoping of bowel (proximal into distal)
  • Children: vomiting, abdominal pain, bloody stools, sausage‑shaped mass
  • Adults: often due to tumor
  • Hirschsprung disease — congenital absence of ganglion cells (rectum + sigmoid)
  • Males > females; associated with Down syndrome
  • Delayed meconium, constipation, abdominal distention; narrow segment + megacolon
  • Biopsy: absent ganglia in Auerbach & Meissner plexuses
  • Celiac sprue — gluten hypersensitivity (gliadin) → villous atrophy
  • HLA‑DQ2/DQ8; diarrhea, steatorrhea, weight loss, dermatitis herpetiformis
  • ↑ risk GI malignancy; Tx: gluten‑free diet
  • Whipple disease — Tropheryma whipplei (PAS‑positive macrophages)
  • Malabsorption, arthralgias, CNS; Caucasian males 30–50; Tx: antibiotics
  • Pseudomembranous colitis — C. difficile (often after antibiotics)
  • Yellow‑tan pseudomembranes; diarrhea, fever, cramps
  • Tx: vancomycin or metronidazole
  • Appendicitis — obstruction by fecalith → periumbilical pain → RLQ
  • Fever, nausea, elevated WBC; rupture → peritonitis
  • Ischemic bowel — atherosclerosis, thromboembolism, shock
  • Watershed areas (splenic flexure); abdominal pain, bloody diarrhea
  • Hemorrhoids — dilated anal veins; constipation, pregnancy, cirrhosis
  • Angiodysplasia — vascular malformation; >55 years, recurrent bleeding
  • pearl Meckel diverticulum: 2% population, 2 ft from ileocecal, 2 cm, ≤2 years; may have ectopic gastric mucosa
  • Colonic diverticulosis — acquired outpouching (pseudodiverticulum)
  • Low‑fiber diet; sigmoid colon most common; bleeding, diverticulitis
  • Melanosis coli — black pigmentation from laxative use (macrophage pigment)

🔄 Inflammatory Bowel Disease

FeatureCrohn diseaseUlcerative colitis
Most common siteTerminal ileumRectum
DistributionDiscontinuous ("skip")Continuous, rectum → colon
GrossCobblestone, fissures, creeping fatPseudopolyps, extensive ulceration
MicroNon‑caseating granulomas, transmuralCrypt abscesses, mucosa/submucosa
ComplicationsStrictures, fistulas, obstructionToxic megacolon
Extra‑intestinalArthritis, PSC, uveitis, erythema nodosumSame (PSC, arthritis, etc.)
  • Crohn — bimodal (10‑30, 50‑70); transmural, granulomas, fistulas
  • UC — peak 20‑30; continuous, crypt abscesses, toxic megacolon
  • Both ↑ risk of colorectal cancer (similar for extent/duration)

🧬 Neoplasia & Polyps

  • Gastric adenocarcinoma — Japan > US; risk: H. pylori, smoked foods, nitrosamines
  • Intestinal type: gland‑forming; diffuse type: signet‑ring, linitis plastica
  • Metastasis: Virchow node, Krukenberg tumor (ovary)
  • Gastric MALT lymphoma — associated with H. pylori; marginal zone B‑cell
  • Colonic adenocarcinoma — 3rd most common cancer; risk: low‑fiber, red meat, polyps, IBD
  • APC mutation → Wnt activation; mismatch repair → microsatellite instability
  • Right‑sided: polypoid, bleeding, iron deficiency; Left‑sided: napkin‑ring, obstruction
  • TNM staging; CEA for recurrence monitoring
  • Familial adenomatous polyposis (FAP) — APC 5q21; >100 polyps; 100% cancer by 40
  • Gardner: + osteomas, fibromas; Turcot: + CNS tumors
  • HNPCC (Lynch) — mismatch repair; ↑ colon, endometrial, ovarian cancer
  • Peutz‑Jeghers — hamartomatous polyps, oral pigmentation; ↑ multiple cancers
  • Carcinoid — neuroendocrine, serotonin; appendix & ileum; ↑ 5‑HIAA
  • GIST — KIT mutation; sarcoma; tyrosine‑kinase inhibitor
  • ⚠️ Serrated polyps (right colon) have malignant potential

🩺 Anus & Perianal

  • Anal skin tags — fibroepithelial polyps from inflammation or injury
  • Perianal Crohn — fissures, fistulas, abscesses, stenosis
  • Hemorrhoids — above dentate: columnar; below: anoderm/skin; bright red bleeding
  • Condyloma acuminatum — HPV‑induced; most common anal tumor
  • Anal intraepithelial neoplasia (AIN) — precursor to SCC; HPV‑related
  • Screening: high‑risk groups; anoscopy + biopsy