Esophageal Disorders: Achalasia, Cancer & Varices
A high-yield STEP 1 / STEP 2 CK review of three esophageal disorders — achalasia, cancer (SCC vs adenocarcinoma), and varices — built around discriminating symptoms, gold-standard diagnostics, and next-best-step management. Emphasizes the classic board traps: pseudoachalasia, the solids-vs-liquids dysphagia rule, and the acute variceal-bleed bundle.
How the boards frame esophageal disease
Esophageal disease announces itself two ways on the exam: dysphagia and GI bleeding. Your first job is to localize the mechanism.
- Motility disorders (achalasia, scleroderma) cause dysphagia to solids AND liquids simultaneously, from onset.
- Mechanical obstruction (cancer, peptic stricture, Schatzki ring) causes progressive dysphagia to solids first, later liquids.
- Vascular disease (varices) presents with brisk upper GI bleeding, not dysphagia.
This lesson threads achalasia, esophageal cancer, and varices through the board sequence pathophysiology → presentation → diagnosis → next best step. Watch the recurring trap: an older patient with rapid weight loss and 'achalasia-like' findings may actually have pseudoachalasia from a GE-junction tumor — which is exactly why upper endoscopy is mandatory before treating any suspected motility disorder.
Failure of LES relaxation + loss of peristalsis
- Pathophys: degeneration of inhibitory (NO/VIP) ganglion cells in the myenteric (Auerbach) plexus → unopposed LES tone, incomplete relaxation, esophageal aperistalsis
- Secondary causes: Chagas disease (Trypanosoma cruzi); pseudoachalasia from a GEJ malignancy (older age, short symptom duration, rapid weight loss)
- Presentation: dysphagia to solids AND liquids from the start, regurgitation of undigested food, nocturnal cough/aspiration, chest pain, weight loss
- Barium swallow: dilated esophagus tapering to a distal 'bird's-beak'
- Manometry = gold standard: elevated integrated relaxation pressure (IRP) = incomplete LES relaxation, plus aperistalsis (± high resting LES pressure)
- Upper endoscopy is mandatory before therapy to exclude malignancy
- Treatment: pneumatic dilation, laparoscopic Heller myotomy + fundoplication, or POEM; botulinum toxin or nitrates/CCBs if a poor surgical candidate
- Complication: increased risk of esophageal squamous cell carcinoma
Vignette: A 45-year-old woman reports 14 months of trouble swallowing both solids and liquids, regurgitation of undigested food onto her pillow at night, and 6 kg weight loss. Barium esophagram shows a dilated esophagus tapering to a distal 'bird's beak.'
Diagnosis: Achalasia.
Next best step:
- Upper endoscopy first — exclude pseudoachalasia (GEJ tumor), especially with older age, short duration, or marked weight loss.
- Esophageal manometry to confirm — shows aperistalsis and incomplete LES relaxation (elevated IRP); this is the diagnostic gold standard.
- Definitive therapy: pneumatic dilation, Heller myotomy, or POEM.
Progressive dysphagia + weight loss in an older adult
- Two histologies:
- Squamous cell carcinoma (SCC): proximal/mid esophagus; risk = smoking + alcohol (synergistic), hot beverages, achalasia, lye/caustic strictures, Plummer-Vinson, dietary nitrosamines; most common type worldwide
- Adenocarcinoma: distal ⅓/GEJ; arises from GERD → Barrett esophagus (intestinal metaplasia with goblet cells); risk = obesity, smoking; most common in the US/West
- Presentation: progressive dysphagia (solids → liquids), weight loss, odynophagia, iron-deficiency anemia; hoarseness (recurrent laryngeal nerve invasion) signals advanced disease
- Diagnosis: upper endoscopy with biopsy is definitive
- Staging: endoscopic ultrasound (EUS) for T/N depth; CT chest/abdomen + PET for metastases
- Management: stage-dependent — endoscopic resection for early mucosal disease; esophagectomy ± neoadjuvant chemoradiation for locally advanced; prognosis is generally poor
SCC vs Adenocarcinoma
| Feature | Squamous cell carcinoma | Adenocarcinoma |
|---|---|---|
| Location | Upper / mid (proximal ⅔) | Lower ⅓ / GE junction |
| Precursor | Chronic irritation / dysplasia | Barrett esophagus (from GERD) |
| Key risk factors | Smoking, alcohol, hot liquids, achalasia, lye strictures, Plummer-Vinson | GERD, Barrett, obesity, smoking |
| Epidemiology | Most common worldwide | Most common in US / West |
| Diagnosis | Endoscopy + biopsy | Endoscopy + biopsy |
Vignette: A 58-year-old man with alcohol-related cirrhosis presents with large-volume painless hematemesis and melena. BP 88/56, HR 122; he has spider angiomata and ascites.
Diagnosis: Bleeding esophageal varices from portal hypertension.
Next best step (in order):
- Resuscitate: two large-bore IVs, crystalloid; restrictive transfusion to Hgb ~7 g/dL; protect the airway (intubate if massive bleeding or altered mental status).
- Octreotide (splanchnic vasoconstriction) + IV ceftriaxone — prophylactic antibiotics reduce mortality and rebleeding.
- Urgent EGD within 12 h with endoscopic band ligation — first-line hemostasis.
- Refractory bleeding: balloon tamponade as a bridge → TIPS.
- Pathophys: cirrhosis → portal hypertension → backflow through the left gastric (coronary) vein into esophageal veins → dilated submucosal veins in the distal esophagus that rupture and bleed
- Acute bleed bundle: airway + resuscitation, restrictive transfusion (Hgb goal ~7), octreotide, ceftriaxone, endoscopic band ligation; TIPS for uncontrolled/refractory bleeding
- Antibiotics are not optional — IV ceftriaxone lowers mortality (infection/SBP prevention) and rebleeding
- Primary prophylaxis (varices that have never bled): nonselective beta-blocker (propranolol, nadolol, or carvedilol) OR endoscopic band ligation
- Secondary prophylaxis (after a bleed): NSBB + serial band ligation together
- Avoid over-transfusion: a Hgb target above ~9 raises portal pressure and worsens rebleeding
The dysphagia discriminator (classic board rule):
- Solids only, progressive → mechanical obstruction — cancer, peptic stricture, Schatzki ring
- Solids AND liquids from the start → motility disorder — achalasia, scleroderma
Sign associations to lock in:
- 'Bird's beak' on barium = achalasia
- Barrett = intestinal metaplasia with goblet cells → adenocarcinoma (distal esophagus)
- Alcohol → SCC; obesity/GERD → adenocarcinoma; smoking → both
Plummer-Vinson triad: dysphagia + esophageal web + iron-deficiency anemia (classically middle-aged women) → predisposes to squamous cell carcinoma.
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