3.1 Esophageal Disease

Upper gastrointestinal disorders represent a major portion of the ABIM Internal Medicine examination. Mastery of these topics requires understanding exact diagnostic criteria, guideline-directed surveillance intervals, modern pharmacotherapy, and algorithmic emergency resuscitation.

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1. Esophageal Disorders

Gastroesophageal Reflux Disease (GERD)

Gastroesophageal Reflux Disease (GERD) occurs when gastric contents flow retrograde into the esophagus, causing troublesome symptoms (heartburn, acid regurgitation) or mucosal injury (erosive esophagitis, strictures, Barrett esophagus).

Diagnostic Approach

• Typical Symptoms (Heartburn, Acid Regurgitation): Clinical diagnosis is sufficient. Initiate an empiric trial of once-daily oral Proton Pump Inhibitor (PPI, e.g., Omeprazole 20–40 mg, Pantoprazole 40 mg, or Esomeprazole 40 mg) taken 30–60 minutes before breakfast for 4 to 8 weeks.
• Lifestyle Modifications: Weight loss in overweight/obese patients, head-of-bed elevation (6–8 inches), avoidance of late-evening meals (within 2–3 hours of sleeping), and elimination of trigger foods (caffeine, chocolate, alcohol, citrus, spicy/fatty foods).
• Indications for Early Esophagogastroduodenoscopy (EGD):
  1. Red Flag / Alarm Symptoms: Progressive dysphagia, odynophagia, persistent vomiting, unintentional weight loss, evidence of GI bleeding, or unexplained iron deficiency anemia.
  2. Refractory Symptoms: Persistence of classic symptoms despite 8 weeks of optimized twice-daily PPI therapy.
  3. Barrett Esophagus Screening: Men aged >50 years with chronic GERD symptoms (>5 years) and $\ge 2$ additional risk factors: Caucasian race, central adiposity (elevated BMI/waist circumference), current/past history of tobacco smoking, or a first-degree family history of Barrett esophagus or esophageal adenocarcinoma.

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Barrett Esophagus

Barrett Esophagus is the replacement of normal stratified squamous epithelium of the distal esophagus by specialized intestinal metaplasia containing goblet cells, predisposing to esophageal adenocarcinoma.

Normal Stratified Squamous Epithelium ➔ Specialized Intestinal Metaplasia (Goblet Cells) ➔ Low-Grade Dysplasia ➔ High-Grade Dysplasia ➔ Esophageal Adenocarcinoma

Endoscopic & Histopathologic Surveillance

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Eosinophilic Esophagitis (EoE)

Eosinophilic Esophagitis is a chronic, immune-mediated, antigen-driven inflammatory disorder of the esophagus.

• Clinical Presentation: Typically affects young adults (males > females, ages 20–40) with a history of atopy (asthma, allergic rhinitis, atopic dermatitis, food allergies). Presenting complaints include progressive dysphagia to solid foods, recurrent food impactions requiring emergency endoscopic disimpaction, central chest pain, and refractory heartburn.
• Diagnostic Criteria:
  1. Symptoms of esophageal dysfunction.
  2. Endoscopic biopsy demonstrating $\ge 15$ eosinophils per high-power field (HPF) in one or more mucosal biopsy specimens (from proximal and distal esophagus).
  3. Exclusion of secondary causes of esophageal eosinophilia (eosinophilic gastroenteritis, Crohn disease, achalasia, infection, hypereosinophilic syndrome).
• Endoscopic Findings: Concentric circular rings ("trachealization" or "feline esophagus"), linear vertical furrows, white plaques/exudates (eosinophil microabscesses), strictures, and mucosal fragility ("crepe-paper" mucosa).
• Treatment Modalities:
  • Swallowed Topical Corticosteroids: Fluticasone propionate (swallowed from MDI without a spacer, 440–880 mcg BID) or oral viscous Budesonide slurry (1–2 mg daily mixed with Splenda/sucralose) for an initial 8–12 week induction course.
  • High-Dose PPI: E.g., Omeprazole 20–40 mg BID (acts both by reducing acid and downregulating Th2 inflammatory cytokine eotaxin-3).
  • Dietary Elimination: Empiric 6-food elimination diet (dairy, wheat, eggs, soy, nuts, seafood) or 2-food elimination diet (dairy and gluten).
  • Biologic Therapy: Dupilumab (monoclonal antibody targeting IL-4 receptor alpha, blocking IL-4 and IL-13 signaling), subcutaneous weekly injection approved for adults and adolescents $\ge 12$ years with refractory EoE.
  • Endoscopic Dilation: Gentle balloon dilation for symptomatic fibrostenotic strictures.

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Esophageal Motility Disorders

Dysphagia to Solids ONLY ➔ Mechanical Obstruction (Schatzki ring, Peptic stricture, Esophageal Cancer)
Dysphagia to Solids AND Liquids ➔ Neuromuscular / Motility Disorder (Achalasia, Diffuse Esophageal Spasm, Scleroderma)

Achalasia

• Pathophysiology: Autoimmune inflammatory degeneration of inhibitory ganglion cells within the myenteric (Auerbach's) plexus, resulting in loss of nitric oxide and vasoactive intestinal peptide (VIP) release. This causes failure of the Lower Esophageal Sphincter (LES) to relax and absence of peristalsis in the esophageal body.
• Clinical Features: Insidious, progressive dysphagia to both solids and liquids, regurgitation of undigested food and saliva, nocturnal cough, non-cardiac chest pain, and weight loss.
• Diagnostic Workup:
  • Barium Esophagram (Swallow): Dilated esophageal body with smooth, symmetrical, tapered narrowing at the gastroesophageal junction ("bird's beak" sign).
  • High-Resolution Manometry (HRM - Gold Standard): Elevated Integrated Relaxation Pressure (IRP >15 mmHg), indicating incomplete LES relaxation, and 100% aperistalsis in the distal esophageal body.
    • Chicago Classification Subtypes: Type I (Classic, absent pressurization), Type II (Panesophageal pressurization; best clinical response to treatment), Type III (Spastic/premature contractions).
  • Mandatory EGD: Must be performed in all patients to rule out Pseudoachalasia (secondary achalasia caused by adenocarcinoma of the gastric cardia or distal esophagus invading the myenteric plexus, especially in patients >60 years old with rapid symptom onset <6 months and severe weight loss).
• Therapeutic Interventions:
  • Low Surgical Risk: Graded Pneumatic Balloon Dilation (30 mm, 35 mm, 40 mm), Laparoscopic Heller Myotomy with partial fundoplication (Dor or Toupet), or Peroral Endoscopic Myotomy (POEM).
  • High Surgical Risk / Frail: Endoscopic injection of Botulinum toxin into the LES (temporary efficacy 6–12 months), or oral smooth muscle relaxants (calcium channel blockers, nitrates) before meals.

Diffuse Esophageal Spasm (Distal Esophageal Spasm)

• Pathophysiology: Uncoordinated, high-amplitude, simultaneous esophageal contractions caused by impaired inhibitory neural signaling.
• Clinical Presentation: Intermittent non-cardiac retrosternal chest pain (mimicking angina) and dysphagia to both solids and liquids, often precipitated by ingestion of very hot or ice-cold liquids or emotional stress.
• Diagnostics: Barium swallow demonstrates a "corkscrew" or "rosary bead" esophagus. High-resolution manometry reveals normal IRP with $\ge 20%$ premature contractions (distal latency <4.5 seconds).
• Treatment: Calcium channel blockers (Diltiazem 60–90 mg TID), sublingual nitroglycerin PRN, tricyclic antidepressants (Imipramine 25–50 mg qhs for visceral pain neuromodulation), and peppermint oil.

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