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Diseases of the Esophagus

Chapter 334 | Part 10 – Gastrointestinal Disorders · Part 10 – Gastrointestinal Disorders · Chapter 334

Key Clinical Points

  1. Heartburn is the most common esophageal symptom, strongly associated with GERD.
  2. Dysphagia for solids suggests structural issues (stricture, web, ring, or tumor); dysphagia for both liquids and solids suggests a motility disorder like achalasia.
  3. Achalasia is characterized by impaired LES relaxation and absent peristalsis; diagnosis requires manometry and endoscopy to exclude pseudoachalasia.
  4. Barrett's esophagus is defined by intestinal metaplasia (goblet cells) in the distal esophagus and carries a risk of adenocarcinoma.
  5. Hiatal hernias are classified into four types: Type I (sliding, ~95%) and Types II-IV (paraesophageal, risk of volvulus).
  6. Schatzki ring (B ring) is a thin membrane at the squamocolumnar junction causing intermittent solid food dysphagia; treated by dilation.
  7. Pneumatic dilation and laparoscopic Heller myotomy are the only durable therapies for achalasia; POEM is an emerging endoscopic alternative.
  8. GERD pathophysiology involves anatomical distortion (hiatal hernia) and physiological factors like transient LES relaxations.
  9. Extraesophageal GERD manifestations (cough, asthma) are often associated but causality is debated; objective reflux testing is indicated for atypical symptoms.
  10. Esophageal cancer is shifting from squamous cell to adenocarcinoma, which is linked to GERD and Barrett's metaplasia.

DEFINITION & OVERVIEW

• Heartburn (Pyrosis): Most common esophageal symptom Characterized by burning sensation behind the sternum, often after eating or during exercise Relieved by water or antacids Strongly associated with GERD • Regurgitation: Effortless return of food/fluid into pharynx without nausea/retching Often contains sour or burning fluid Distinguished from vomiting (preceded by nausea) and rumination (repetitive behavior) • Chest Pain: Common symptom; often similar to cardiac pain due to shared nerve plexuses Usually a pressure-type sensation in the mid chest Most common cause is gastroesophageal reflux • Dysphagia: Feeling of food 'sticking' or lodging in the chest Solid food only: Suggests structural issues (stricture, web, ring, or tumor) Liquid and solid food: Suggests motility disorders (e.g., achalasia) • Odynophagia: Pain caused by or exacerbated by swallowing More common with pill or infectious esophagitis than reflux esophagitis • Globus Sensation: Perception of a lump/fullness in the throat regardless of swallowing Often relieved by swallowing; frequently associated with GERD Also known as 'globus hystericus'; often linked to anxiety or OCD • Water Brash: Excessive salivation from vagal reflex due to mucosal acidification Characterized by mouth filling with salty thin fluid

EPIDEMIOLOGY

• GERD Prevalence: Estimated to affect 10–15% of adults in the US • Esophageal Cancer: Rising incidence, especially adenocarcinoma linked to GERD and Barrett's metaplasia Adenocarcinoma: ~9200 cases in 2020 (half of all esophageal cancers); increased sixfold in 20 years Demographics: Adenocardinoma: Predominantly distal esophagus, white males Squamous cell carcinoma: More proximal, black males; linked to smoking, alcohol, caustic injury, and HPV • Achalasia: Rare disease; incidence 1–3 per 100,000 Presentation typically between ages 25 and 60 • Hiatal Hernia: Type I (sliding) comprises ~95% of cases Incidence of sliding hernia increases with age

ETIOLOGY & PATHOPHYISIOLOGY

• Motility Disorders: Include achalasia, distal esophageal spasm (DES), and GERD May be secondary to systemic diseases: pseudoachalasia, Chagas' disease, or scleroderma• Achalasia Pathophysiology: Mechanism: Autoimmune-mediated death of ganglion cells in the myenteric plexus Cause: Likely autoimmune process from latent HSV-1 infection + genetic susceptibility Clinical features: Impaired deglutitive LES relaxation, absent peristalsis, and progressive dilation• GERD Pathophysiology: Mechanism: Interaction between anatomical distortion (hiatal hernia) and physiology Anatomic Factors: 1. Widened diaphragmatic hiatus + diminished crural diaphragm function 2. Loss of intraabdominal esophageal segment (loss of flap valve) 3. Axial hiatal hernia (reflux during inspiration/straining) 4. Increased compliance of GEJ (widened opening during transient LES relaxations) Clearance Factors: Refurged fluid cleared by peristalsis and bicarbonate in saliva Impaired clearance caused by: 1. Impaired peristaltic emptying; 2. Reduced salivation• Hiatal Hernia Pathophysiology: Sliding (Type I): GEJ and gastric cardia move cephalad due to weakened phrenoesophageal ligament Paraesophageal (Types II, III, IV): Viscera above the gastric cardia herniate into mediastinum Risk: Type II and III can lead to 'upside down stomach', gastric volvulus, or strangulation

CLINICAL FEATURES

• Cancer Presentation: Progressive solid food dysphagia and weight loss Potential complications: Odynophagia, iron deficiency, cough (tracheoesophageal fistula), hoarseness (laryngeal nerve injury) • Benign Tumors: Rare; usually incidental findings Examples: Gastrointestinal stromal tumors, leiomyoma, fibrovascular polyps, squamous papilloma, granular cell tumors, lipomas, mesenchymal neoplasms, inflammatory fibroid polyps• Structural Disorders: Schatzki Ring (B ring): Thin membrane at squamocolumnar junction; causes intermittent solid food dysphagia Treatment: Dilation Esophageal Webs: Higher in esophagus; can be congenital or inflammatory Plummer-Vinson (Paterson-Kelly) Syndrome: Combination of symptomatic proximal webs and iron-deficiency anemia in middle-aged women• Diverticula: Zenker's: False diverticulum at Killian's triangle; caused by stenotic cricopharyngeus muscle Symptoms: Dysphagia, halitosis, aspiration (if large) Epiphrenic: False diverticula; often associated with achalasia or DES Midesophageal: True diverticula (all layers) if caused by traction from inflammation (TB, histoplasmosis) • Congenital Anomalies: Esophageal Atresia: Failure of fusion; often associated with tracheoesophageal fistula Dysphagia Lusoria: Extrinsic compression by aberrant right subclavian artery or vascular rings

DIFFERENTIAL DIAGNOSIS

• GERD vs. Others: Must rule out: Infectious/pill esophagitis, EoE, peptic ulcer disease, dyspepsia, biliary colic, coronary artery disease Endoscopic Differentiation: Peptic esophagitis: Few, distal ulcerations Infectious: Numerous, punctate, diffuse ulcerations EoE: Edema, rings, linear furrows, white punctate exudate, strictures Pill esophagitis: Singular, deep ulcers at points of luminal narrowing (near carina) • Achalasia vs. Others: Distinction from: DES, Chagas' disease, opioid-induced dysmotility, and pseudoachalasia Chagas' Disease: Endemic in Central Brazil/Venezuela; caused by Trypanosoma cruzi (kissing bug) Result: Destruction of autonomic ganglion cells in heart, gut, urinary tract

DIAGNOSTIC APPROACH

  1. Achalasia Diagnosis: Step 1: Manometry → identify impaired LES relaxation and absent peristalsis Step 2: Endoscopy → rule out pseudoachalasia (tumor at GEJ)
  2. GERD Diagnosis: Step 1: Clinical history of heartburn/regurgitation Step 2: Endoscopy → identify erosive esophagitis in ~1/3 of patients Step 3: Biopsy → differentiate infectious or eosinophilic inflammation3. Hiatal Hernia Diagnosis: Step 1: Radiographic imaging → determine position of B ring and presence of rugal folds to assess GEJ location

MANAGEMENT & TREATMENT

  1. Achalasia Treatment:
  2. Pneumatic dilation
  3. Laparoscopic Heller myotomy (only durable therapies)
  4. POEM (emerging endoscopic alternative)
  5. GERD Treatment: Step 1: Acid suppression (first-line therapy)
  6. Diverticula Treatment: Zenker's: Surgical diverticulectomy and cricopharyngeal myotomy OR transoral, endoscopic myotomy Epiphrenic: Surgical removal (often with myotomy) if large4. Schatzki Ring: Treatment: Dilation

COMPLICATIONS & PROGNOSIS

• AchalSia Complications: Progressive dilation → risk of bronchitis, pneumonia, or lung abscess from aspiration Advanced disease → potential for pseudoachalasia (malignancy) • GERD Complications: Erosive esophagitis → esophageal stricture (scarring/narrowing) Chronic inflammation → Barrett's metaplasia → adenocarcinoma

SPECIAL CONSIDERATIONS

• Pseudoachalasia: Condition where malignancy at the GEJ mimics achalasia; requires endoscopic evaluation• Psychiatric Comorbidities: Globus sensation often associated with anxiety or obsessive-compulsive disorders• Extraesophageal GERD: Manifestations (cough, asthma) are often associated but causality is debated; objective reflux testing is indicated for atypical symptoms.

KEY PEARLS & CLINICAL TRAPS

• Heartburn is the primary indicator for GERD; its presence justifies empirical acid suppression. • Dysphagia Type: Solid only → structural (stricture/ring); Liquid + Solid → motility (achalasia). • Schatzki Ring: A 'B ring' at the squamocolymar junction causing intermittent solid food dysphagia; treated by dilation. • Barrett's Esophagus: Defined by intestinal metaplasia (goblet cells) in the distal esophagus; a precursor to adenocarcinoma. • Hiatal Hernia Types: Type I is sliding (~95%); Type II-IV are paraesophageal and carry risk of volvulus. • Achalasia Diagnosis: Requires manometry for motility assessment and endoscopy to rule out malignancy (pseudoachalasia). • Endoscopic Differentiation: Essential for distinguishing peptic, infectious, and pill esophagitis based on ulcer location/morphology.\ • Bile in GERD: Bile persists in refluxate despite acid-suppressing medications; can cause severe cellular injury.