Medical School · Year 2 · Gastrointestinal · includes a quiz and discussion video

Lecture 5: Esophageal Disorders

Unit 2.2: Gastrointestinal System

Learning Objectives

By the end of this lecture, students will be able to:

1. Describe the pathophysiology and management of gastroesophageal reflux disease
2. Explain Barrett's esophagus and its relationship to esophageal adenocarcinoma
3. Describe esophageal motility disorders including achalasia
4. Explain the causes and management of esophagitis
5. Describe structural disorders including strictures and webs
6. Explain the approach to dysphagia

Lecture Content

Gastroesophageal Reflux Disease

Gastroesophageal reflux disease (GERD) is defined as the reflux of gastric contents into the esophagus that causes troublesome symptoms or complications. This remarkably common condition affects 10-20% of adults in Western countries and significantly impacts quality of life. Risk factors include obesity (which increases intra-abdominal pressure), hiatal hernia, pregnancy, smoking, and certain dietary habits.

The pathophysiology of GERD involves a failure of the antireflux barrier at the gastroesophageal junction. The lower esophageal sphincter (LES) normally maintains a pressure zone that prevents gastric contents from refluxing upward. Transient LES relaxations—brief periods of sphincter relaxation unrelated to swallowing—are the most common mechanism of reflux in patients with normal LES pressure. Some patients have a hypotensive LES with chronically low basal pressure. Hiatal hernia, where the gastric cardia protrudes above the diaphragm, disrupts the anatomic antireflux mechanism and correlates strongly with erosive esophagitis. Delayed gastric emptying increases gastric distension and the volume available for reflux. Even after reflux occurs, impaired esophageal clearance (weak peristalsis, reduced saliva) prolongs acid exposure.

The classic symptoms are heartburn—a burning sensation rising in the chest, typically worse after meals and when lying down—and regurgitation—the effortless return of gastric contents into the pharynx. Dysphagia may develop, suggesting erosive esophagitis or stricture formation. GERD-related chest pain can be indistinguishable from cardiac angina and requires appropriate evaluation to exclude coronary disease. Extraesophageal manifestations include chronic cough, hoarseness (from laryngeal irritation), asthma exacerbations, and dental erosions—these may occur without classic heartburn.

Diagnosis is usually clinical for patients with typical symptoms. An empiric trial of proton pump inhibitor (PPI) therapy that relieves symptoms supports the diagnosis. Endoscopy is indicated for alarm symptoms (dysphagia, weight loss, anemia, vomiting), treatment failure, or symptoms present for more than 10 years (to screen for Barrett's esophagus). Ambulatory pH monitoring (catheter-based or wireless capsule) quantifies esophageal acid exposure and correlates symptoms with reflux episodes—particularly valuable for patients with refractory symptoms or before antireflux surgery. Esophageal manometry excludes motility disorders and is performed before surgical intervention.

<image>Panel A: Gastroesophageal junction anatomy with the LES illustrated as a zone of high pressure, showing three pathologic mechanisms including transient LES relaxations with inappropriate sphincter relaxation, hypotensive LES with chronically low basal pressure, and hiatal hernia with the stomach protruding above the diaphragm. Panel B: Symptom spectrum showing heartburn as a burning sensation in the chest, regurgitation as retrograde flow, and dysphagia from stricture narrowing of the esophageal lumen. Panel C: Extraesophageal manifestations including laryngeal irritation with hoarseness, pulmonary symptoms with chronic cough, and dental erosions from acid exposure. Panel D: Diagnostic approach showing empiric PPI trial for typical symptoms, endoscopy for alarm features or prolonged symptoms, ambulatory pH monitoring with catheter and wireless capsule, and manometry with LES pressure tracing.</image>

GERD Management

Management of GERD begins with lifestyle modifications. Weight loss in overweight patients reduces intra-abdominal pressure and decreases reflux episodes. Elevating the head of the bed (using blocks under the bed frame, not just pillows) reduces nocturnal reflux by maintaining the gravitational barrier. Avoiding meals within 3 hours of bedtime allows gastric emptying before recumbency. Avoiding dietary triggers—though individual sensitivity varies—commonly includes fatty foods (which slow gastric emptying), chocolate, caffeine, and alcohol. Smoking cessation is recommended because nicotine decreases LES pressure.

Pharmacotherapy forms the cornerstone of GERD treatment. Antacids (calcium carbonate, magnesium/aluminum hydroxide) provide rapid but temporary relief by neutralizing gastric acid. Histamine H2 receptor antagonists (famotidine) reduce acid secretion moderately and were once first-line therapy but are now largely superseded by PPIs. Proton pump inhibitors (omeprazole, pantoprazole, esomeprazole) irreversibly inhibit the gastric H⁺/K⁺-ATPase, providing the most potent acid suppression. PPIs should be taken 30-60 minutes before a meal to maximize efficacy, as they target actively secreting parietal cells. Initial therapy typically lasts 4-8 weeks, after which many patients can step down to on-demand use.

Long-term PPI use is safe for most patients but carries small risks that warrant consideration. Vitamin B12 deficiency may develop because acid is needed to release B12 from food proteins. Hypomagnesemia occurs rarely but can be severe. Clostridioides difficile infection risk is modestly increased. Observational studies suggest small increases in hip fracture risk with prolonged use. These risks must be balanced against the substantial benefits of acid suppression in patients with documented GERD.

Surgical options are reserved for select patients. Laparoscopic Nissen fundoplication wraps the gastric fundus around the LES, reinforcing the antireflux barrier. Indications include refractory GERD, large hiatal hernias, medication intolerance, or patient preference to avoid long-term medication. The LINX device uses magnetic beads to augment LES pressure while allowing swallowing. Transoral incisionless fundoplication (TIF) creates a fundoplication endoscopically without incisions.

Patients with refractory GERD require careful evaluation. First, assess medication compliance—is the PPI being taken correctly, 30-60 minutes before a meal? Ambulatory pH monitoring while on therapy can determine whether acid breakthrough is occurring. Alternative diagnoses should be considered, including eosinophilic esophagitis (which can cause heartburn) and functional heartburn (symptoms without pathologic reflux). True refractory GERD documented by testing may benefit from surgery.

<image>Panel A: Lifestyle modifications including weight loss, head of bed elevation by 6-8 inches, avoiding meals within 3 hours of bedtime, dietary trigger avoidance, and smoking cessation. Panel B: Pharmacotherapy pyramid with antacids at the base providing rapid but temporary relief, H2 receptor antagonists in the middle providing moderate acid suppression, and PPIs at the top as the most effective agents dosed 30 minutes before meals, with a side panel listing long-term PPI considerations including B12 deficiency, hypomagnesemia, C. difficile risk, and fracture risk. Panel C: Surgical options showing Nissen fundoplication with the gastric fundus wrapped around the LES, LINX magnetic bead device augmenting LES pressure, and transoral incisionless fundoplication as an endoscopic approach. Panel D: Refractory GERD evaluation flowchart including medication compliance assessment, pH monitoring on therapy, consideration of alternative diagnoses such as eosinophilic esophagitis and functional heartburn, and surgical referral for documented refractory disease.</image>

Barrett's Esophagus

Barrett's esophagus represents an adaptive response to chronic acid and bile reflux injury, where the normal stratified squamous epithelium of the distal esophagus is replaced by specialized intestinal-type columnar epithelium containing goblet cells. This metaplastic change affects 5-15% of patients with chronic GERD and is significant because it is a premalignant condition—the major risk factor for esophageal adenocarcinoma.

The pathophysiology follows a stepwise progression. Chronic reflux injury damages and inflames the squamous epithelium. During healing, pluripotent stem cells differentiate into columnar rather than squamous cells—an adaptation that provides better resistance to acid injury. The presence of goblet cells distinguishes true Barrett's (intestinal metaplasia) from other types of columnar metaplasia. Over time, genetic alterations may accumulate, producing dysplasia (cellular atypia with disordered architecture) that can progress to invasive adenocarcinoma.

Risk factors for Barrett's parallel those for severe GERD. Longer duration and greater severity of reflux symptoms correlate with Barrett's risk. Central obesity is strongly associated, independent of overall body mass. Male sex confers approximately twice the risk of females. White race has higher prevalence than Black or Asian populations. Smoking is an independent risk factor. Family history of Barrett's or esophageal adenocarcinoma increases risk.

The progression to cancer follows a predictable sequence, but the annual risk at each stage is relatively low. Patients with Barrett's but no dysplasia progress to cancer at approximately 0.2-0.5% per year. Low-grade dysplasia increases the annual risk to 0.5-1%. High-grade dysplasia carries a 5-10% annual risk of progression to adenocarcinoma. This risk stratification guides surveillance intensity.

<image>Panel A: Histologic progression from normal pink stratified squamous epithelium to columnar epithelium with goblet cells containing mucin vacuoles, labeled as intestinal metaplasia, with an inset showing dysplasia with disordered architecture and cellular atypia progressing to adenocarcinoma invading beyond the basement membrane. Panel B: Risk factors for Barrett's esophagus including duration of GERD, central obesity, male sex with 2-fold increased risk, white race, smoking, and family history. Panel C: Annual progression rates shown as a stepped diagram with no dysplasia at 0.2-0.5% per year, low-grade dysplasia at 0.5-1% per year, and high-grade dysplasia at 5-10% per year progressing to cancer. Panel D: Endoscopic appearance showing salmon-colored tongues of metaplastic tissue extending proximally from the gastroesophageal junction into the normally pale squamous esophagus.</image>

Barrett's Esophagus Management

Screening for Barrett's esophagus is recommended in patients with chronic GERD (more than 5 years of symptoms) who have multiple additional risk factors: age over 50, male sex, white race, obesity, smoking, or family history. Screening is performed with upper endoscopy and systematic four-quadrant biopsies every 1-2 cm within the Barrett's segment. Screening the general GERD population is not cost-effective and is not recommended.

Surveillance intervals depend on the degree of dysplasia. Patients with Barrett's without dysplasia undergo surveillance every 3-5 years. If low-grade dysplasia is detected, the diagnosis should first be confirmed by an expert GI pathologist (there is significant interobserver variability), and then surveillance is intensified to every 6-12 months—or endoscopic therapy may be offered. High-grade dysplasia warrants treatment rather than continued surveillance due to the substantial cancer risk.

Medical management of Barrett's includes aggressive acid suppression with PPIs, which reduces further injury and may slow progression. However, PPIs do not cause regression of established Barrett's epithelium and do not eliminate cancer risk. Patients must continue surveillance even on optimal acid suppression.

Endoscopic therapies can eradicate Barrett's epithelium and eliminate dysplasia, reducing cancer risk. Radiofrequency ablation (RFA) uses a balloon or paddle catheter to deliver thermal energy that destroys the metaplastic epithelium. With ongoing acid suppression, the ablated area regenerates as normal squamous epithelium. Endoscopic mucosal resection (EMR) removes visible nodules or raised lesions before ablation, allowing histologic staging of any focal cancer. Cryotherapy uses extreme cold to destroy tissue. For Barrett's with high-grade dysplasia or intramucosal carcinoma (cancer confined to the mucosa without lymphatic invasion), endoscopic eradication therapy is typically preferred over esophagectomy due to lower morbidity.

After successful eradication, patients require ongoing surveillance because recurrence can occur, particularly at the gastroesophageal junction. The goal of therapy is to eliminate the premalignant tissue before it can progress to invasive cancer.

<image>Panel A: Screening criteria showing chronic GERD for more than 5 years plus multiple risk factors including age over 50, male sex, white race, obesity, smoking, and family history, leading to upper endoscopy with systematic four-quadrant biopsies. Panel B: Surveillance strategy based on histologic findings with no dysplasia requiring repeat in 3-5 years, low-grade dysplasia confirmed by expert pathologist requiring 6-12 month follow-up or treatment, and high-grade dysplasia requiring treatment. Panel C: Endoscopic therapies including radiofrequency ablation with a balloon catheter applying thermal energy to the Barrett's segment, endoscopic mucosal resection removing nodular lesions for histologic examination, and tissue regenerating as squamous epithelium after ablation with acid suppression. Panel D: Outcomes showing the eradication goal of eliminating dysplastic and metaplastic tissue, post-ablation surveillance required due to recurrence risk, and surgery reserved for invasive cancer or treatment failure.</image>

Achalasia

Achalasia is the best-characterized primary esophageal motility disorder, defined by two cardinal features: failure of the lower esophageal sphincter to relax with swallowing and absence of esophageal body peristalsis. The condition results from selective loss of inhibitory neurons (which release nitric oxide and VIP) in the myenteric plexus of the LES and distal esophagus. Without inhibitory input, the LES remains tonically contracted and cannot relax to allow bolus passage.

The etiology is usually idiopathic (primary achalasia), with an autoimmune mechanism suspected based on inflammatory infiltrates in the myenteric plexus and associations with HLA antigens. Secondary achalasia can result from Chagas disease (Trypanosoma cruzi infection, endemic in South America), which destroys enteric neurons, or from malignancy at the gastroesophageal junction that mimics achalasia (pseudoachalasia). The incidence is approximately 1 per 100,000 per year, with equal sex distribution and presentation typically in middle adulthood.

Symptoms reflect the functional obstruction. Dysphagia affects both solids and liquids from the outset—this distinguishes achalasia from mechanical obstruction (such as stricture or cancer), where solid dysphagia precedes liquid dysphagia as the obstruction progressively narrows. Regurgitation of undigested food occurs because material pools in the dilated esophagus. Chest pain may be prominent, particularly in early disease with vigorous contractions. Weight loss develops with progressive disease. Aspiration of retained esophageal contents can cause recurrent pneumonia.

Diagnosis relies on demonstrating the characteristic findings. Barium swallow reveals a dilated esophagus with smooth tapering at the gastroesophageal junction—the classic "bird's beak" appearance. Esophageal manometry is definitive, showing incomplete LES relaxation (elevated integrated relaxation pressure) and absent or weak peristalsis in the esophageal body. High-resolution manometry has improved diagnostic accuracy and allows subclassification (Types I, II, and III) that predicts treatment response. Upper endoscopy is essential to exclude malignancy causing pseudoachalasia—a tight gastroesophageal junction that gives way with gentle pressure ("pop") favors achalasia, while a fixed obstruction suggests tumor.

<image>Panel A: Pathophysiology showing the myenteric plexus with absent or damaged inhibitory neurons that normally release nitric oxide and VIP, while excitatory neurons remain intact, resulting in unopposed LES contraction and absent swallow-initiated relaxation. Panel B: Clinical features including dysphagia to both solids and liquids from onset distinguishing achalasia from mechanical obstruction, regurgitation of undigested food, chest pain particularly in early disease, weight loss, and aspiration pneumonia. Panel C: Diagnostic findings showing barium swallow with a dilated esophagus and classic bird's beak tapering at the GE junction, and manometry tracing with elevated LES pressure without relaxation and absent peristalsis in the esophageal body. Panel D: Endoscopic view showing retained food debris and a tight but traversable junction, with secondary causes noted including Chagas disease and pseudoachalasia from malignancy at the gastroesophageal junction.</image>

Achalasia Treatment

Treatment aims to reduce LES pressure and allow gravity-assisted esophageal emptying—peristalsis cannot be restored. Options include pneumatic dilation, surgical myotomy, and peroral endoscopic myotomy (POEM), with similar efficacy; choice depends on patient factors and local expertise.

Pneumatic dilation uses progressively larger balloons (30, 35, 40 mm) inflated across the LES to disrupt the circular muscle fibers. The procedure is performed endoscopically and can be repeated if symptoms recur. Success rates of 70-90% are reported, though many patients require repeat dilations over time. The main risk is esophageal perforation (2-4%), which may require emergency surgery. Dilation may be preferred in older patients or those with surgical contraindications.

Laparoscopic Heller myotomy surgically divides the LES circular muscle (and sometimes longitudinal muscle) along the anterior surface, relieving the obstruction. A partial fundoplication (Dor or Toupet) is typically added to prevent postoperative reflux, which would otherwise occur in the majority of patients due to the now-incompetent LES. Success rates exceed 90%, with durable long-term results. This has been the gold standard surgical approach.

Peroral endoscopic myotomy (POEM) is a newer technique that achieves the same goal as surgical myotomy through a purely endoscopic approach. A submucosal tunnel is created from the mid-esophagus to below the LES, and the circular muscle is divided within the tunnel. POEM offers similar efficacy to Heller myotomy with faster recovery. Because no fundoplication is performed, postoperative reflux is more common and requires PPI therapy. POEM has become increasingly popular and is now a first-line option at experienced centers.

Botulinum toxin injection into the LES inhibits acetylcholine release, weakening LES contraction. This provides temporary relief (months) and is reserved for patients who are poor candidates for definitive therapy. Medications (calcium channel blockers, nitrates) have limited efficacy and are rarely used as primary treatment.

All treatments carry some risk of postprocedure gastroesophageal reflux, particularly myotomy without fundoplication. Symptom recurrence is common long-term with any approach. Patients with long-standing achalasia have increased esophageal cancer risk and may warrant surveillance.

<image>Panel A: Pneumatic dilation showing an endoscopic image of a balloon inflated across the LES with graded balloon sizes of 30, 35, and 40 mm, mechanism of circular muscle disruption illustrated, and success rates of 70-90% with 2-4% perforation risk noted. Panel B: Laparoscopic Heller myotomy showing the anterior myotomy incision dividing the LES circular muscle, with a partial Dor fundoplication wrapping the anterior stomach over the myotomy site to prevent postoperative reflux. Panel C: Peroral endoscopic myotomy showing submucosal tunnel creation from the mid-esophagus to below the LES, circular muscle division within the tunnel, and mucosal entry site closure, with a note about increased reflux requiring PPI therapy because no fundoplication is performed. Panel D: Comparative outcomes showing all three approaches achieving greater than 85% success, POEM having a higher reflux rate, dilation potentially requiring repeat procedures, and botulinum toxin injection as a temporary bridge for poor surgical candidates.</image>

Other Motility Disorders

Beyond achalasia, several other esophageal motility disorders can cause dysphagia and chest pain. High-resolution manometry has improved classification and diagnosis of these conditions.

Diffuse esophageal spasm (DES) is characterized by premature, simultaneous contractions that are not coordinated in the normal peristaltic sequence. These spastic contractions cannot effectively propel a bolus. Manometry shows more than 20% of swallows producing simultaneous contractions with a "jackhammer" or spastic appearance. Barium swallow may show the classic "corkscrew" esophagus with multiple simultaneous contractions. Symptoms include intermittent dysphagia and chest pain that can be severe and mimic cardiac angina. Treatment is challenging; options include calcium channel blockers, nitrates, tricyclic antidepressants (trazodone), botulinum toxin injection, and POEM in refractory cases.

Jackhammer esophagus (hypercontractile esophagus) represents extreme-amplitude prolonged contractions, defined by a distal contractile integral (DCI) exceeding 8000 mmHg·cm·s—far above normal. These "nutcracker" contractions cause dysphagia and chest pain. Treatment parallels that of DES.

Esophagogastric junction outflow obstruction (EGJOO) is defined by elevated integrated relaxation pressure at the EGJ with preserved peristalsis—unlike achalasia, which has absent peristalsis. This pattern may represent early or incomplete achalasia, mechanical obstruction (stricture, eosinophilic esophagitis, tumor), or a variant of normalcy. The finding requires clinical correlation and often repeat testing.

Ineffective esophageal motility describes weak or failed peristaltic contractions that cannot effectively clear the esophagus. This pattern is commonly associated with GERD (impaired clearance worsens acid exposure) and may be seen with scleroderma or other connective tissue diseases that affect esophageal smooth muscle. Treatment focuses on the underlying condition.

<image>Panel A: Diffuse esophageal spasm showing manometry with simultaneous contractions at multiple levels in a spastic pattern, barium swallow with corkscrew appearance from multiple simultaneous indentations, and symptoms of intermittent dysphagia and chest pain. Panel B: Jackhammer esophagus showing manometry with extremely high-amplitude prolonged contractions and distal contractile integral exceeding 8000 mmHg-cm-s, with the same symptoms of dysphagia and chest pain but more intense contractions. Panel C: Esophagogastric junction outflow obstruction showing manometry with elevated EGJ pressure but preserved peristaltic sequence, with differential diagnosis including early achalasia, mechanical obstruction, and normal variant. Panel D: Ineffective esophageal motility showing weak or absent peristaltic waves on manometry, association with GERD and connective tissue diseases, with treatment options listed for each disorder including calcium channel blockers, nitrates, tricyclic antidepressants, botulinum toxin, and POEM for spastic disorders.</image>

Esophagitis

Inflammation of the esophageal mucosa occurs from several distinct mechanisms, each requiring specific management.

Eosinophilic esophagitis (EoE) is a chronic immune-mediated disease characterized by esophageal dysfunction and eosinophil-predominant inflammation. The defining histologic criterion is ≥15 eosinophils per high-power field on esophageal biopsy after excluding other causes of eosinophilia. EoE typically affects young men with a history of atopy (allergies, asthma, eczema), though it occurs across all ages. Symptoms include dysphagia, food impaction (a classic presentation), and heartburn that may not respond to PPIs.

Endoscopic findings in EoE are characteristic. Rings give the esophagus a corrugated appearance, sometimes called "trachealization" or "feline esophagus." Linear furrows run longitudinally along the mucosa. White exudates or plaques may be present. Strictures can develop with chronic disease. The esophagus may be fragile, with mucosal tears during dilation.

Treatment of EoE is multimodal. PPIs are first-line therapy, as some patients respond to acid suppression alone (previously called "PPI-responsive esophageal eosinophilia," now recognized as a form of EoE). Topical corticosteroids (swallowed fluticasone or budesonide slurry) are the mainstay for PPI non-responders, with the steroid coating the esophageal mucosa. Elimination diets (commonly a six-food elimination diet removing dairy, wheat, eggs, soy, nuts, and seafood) can induce remission, though patient adherence is challenging. Esophageal dilation treats fibrotic strictures. Dupilumab, an anti-IL-4/IL-13 biologic, is FDA-approved for EoE and represents a new therapeutic option.

Infectious esophagitis occurs primarily in immunocompromised patients. Candida esophagitis produces white plaques on the mucosa, resembling oral thrush; treatment is fluconazole. Herpes simplex virus causes vesicles that evolve into shallow, punched-out ulcers with raised edges ("volcano" appearance); treatment is acyclovir. Cytomegalovirus produces large, deep, linear ulcers in severely immunocompromised patients (especially AIDS); treatment is ganciclovir. HIV itself can cause large, idiopathic esophageal ulcers.

Pill esophagitis results from direct mucosal injury by medications lodged in the esophagus. Common culprits include doxycycline, NSAIDs, bisphosphonates, and potassium chloride. Patients present with sudden-onset odynophagia and dysphagia. Prevention involves taking pills with adequate water while sitting or standing upright for at least 30 minutes. Treatment is cessation of the offending agent and supportive care.

<image>Panel A: Eosinophilic esophagitis showing the typical demographic of a young atopic male, endoscopic images with concentric rings or trachealization, linear furrows, and white exudates, histology showing greater than 15 eosinophils per high-power field, and a treatment ladder from PPIs to swallowed steroids to elimination diet to dilation to dupilumab. Panel B: Infectious esophagitis in three columns showing Candida with white mucosal plaques in immunocompromised patients treated with fluconazole, herpes simplex virus with volcano-shaped ulcers with raised edges treated with acyclovir, and cytomegalovirus with deep linear ulcers in severely immunocompromised patients treated with ganciclovir. Panel C: Pill esophagitis showing common culprit medications including doxycycline, NSAIDs, bisphosphonates, and potassium chloride, with a localized ulcer at a site of esophageal narrowing. Panel D: Prevention of pill esophagitis with adequate water intake and remaining upright for at least 30 minutes after taking pills, alongside treatment by cessation of the offending agent and supportive care.</image>

Structural Disorders

Hiatal hernia is the protrusion of abdominal contents (typically stomach) through the esophageal hiatus of the diaphragm. Four types are recognized. Type I (sliding) hernias, comprising 95% of cases, involve cephalad displacement of the gastroesophageal junction and proximal stomach above the diaphragm—these predispose to GERD but are usually asymptomatic unless large. Type II (paraesophageal) hernias involve herniation of the gastric fundus alongside a normally positioned GE junction; these create a risk of incarceration and volvulus. Type III combines features of Types I and II. Type IV involves herniation of other organs (colon, spleen) along with the stomach. Large paraesophageal hernias warrant surgical repair due to complication risk, even in asymptomatic patients, though this is debated.

Esophageal strictures are narrowings that cause dysphagia. Peptic strictures develop from chronic GERD injury and fibrosis, typically in the distal esophagus. Radiation strictures follow thoracic radiation therapy. Caustic strictures result from ingestion of corrosive substances (lye, strong acids). Anastomotic strictures form at surgical anastomoses. EoE can cause strictures from chronic fibrotic remodeling. Treatment involves endoscopic dilation (bougie or balloon) along with treatment of the underlying cause; recurrent strictures may require repeated dilation or stenting.

Schatzki ring (B ring) is a thin, circumferential mucosal ring at the squamocolumnar junction that causes intermittent dysphagia to solids, classically with meat impaction. Symptoms typically occur when the ring narrows the lumen below 13 mm. Treatment is endoscopic dilation.

Esophageal webs are thin mucosal membranes in the cervical esophagus (unlike rings, which occur at the GE junction). Plummer-Vinson syndrome (Patterson-Brown-Kelly syndrome) combines esophageal webs, iron deficiency anemia, and dysphagia; treatment addresses iron deficiency and dilation of symptomatic webs. Webs may slightly increase esophageal cancer risk.

Zenker's diverticulum is a posterior pharyngeal outpouching above the cricopharyngeus muscle (upper esophageal sphincter), forming at Killian's triangle—an area of relative weakness. It is a "false" pulsion diverticulum (mucosa and submucosa herniate through the muscle, not all layers). Inadequate cricopharyngeal relaxation during swallowing creates increased pressure that pushes mucosa through the weak point. Symptoms include dysphagia, regurgitation of undigested food hours after eating, halitosis, and aspiration. Treatment is cricopharyngeal myotomy with or without diverticulectomy, performed surgically or endoscopically.

<image>Panel A: Hiatal hernia in sagittal view showing four types with Type I sliding hernia having the GE junction and fundus above the diaphragm causing GERD, Type II paraesophageal hernia with the fundus alongside a normally positioned GE junction risking incarceration and volvulus, Type III combining features of both, and Type IV with herniation of other organs. Panel B: Esophageal strictures showing an endoscopic view of a peptic stricture in the distal esophagus with balloon dilation demonstrated, and causes listed including peptic, radiation, caustic, and eosinophilic esophagitis. Panel C: Schatzki ring at the GE junction with luminal narrowing below 13 mm causing symptoms, alongside a cervical esophageal web and the Plummer-Vinson triad of web, iron deficiency anemia, and dysphagia. Panel D: Zenker's diverticulum showing a posterior view of the pharynx with Killian's triangle location, diverticulum protruding posteriorly above the cricopharyngeus muscle, and symptoms of dysphagia, regurgitation of undigested food, and halitosis.</image>

Esophageal Cancer

Esophageal cancer encompasses two main histologic types with distinct epidemiology and risk factors.

Adenocarcinoma arises from Barrett's esophagus in the distal esophagus and gastroesophageal junction. Its incidence has increased dramatically in Western countries over recent decades, paralleling rising rates of obesity and GERD. Risk factors are those for Barrett's esophagus: chronic GERD, obesity (particularly central adiposity), white race, and male sex. Smoking further increases risk. Adenocarcinoma now exceeds squamous cell carcinoma in the United States and Western Europe.

Squamous cell carcinoma arises from the native squamous epithelium and typically develops in the upper and middle esophagus. Risk factors include smoking and heavy alcohol use (which act synergistically), prior caustic injury, achalasia (due to chronic stasis and irritation), Plummer-Vinson syndrome, and nutritional deficiencies. Squamous carcinoma remains predominant in Asia and Africa, where smoking and alcohol are major contributors.

Clinical presentation is often late because the esophagus can accommodate substantial tumor growth before symptoms develop. Progressive dysphagia—first to solids, then to liquids as the obstruction worsens—is the classic symptom. Unintentional weight loss is common and ominous. Odynophagia suggests mucosal ulceration. Chest or back pain may indicate local invasion. Hoarseness from recurrent laryngeal nerve involvement suggests advanced disease. Symptoms often appear only when more than half the lumen is obstructed.

Diagnosis requires upper endoscopy with biopsy. Staging combines CT of chest and abdomen (for metastases), endoscopic ultrasound (for T and N staging with fine-needle aspiration of suspicious nodes), and PET-CT (for distant disease). Accurate staging guides treatment planning.

Treatment depends on stage. Very early mucosal tumors (T1a, confined to mucosa without lymphovascular invasion) may be curatively treated with endoscopic resection (EMR or endoscopic submucosal dissection). Localized, resectable disease (T1b-T3, N0-1) is typically treated with neoadjuvant chemoradiation (CROSS regimen) followed by surgical esophagectomy. Locally advanced disease may receive definitive chemoradiation without surgery if the patient is not a surgical candidate. Metastatic disease is treated with palliative systemic therapy; esophageal stenting can relieve dysphagia and maintain nutrition. Despite advances, prognosis remains poor, with overall 5-year survival around 20%.

<image>Panel A: Comparison of the two histologic types with adenocarcinoma arising in the lower esophagus from Barrett's origin with risk factors of GERD, obesity, white race, and male sex with incidence rising in the West, versus squamous cell carcinoma in the upper and middle esophagus from squamous origin with risk factors of smoking, alcohol, achalasia, and caustic injury predominant in Asia and Africa. Panel B: Clinical presentation showing progressive dysphagia from solids to liquids, weight loss, odynophagia, and late presentation when more than 50% of the lumen is obstructed. Panel C: Staging workup including upper endoscopy with biopsy, CT for metastases, endoscopic ultrasound for tumor depth and lymph nodes, and PET-CT for distant disease. Panel D: Treatment by stage showing endoscopic resection for T1a tumors, neoadjuvant chemoradiation followed by esophagectomy for localized disease, palliative chemotherapy with stenting for metastatic disease, and overall 5-year survival of approximately 20%.</image>

Approach to Dysphagia

Dysphagia—difficulty swallowing—is a common presenting symptom that requires systematic evaluation to identify its cause and guide treatment.

The first step is distinguishing oropharyngeal from esophageal dysphagia. Oropharyngeal dysphagia reflects difficulty initiating the swallow and transferring the bolus from the pharynx to the esophagus. Patients report that food "won't go down" immediately upon attempting to swallow, often with coughing, choking, or nasal regurgitation. Aspiration risk is significant. Causes include neurologic disorders (stroke, Parkinson's disease, amyotrophic lateral sclerosis, myasthenia gravis), muscular diseases (polymyositis, dermatomyositis), and structural lesions (Zenker's diverticulum, tumors, cervical osteophytes). Evaluation typically involves a video fluoroscopic swallow study (modified barium swallow) to assess swallowing mechanics.

Esophageal dysphagia reflects difficulty with bolus passage through the esophageal body or into the stomach. Patients localize the sensation of food "sticking" to the chest, often pointing to the substernal area or suprasternal notch (though localization may not correlate precisely with the site of pathology). Causes are divided into mechanical (structural) and motility disorders.

The pattern of dysphagia provides important diagnostic clues. Dysphagia to solids only (with liquids passing normally) suggests mechanical obstruction—stricture, ring, web, or tumor. Dysphagia to both solids and liquids from the outset suggests a motility disorder—achalasia, diffuse esophageal spasm. Intermittent dysphagia with meat or bread impaction that then passes suggests a ring (such as Schatzki ring) or eosinophilic esophagitis. Progressive dysphagia starting with solids and advancing to include liquids raises concern for malignancy or progressive stricture.

For esophageal dysphagia, upper endoscopy is the first-line investigation. It directly visualizes the mucosa, identifies structural lesions, allows biopsy, and can provide therapeutic intervention (dilation, stricture treatment). If endoscopy is normal, esophageal manometry evaluates for motility disorders. Barium swallow may be useful when a subtle stricture is suspected or before endoscopy in certain scenarios (Zenker's diverticulum is better evaluated initially with fluoroscopy to avoid perforation during blind intubation).

<image>Panel A: Initial classification distinguishing oropharyngeal dysphagia with difficulty initiating the swallow, coughing, and nasal regurgitation evaluated by video fluoroscopy with causes including neurologic disorders, muscular diseases, and Zenker's diverticulum, versus esophageal dysphagia with food sticking in the chest evaluated by upper endoscopy with mechanical or motility causes. Panel B: Key differentiating patterns for esophageal dysphagia showing solids only suggesting mechanical obstruction such as stricture, ring, or cancer, solids and liquids from onset suggesting motility disorder such as achalasia or diffuse esophageal spasm, intermittent dysphagia suggesting ring or eosinophilic esophagitis, and progressive solids to liquids raising concern for malignancy. Panel C: Workup pathway for esophageal dysphagia starting with upper endoscopy with biopsy for diagnosis and treatment of structural lesions, then manometry if endoscopy is normal to evaluate for motility disorders. Panel D: Role of barium swallow for detecting subtle strictures or as initial evaluation when Zenker's diverticulum is suspected to avoid perforation during blind endoscopic intubation, with each pathway leading to specific diagnoses.</image>

Summary

• GERD: LES dysfunction; heartburn and regurgitation; PPIs are mainstay
• Barrett's: Intestinal metaplasia; surveillance based on dysplasia; ablation for HGD
• Achalasia: LES non-relaxation + absent peristalsis; bird's beak; treat with dilation/myotomy/POEM
• EoE: ≥15 eos/HPF; rings and furrows; topical steroids
• Strictures: Peptic, caustic, EoE; treat with dilation
• Esophageal cancer: Adeno (Barrett's) vs SCC (smoking/alcohol); poor prognosis
• Dysphagia: Solids only = mechanical; solids + liquids = motility; EGD first for esophageal

Key Terms

This content is subject to the MIT License. © 2024–2026 Hibbert School of Medicine.

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