Diseases of the Esophagus¶
Chapter 334 | Part 10: Gastrointestinal System
KEY CLINICAL POINTS¶
- Heartburn and regurgitation are hallmark symptoms of GERD, often managed with PPIs and lifestyle modifications.
- Achalasia is a rare motility disorder characterized by impaired LES relaxation and absent peristalsis, treated with pneumatic dilation or Heller myotomy.
- Esophageal cancer, particularly adenocarcinoma, is strongly linked to Barrett’s esophagus and GERD, with poor prognosis due to early lymph node metastasis.
- Infectious esophagitis (Candida, herpesvirus, CMV) is common in immunocompromised patients and requires antifungal/antiviral therapy.
- Endoscopic evaluation (e.g., manometry, biopsy) is critical for diagnosing motility disorders, Barrett’s esophagus, and malignancies.
1. DEFINITION & OVERVIEW¶
The esophagus is a muscular tube transporting food to the stomach. Diseases include motility disorders (achalasia, DES), reflux-related conditions (GERD), structural abnormalities (hiatal hernias, rings), and malignancies (adenocarcinoma, squamous cell carcinoma). Key symptoms: heartburn, dysphagia, odynophagia, and regurgitation.
Hiatal Hernia Types¶
| Type | Description | Clinical Features |
|---|---|---|
| Type I (Sliding) | Gastroesophageal junction and gastric cardia herniate into the mediastinum | Most common; associated with GERD |
| Type II (Paraesophageal) | Stomach herniates into the mediastinum without LES displacement | Risk of gastric volvulus; requires surgical repair |
| Type III (Combined) | Sliding and paraesophageal hernia | Complex anatomy; higher complication risk |
| Type IV | Other viscera (e.g., colon) herniate into mediastinum | Rare; severe complications (e.g., perforation) |
1.1 Esophageal Function¶
The esophagus transports food via peristalsis, with the LES regulating gastric reflux. Dysfunction leads to dysphagia, reflux, or pain. Motility disorders (e.g., achalasia) and inflammation (e.g., GERD) are central to pathophysiology.
1.2 Common Symptoms¶
Heartburn (pyrosis), regurgitation, chest pain, dysphagia, odynophagia, and globus sensation. Heartburn is often misdiagnosed as cardiac pain but is strongly associated with GERD.
2. EPIDEMIOLOGY¶
Esophageal cancer incidence: ~21,560 new cases/year in the U.S. (79% men), 16,120 deaths/year. GERD affects 10–15% of adults. Risk factors: obesity, smoking, alcohol, H. pylori, and Barrett’s esophagus.
2.1 Demographics¶
Adenocarcinoma (linked to GERD/Barrett’s) peaks in white males >60 years. Squamous cell carcinoma (linked to smoking/alcohol) is more common in black males <50 years.
2.2 Risk Factors¶
Obesity, smoking, alcohol, caustic injury, H. pylori, and chronic GERD. Hiatal hernias increase GERD risk. EoE is more common in atopic individuals (asthma, eczema).
3. ETIOLOGY & PATHOPHYSIOLOGY¶
GERD: LES dysfunction and reflux of gastric contents. Achalasia: ganglion cell loss in myenteric plexus (autoimmune/HHV-1). Esophageal cancer: chronic inflammation, Barrett’s metaplasia, and oncogenic mutations. Infections (Candida, HSV, CMV) in immunocompromised patients.
Achalasia Subtypes¶
| Subtype | Manometric Features | Clinical Presentation |
|---|---|---|
| Classic Achalasia | Minimal esophageal body pressurization, absent peristalsis | Progressive dysphagia, weight loss |
| Esophageal Compression | Substantial fluid pressurization, spastic contractions | Chest pain, food impaction |
| Spastic Achalasia | Hypercontractile esophagus, tertiary contractions | Chest pain, dysphagia |
3.1 GERD Pathophysiology¶
Impaired LES relaxation, increased intra-abdominal pressure, and delayed gastric emptying. Acid and bile reflux cause mucosal injury, leading to esophagitis, strictures, or Barrett’s.
3.2 Achalasia¶
Autoimmune-mediated ganglion cell loss in the myenteric plexus. Results in absent LES relaxation and peristalsis. Long-standing disease leads to esophageal dilation and squamous cell carcinoma risk.
4. CLINICAL FEATURES¶
Symptoms vary by disease: GERD (heartburn, regurgitation), achalasia (dysphagia, chest pain), esophageal cancer (weight loss, odynophagia), EoE (chest pain, food impaction). Physical findings: stricture, Barrett’s mucosa, or esophageal masses.
4.1 GERD Symptoms¶
Heartburn (burning retrosternal pain), regurgitation, dysphagia, and chest pain. May mimic cardiac angina. Often relieved by antacids.
4.2 Esophageal Cancer¶
Progressive dysphagia, weight loss, odynophagia, and hematemesis. Advanced stages may present with stricture or perforation.
5. DIFFERENTIAL DIAGNOSIS¶
GERD vs. cardiac ischemia, peptic ulcer disease, EoE, esophageal cancer, or motility disorders (DES, achalasia). Infectious esophagitis (Candida, HSV, CMV) must be differentiated by endoscopic findings and clinical context.
5.1 Cardiac vs. Esophageal Chest Pain¶
Esophageal pain is non-exertional, relieved by antacids, and associated with regurgitation. Cardiac pain is exertional, unrelieved by antacids, and may radiate to the jaw.
5.2 EoE vs. GERD¶
EoE presents with food impaction, dysphagia, and eosinophilic inflammation on biopsy. GERD is more common and associated with heartburn and regurgitation.
6. INVESTIGATIONS & DIAGNOSIS¶
Endoscopy (biopsy for Barrett’s/EoE), manometry (achalasia/DES), barium swallow (hiatal hernia, strictures), and imaging (CT for cancer staging). pH monitoring for GERD.
GERD Diagnostic Criteria¶
| Test | Indication | Result Interpretation |
|---|---|---|
| Endoscopy | Suspected Barrett’s or cancer | Esophagitis, strictures, or neoplasia |
| pH Monitoring | Atypical symptoms or poor response to PPIs | Reflux >6% time indicates GERD |
| Manometry | Dysphagia with no structural cause | Impaired LES relaxation or peristalsis |
6.1 Diagnostic Tests¶
Endoscopy: gold standard for visualizing lesions, biopsies, and ruling out cancer. Manometry: detects LES dysfunction (achalasia, DES). Barium swallow: identifies strictures, hiatal hernias, or motility disorders.
6.2 pH Monitoring¶
Ambulatory 24–96-hour pH monitoring detects acid reflux. Impedance monitoring identifies non-acid reflux. Thresholds: >6% reflux time indicates GERD.
7. MANAGEMENT & TREATMENT¶
Lifestyle modifications (diet, weight loss), PPIs for GERD, endoscopic dilation/POEM for achalasia, surgery (Heller myotomy) for severe cases. EoE: elimination diets, topical steroids, biologics (dupilumab).
Achalasia Treatment Options¶
| Therapy | Success Rate | Complications |
|---|---|---|
| Pneumatic Dilation | 60–90% | Perforation (0.5–5%) |
| Heller Myotomy | 62–90% | Reflux, dysphagia |
| Therapy | Success Rate | Complications |
|---|---|---|
| POEM | 80–90% | GERD, postoperative dysphagia |
7.1 GERD Management¶
PPIs (omeprazole, esomeprazole) as first-line. Lifestyle changes: avoid NSAIDs, alcohol, and fatty foods. Endoscopic therapy for strictures or Barrett’s.
7.2 Achalasia Treatment¶
Pneumatic dilation (3–4 cm balloon), Heller myotomy (laparoscopic), or POEM. Long-term PPIs to prevent reflux complications.
8. PROGNOSIS & COMPLICATIONS¶
Esophageal cancer: 5-year survival <10% due to late presentation. Complications of GERD: Barrett’s (17x higher cancer risk), strictures, and aspiration pneumonia. EoE: stricture formation and food impaction.
8.1 Cancer Risk¶
Barrett’s esophagus: 0.1–0.3% annual cancer risk. Adenocarcinoma incidence increased 6x in 20 years. Early detection via endoscopy and surveillance.
8.2 Complications¶
GERD: Strictures (treated with dilation), aspiration pneumonia, and esophagitis. Achalasia: Esophageal dilation, perforation, or gastric volvulus.
9. SPECIAL CONSIDERATIONS¶
Pregnancy: GERD worsens due to hormonal changes; avoid NSAIDs. Elderly: Higher risk of aspiration and delayed diagnosis. Pediatrics: EoE is common in atopic children; avoid allergens. Immunocompromised: Increased risk of infectious esophagitis (Candida, HSV, CMV).
9.1 Pregnancy¶
GERD management: PPIs (safe in pregnancy), dietary changes, and elevation of the head of the bed. Avoid NSAIDs and antacids with magnesium.
9.2 Pediatrics¶
EoE: Common in children with atopy (asthma, eczema). Elimination diets (milk, egg, soy) and topical steroids (fluticasone) are first-line. Avoid allergens and monitor for food impaction.
10. KEY POINTS & CLINICAL PEARLS¶
- Heartburn and regurgitation are key symptoms of GERD; treat with PPIs. 2. Achalasia is diagnosed by manometry and managed with dilation/myotomy. 3. Barrett’s esophagus increases adenocarcinoma risk; endoscopic surveillance is critical. 4. EoE is diagnosed by eosinophilic inflammation on biopsy; elimination diets and steroids are effective. 5. Esophageal cancer is often asymptomatic until advanced stages; early endoscopy is essential.