Special Surgery 5. Benign Diseases of the Esophagus, Diagnostics and Treatment

I. Achalasia

Definition

• Primary motility disorder of the esophagus
• Main problem: impaired relaxation of lower esophageal sphincter (LES) + absent/abnormal esophageal peristalsis
• Functional obstruction at esophagogastric junction (EGJ)

Pathogenesis

• Degeneration/atrophy of inhibitory neurons in Auerbach myenteric plexus
• Loss of NO/VIP-mediated inhibition → LES cannot relax properly
• LES obstruction + aperistalsis → food retention → proximal esophageal dilatation

• Auerbach plexus damage → increased LES tone/incomplete relaxation → dysfunctional peristalsis → dilated esophagus

Etiology

• Primary/idiopathic: most common
• Secondary achalasia / pseudoachalasia:

• Chagas disease: Trypanosoma cruzi
• Gastric cardia/EGJ carcinoma
• Esophageal carcinoma or extrinsic malignant infiltration

• Red flags for pseudoachalasia: older age, short history, marked weight loss, difficult endoscope passage through EGJ

Clinical Features

• Progressive dysphagia to solids and liquids
• Food stuck in esophagus
• Regurgitation of undigested food
• Nocturnal cough, aspiration, aspiration pneumonia
• Vomiting without true gastric nausea
• Weight loss
• Retrosternal/chest pain
• Long-standing achalasia → increased squamous cell carcinoma risk

Diagnosis

1. Upper endoscopy
2. Barium swallow / timed barium esophagram
3. High-resolution esophageal manometry

1. Endoscopy

• Exclude mechanical obstruction and malignancy/pseudoachalasia
• Findings: retained food/saliva, dilated esophagus, tight EGJ
• Endoscope may pass with gentle pressure in true achalasia

2. Barium Swallow

• Bird-beak narrowing at EGJ
• Dilated esophagus proximal to LES
• Delayed emptying/retained barium
• Sigmoid megaesophagus in advanced disease

3. Esophageal Manometry

• Gold standard diagnostic test
• Shows incomplete LES relaxation + absent peristalsis
• Classifies achalasia:

• Type I: classic achalasia, minimal pressurization
• Type II: panesophageal pressurization; best response to treatment
• Type III: spastic achalasia; POEM often preferred because myotomy can be longer

Treatment

Definitive Treatment

• Goal: reduce LES obstruction; peristalsis is usually not restored
• Pneumatic dilation:

• Endoscopic balloon disruption of LES muscle
• Effective non-surgical option
• Risk: perforation

• Laparoscopic Heller myotomy:

• Longitudinal incision of LES muscle fibers
• Usually combined with partial fundoplication to reduce postoperative reflux
• Dor anterior or Toupet posterior partial fundoplication

• POEM = peroral endoscopic myotomy:

• Endoscopic submucosal tunnel + myotomy
• Good option for type III/spastic achalasia
• Higher GERD risk than Heller myotomy with fundoplication

Conservative / High-Risk Patient Treatment

• Botulinum toxin injection into LES
• Used in elderly or high surgical-risk patients
• Temporary effect; recurrence common
• Nitrates and calcium channel blockers → decrease LES tone but weak/short effect

II. Esophageal Diverticula

Definition

• Abnormal outpouching from the esophageal wall
• Can retain food → regurgitation, halitosis, aspiration

Classification

1. According to Location

• Upper esophageal diverticulum: Zenker diverticulum
• Middle esophageal diverticulum: near tracheal bifurcation
• Lower esophageal diverticulum: epiphrenic diverticulum above diaphragm

2. According to Histology

• True diverticulum: all layers of esophageal wall protrude
• False diverticulum: mucosa/submucosa protrude through muscular layer

3. According to Pathomechanism

• Pulsion diverticulum:

• Increased intraluminal pressure due to sphincter relaxation failure or motility disorder
• Usually false diverticulum
• Common sites: Zenker and epiphrenic diverticula

• Traction diverticulum:

• Mediastinal inflammation/scarring pulls esophageal wall outward
• Usually true diverticulum
• Common site: mid-esophagus near tracheal bifurcation

Main Types

1. Zenker Diverticulum

• Most common esophageal diverticulum
• Pharyngesophageal / hypopharyngeal diverticulum
• Pulsion false diverticulum through Killian triangle
• Mechanism: cricopharyngeal dysfunction → high pressure during swallowing

2. Mid-Esophageal Diverticulum

• Classically traction diverticulum
• May follow mediastinal inflammation, lymphadenitis, tuberculosis or granulomatous disease
• Can also be associated with motility disorder

3. Epiphrenic Diverticulum

• Distal esophageal diverticulum just above diaphragm
• Usually pulsion type
• Often associated with achalasia or other motility disorder

Clinical Features

• Dysphagia
• Regurgitation of undigested food
• Halitosis
• Chronic cough
• Aspiration and aspiration pneumonia
• Neck gurgling/swelling can occur in Zenker diverticulum
• Chest pain or reflux-like symptoms in epiphrenic diverticulum

Diagnosis

• Barium swallow: best initial test; outlines pouch, neck and retention
• Endoscopy:

• Used cautiously, especially in large Zenker diverticulum
• Risk: entering pouch → perforation
• Useful to exclude malignancy or mucosal disease

• Esophageal manometry: important before epiphrenic diverticulum surgery to define motility disorder
• CT if complications, mediastinal disease or unclear anatomy

Treatment

• Small asymptomatic diverticulum → observation
• Symptomatic diverticulum → treat pouch + underlying motility/sphincter problem

Zenker Diverticulum

• Endoscopic septotomy/stapling or flexible endoscopic diverticulotomy
• Open diverticulectomy or diverticulopexy + cricopharyngeal myotomy
• Myotomy is essential → prevents recurrence

Epiphrenic Diverticulum

• Diverticulectomy + long esophageal myotomy
• Add partial fundoplication to reduce reflux after myotomy
• Treat associated achalasia/motility disorder

Mid-Esophageal Diverticulum

• Treat underlying inflammatory or motility cause
• Surgery only if symptomatic, large or complicated

III. Hiatal Hernia

Definition

• Proximal stomach and/or EGJ passes through esophageal hiatus into mediastinum
• Can cause GERD, obstruction, volvulus or bleeding depending on type

Etiology and Risk Factors

• Advanced age
• Obesity
• Pregnancy
• Ascites
• Chronic cough / COPD
• Smoking
• Connective tissue weakness
• Increased intra-abdominal pressure

Types

1. Type I: Sliding Hiatal Hernia

• Most common type, about 90-95%
• EGJ and gastric cardia slide above diaphragm
• Fundus remains below EGJ
• Strongly associated with GERD

2. Type II: Pure Paraesophageal / Rolling Hernia

• EGJ remains in normal position below diaphragm
• Part of gastric fundus herniates beside esophagus
• Risk: incarceration, obstruction, volvulus, strangulation

3. Type III: Mixed Hernia

• Combination of sliding and paraesophageal hernia
• Both EGJ and stomach herniate into thorax

4. Type IV: Giant Paraesophageal Hernia / Upside-Down Stomach

• Large hernia with stomach and sometimes other organs in chest
• Can include colon, spleen or small bowel

Clinical Features

• Often asymptomatic
• Sliding hernia symptoms = GERD symptoms:

• Heartburn, retrosternal/epigastric pain
• Acid regurgitation
• Worse supine, after meals, at night
• Dysphagia, cough, hoarseness

• Paraesophageal hernia symptoms:

• Postprandial fullness
• Epigastric/substernal pain
• Dysphagia or odynophagia
• Vomiting/retching
• Dyspnea, anemia from Cameron ulcers

• Complications:

• GERD → esophagitis → stricture / Barrett esophagus → adenocarcinoma risk
• Upper GI bleeding, Cameron lesions/ulcers
• Gastric obstruction
• Volvulus, ischemia, perforation

Diagnosis

• Barium swallow: defines anatomy, hernia type, size, volvulus/obstruction
• Upper endoscopy:

• Assess esophagitis, Barrett esophagus, ulcer, stricture, bleeding
• Identify EGJ/Z-line and diaphragmatic pinch
• Sliding hernia: EGJ/Z-line displaced above diaphragmatic hiatus
• Paraesophageal type II: EGJ may remain below diaphragm while fundus herniates

• CT: large/paraesophageal hernia, acute complications, volvulus, mediastinal anatomy
• Esophageal manometry: preoperative planning and to exclude major motility disorder
• pH monitoring if GERD symptoms are unclear or before anti-reflux surgery when objective GERD proof is needed

Treatment

1. Sliding Hernia

• Usually treat as GERD
• Lifestyle: weight reduction, smoking cessation, avoid late meals, elevate head of bed
• Medical: proton pump inhibitor (PPI)
• Surgery only for refractory GERD, complications, large symptomatic hernia or patient preference after objective workup

2. Paraesophageal Hernia: Type II-IV

• Symptomatic paraesophageal hernia → surgical repair if medically fit
• Emergency surgery if volvulus, strangulation, perforation or uncontrolled bleeding
• Asymptomatic/minimally symptomatic patients → individualized decision based on age, risk and patient preference
• Preferred operation usually laparoscopic transabdominal repair:

• Reduction of herniated stomach/organs
• Dissection and excision/reduction of hernia sac
• Esophageal mobilization to obtain intra-abdominal esophageal length
• Closure of hiatal defect / cruroplasty
• Fundoplication often added to prevent reflux
• Gastropexy can be added in selected high-risk or recurrent cases

• Fundoplication types:

• Nissen: 360-degree complete wrap
• Toupet: posterior partial wrap
• Dor: anterior partial wrap

IV. Gastresophageal Reflux Disease (GERD)

Definition

• Gastresophageal reflux = regurgitation of gastric contents into esophagus
• GERD = reflux causing troublesome symptoms and/or esophageal injury/complications

Etiology / Pathomechanism

• Incompetent anti-reflux barrier at EGJ
• Reduced LES tone:

• Alcohol
• Drugs: calcium channel blockers, nitrates, anticholinergics
• Previous surgery

• Increased intra-abdominal/intragastric pressure:

• Obesity
• Pregnancy
• Chronic cough
• Ascites
• Delayed gastric emptying

• Hiatal hernia
• Impaired esophageal clearance
• Acid pocket/hyperacidity can aggravate symptoms

Clinical Features

• Typical symptoms:

• Heartburn / retrosternal burning pain
• Acid regurgitation
• Worse after meals, supine position, bending, at night

• Other symptoms:

• Epigastric pain
• Dyspepsia/indigestion
• Dysphagia
• Non-cardiac chest pain
• Chronic cough, hoarseness, laryngitis
• Asthma-like symptoms

• Alarm symptoms:

• Dysphagia or odynophagia
• Weight loss
• GI bleeding/anemia
• Persistent vomiting
• New symptoms in older patient

Complications

• Reflux esophagitis
• Esophageal ulcer
• Peptic stricture
• Barrett esophagus: intestinal metaplasia of distal esophagus
• Adenocarcinoma risk in Barrett esophagus
• Reflux laryngitis
• Aspiration pneumonia

Diagnosis

• Typical heartburn/regurgitation without alarm signs → clinical diagnosis and empirical PPI trial
• Upper endoscopy indicated if:

• Alarm symptoms
• Refractory symptoms
• Suspected complication: stricture, Barrett, bleeding
• Before anti-reflux surgery in most patients

• Endoscopic findings: erythema, erosions, ulcers, peptic stricture, Barrett mucosa
• 24-hour pH monitoring or pH-impedance monitoring:

• Gold standard for objective reflux proof in unclear/atypical or refractory cases
• Important before surgery if GERD not clearly proven by endoscopy

• Esophageal manometry:

• Not diagnostic for GERD itself
• Preoperative test before fundoplication to exclude achalasia/major motility disorder

• Barium swallow: useful for hiatal hernia, stricture, short esophagus or preoperative anatomy

Treatment

1. Conservative / Lifestyle

• Weight loss if overweight/obese
• Smoking cessation
• Elevate head of bed for nocturnal symptoms
• Avoid meals 2-3 hours before sleeping
• Avoid individual triggers:

• Fatty food
• Spicy food
• Caffeine
• Alcohol
• Carbonated drinks
• Chocolate/peppermint if symptomatic

• Avoid drugs decreasing LES tone if possible: CCB, nitrates, anticholinergics

2. Medical Treatment

• PPI = mainstay therapy
• Take before meal, usually before breakfast
• H2-receptor antagonist can help mild/nocturnal symptoms
• Antacids/alginates for intermittent symptom relief
• Treat complications: stricture dilation, Barrett surveillance/ablation if dysplasia

3. Surgical / Endoscopic Treatment

• Indications:

• Objectively confirmed GERD with persistent symptoms despite optimized PPI
• Medication intolerance or desire to avoid long-term medication
• Large hiatal hernia or paraesophageal component
• Complications: severe esophagitis, peptic stricture, recurrent aspiration in selected cases

• Laparoscopic fundoplication:

• Nissen fundoplication: 360-degree wrap around distal esophagus
• Partial fundoplication (Toupet/Dor) if dysphagia risk or motility disorder
• Hiatal hernia repair/cruroplasty if present

• Preoperative requirements:

• Objective GERD proof
• Endoscopy
• Manometry
• pH monitoring if diagnosis uncertain