What are the causes, symptoms, and treatment options for esophageal structural disorders in patients of different ages, including those with a history of Gastroesophageal Reflux Disease (GERD) or previous esophageal surgeries?

Esophageal Structural Disorders: Causes, Symptoms, and Treatment

Overview and Key Populations

Esophageal structural disorders encompass a spectrum of anatomical abnormalities that impair esophageal function, with distinct presentations across age groups and particularly high-risk profiles in patients with prior esophageal surgery or congenital anomalies. 1

Major Causes by Population

Congenital Structural Disorders (Esophageal Atresia-Tracheoesophageal Fistula)

Patients with repaired EA-TEF face lifelong structural complications requiring systematic surveillance, as they have significantly elevated risks of Barrett esophagus and esophageal malignancy compared to the general population. 1

• Anastomotic strictures occur beyond infancy in adolescents and adults with EA-TEF, requiring investigation with contrast studies, endoscopy, and biopsies when symptomatic 1
• Esophageal dysmotility persists in the majority of adolescent and adult EA-TEF patients, contributing to dysphagia and potentially increasing epithelial metaplasia risk 1
• Barrett esophagus incidence is markedly increased in adults with EA-TEF versus the general population, with unclear but concerning rates of adenocarcinoma and squamous cell carcinoma 1
• Eosinophilic esophagitis occurs with increased frequency in EA-TEF patients and should be actively screened with multiple biopsies during surveillance endoscopy 1

Inflammatory Structural Disorders

Eosinophilic esophagitis (EoE) causes progressive tissue remodeling with rings, strictures, and small-caliber esophagus in 86% of adult patients, often with diagnostic delays averaging 4.6 years. 1

EoE-Related Structural Changes:

• Rings and strictures develop in 57-86% of adults, typically localized to the proximal esophagus and extending longitudinally 1
• Small-caliber esophagus is frequently missed on radiographic studies despite being visible endoscopically 1
• Esophageal narrowing occurs in 6% of children with EoE, with normalization in 21 of 22 patients following dietary treatment 1
• Dilation complications include longitudinal tears in 77% of patients, though perforation is rare 1

Autoimmune and Dermatologic Structural Disorders

Bullous dermatoses, lichen planus, and systemic autoimmune diseases produce distinct structural esophageal involvement requiring specialized diagnostic approaches including direct immunofluorescence. 1

• Lichen planus causes narrowed caliber affecting the majority of the esophagus, with pale, edematous mucosa that sloughs upon endoscopic contact 1
• Pemphigoid and pemphigus produce blistering, erosions, and epithelial sloughing similar to the skin Nikolsky sign 1
• Scleroderma causes esophageal dilation with absent contractility and low-amplitude lower esophageal sphincter on manometry 1
• Sjogren's disease presents with nonspecific edema, crepe paper-appearing tissue, and non-specific stenoses 1

GERD-Related Structural Complications

In patients with prior esophageal surgery (particularly EA-TEF repair), GERD occurs in 31-43% and requires objective confirmation before long-term treatment, as esophagitis is found in up to half of these patients. 1

• Peptic strictures develop from chronic acid exposure, affecting 8-19% of adults with endoscopic findings 2, 3
• Barrett esophagus requires screening in high-risk patients, though erosive esophagitis is present in only 20-50% of symptomatic GERD patients 3
• Hiatal hernia should be identified with barium swallow before surgical GERD treatment 1

Clinical Presentation by Age

Children and Adolescents

• Feeding refusal or intolerance is common in young children unable to articulate dysphagia 1
• GERD-like symptoms (heartburn, regurgitation) occur in 5-82% of children with structural disorders 1
• Emesis and abdominal pain are reported in 8-100% and 5-68% respectively 1
• Dysphagia and food impaction increase with age (16-100% for dysphagia, 10-50% for food impaction) 1
• Failure to thrive occurs in 5-19% of affected children 1

Adults

• Intermittent dysphagia is the predominant symptom (29-100% of cases) 1
• Food impaction occurs in 25-100%, with EoE responsible for 50% of esophageal food impactions in some institutions 1
• GERD-like symptoms persist in 7-100% of adults despite being less common than in children 1
• Chest pain (1-58%) and abdominal pain (3-25%) are variably present 1

Special Consideration: Neurologically Impaired Patients

Children with cerebral palsy represent a distinctly high-risk population for severe, chronic GERD that does not follow the self-limited natural history of typical infant reflux and requires early aggressive intervention. 4

• Unlike typical infant reflux resolving by 12 months in 90-95%, GERD in cerebral palsy patients persists chronically into childhood and adolescence 4
• These patients experience substantially higher prevalence of severe GERD and complications than the general pediatric population 4

Diagnostic Approach

Endoscopic Evaluation

Upper endoscopy with systematic biopsies is essential, as structural abnormalities may be subtle or missed on radiographic studies alone. 1

• Multiple biopsies (minimum 3-4 distal and 3-4 proximal esophagus) should be obtained off PPI for at least 2-4 weeks when evaluating for EoE 1
• Direct immunofluorescence biopsies sent to pathology centers of excellence are required for suspected bullous dermatoses or lichen planus 1
• Narrow-band imaging should be utilized when available for Barrett esophagus surveillance 1

Radiographic Studies

• Barium swallow is necessary before surgical GERD treatment to identify hiatal hernia, strictures, or short esophagus 1
• Contrast studies demonstrate esophageal narrowing but may miss small-caliber esophagus visible endoscopically 1
• Timed barium esophagram with pill is useful for assessing functional impact of structural abnormalities 1

Physiologic Testing

• High-resolution esophageal manometry identifies dysmotility patterns, particularly absent contractility in scleroderma and achalasia-like patterns in Chagas disease 1
• 24-hour pH monitoring remains the gold standard for objectively demonstrating GERD when endoscopy is negative 1
• Multichannel intraluminal impedance-pH monitoring is recommended for infants and children with mainly weak or non-acidic refluxes 1

Treatment Strategies

Medical Management

Acid suppression with proton pump inhibitors is the mainstay for GERD-related structural complications, though EoE symptoms are unresponsive or only partially responsive to acid blockade. 1, 5

• Pantoprazole 40 mg IV is indicated for short-term treatment (7-10 days) in adults with GERD and history of erosive esophagitis who cannot take oral medication 5
• Systemic corticosteroids induce clinicopathologic remission in nearly all EoE patients, while topical fluticasone shows 52% improvement 1
• Dietary treatment (restriction or amino acid-based formula) is highly effective in EoE, with 97.6% showing clinicopathologic response 1

Endoscopic Intervention

Esophageal dilation for strictures in EoE patients results in longitudinal tears in 77% but perforation is rare, making it a relatively safe intervention when indicated. 1

• Dilation should be performed cautiously in EoE due to the crepe paper-like mucosa 1
• Strictures in EA-TEF patients require investigation before dilation to rule out malignancy 1

Surgical Management

For persistent, uncontrollable GERD in EA-TEF patients, fundoplication is indicated after objective confirmation of GERD, with laparoscopic approach preferred over open laparotomy. 1

• Partial wraps may have fewer adverse effects but higher failure rates than complete Nissen fundoplication 1
• Barium swallow is mandatory before surgery to identify anatomical factors 1

Surveillance Protocols for High-Risk Populations

Patients with EA-TEF require lifelong structured surveillance due to elevated malignancy risk, with frequency increasing with age. 1

Gastroenterology Follow-up:

• Every 2 years between ages 18-34 years 1
• Annually from age 35 years onwards 1

Endoscopic Surveillance Schedule:

• Every 5 years between ages 18-28 years 1
• Every 3 years between ages 28-40 years 1
• Every 2 years between ages 40-50 years 1
• Annually from age 50 onwards 1
• Additional endoscopies required for new or worsening symptoms and according to Barrett esophagus recommendations 1

Critical Clinical Pitfalls

Diagnostic delays averaging 4.6 years in EoE occur because highly suggestive features are not recognized, emphasizing the need for high clinical suspicion in patients with dysphagia and food impaction. 1

• Small-caliber esophagus in EoE is frequently missed on radiographic studies despite being visible endoscopically 1
• Symptoms in EoE are unresponsive or only partially responsive to acid blockade, distinguishing it from GERD 1
• GERD in neurologically impaired children does not follow the benign, self-limited course of typical infant reflux 4
• Esophageal metaplasia, Barrett esophagus, and adenocarcinoma have not been reported in EoE patients, indicating a different pathologic process from reflux-related malignancy 1
• Anastomotic strictures in EA-TEF patients occurring beyond infancy may predict epithelial metaplasia, though evidence is limited 1