What is the approach to diagnosing Gastroesophageal Reflux Disease (GERD)?

Diagnosing Gastroesophageal Reflux Disease (GERD)

The diagnosis of GERD should be based on a comprehensive clinical evaluation incorporating symptom assessment, response to proton pump inhibitor (PPI) therapy, and when necessary, objective testing with endoscopy and reflux monitoring. 1

Initial Diagnostic Approach

Symptom-Based Diagnosis

• Typical symptoms warranting consideration of GERD diagnosis:

  • Heartburn (retrosternal burning sensation)
  • Regurgitation (backflow of gastric contents into throat/mouth)
  • Non-cardiac chest pain

• Alarm symptoms requiring immediate endoscopy:

  • Dysphagia
  • Weight loss
  • GI bleeding
  • Persistent vomiting
  • Family history of upper GI malignancy 1

PPI Trial

• For patients with typical GERD symptoms without alarm features:

  • Initiate 4-8 week trial of single-dose PPI (e.g., lansoprazole 15-30mg daily) 1, 2
  • PPI should be taken 30-60 minutes before a meal for optimal effect
  • Concurrent lifestyle modifications should be implemented

• Response assessment after 4-8 weeks:

  • Good response: Taper to lowest effective dose
  • Inadequate response: Increase to twice daily dosing or switch to more potent PPI 3
  • Treatment failure: Consider objective testing 3

Objective Testing

When to Perform Diagnostic Testing

• Patients with persistent symptoms despite optimized PPI therapy
• Presence of alarm symptoms
• Atypical or extraesophageal symptoms without typical GERD symptoms
• Before considering long-term PPI therapy (>12 months)
• Prior to anti-reflux surgery consideration 3, 1

Diagnostic Tests

1. Upper Endoscopy (EGD)

   • First-line objective test for patients with:
     • PPI non-response
     • Alarm symptoms
     • Isolated extraesophageal symptoms
     • Screening criteria for Barrett's esophagus 3
   • Findings supporting GERD diagnosis:
     • Erosive esophagitis (Los Angeles classification)
     • Barrett's esophagus
     • Peptic strictures
   • Consider biopsies to rule out eosinophilic esophagitis or other conditions 3

2. Esophageal Manometry

   • Indicated for patients with:
     • Normal endoscopy and persistent symptoms
     • Pre-operative evaluation before anti-reflux surgery
     • Suspected esophageal motility disorders
   • Helps locate lower esophageal sphincter for pH probe placement
   • Evaluates peristaltic function 3

3. Ambulatory Reflux Monitoring

   • Indicated when:

     • Diagnosis remains uncertain after endoscopy
     • Symptoms persist despite PPI therapy
     • Considering anti-reflux surgery 3, 4

   • Options include:

     • Wireless pH monitoring (48-96 hours): Superior sensitivity, better tolerated by patients 3, 4
     • Catheter-based pH monitoring (24 hours): Standard approach
     • Combined impedance-pH monitoring: Detects both acid and non-acid reflux 4

   • Testing should typically be performed off PPI therapy (7 days washout) to establish baseline acid exposure 3

Diagnostic Pitfalls and Considerations

• PPI trial limitations:

  • Sensitivity 71-78% and specificity 41-54% for typical GERD symptoms
  • Even lower diagnostic accuracy for extraesophageal symptoms
  • Symptom improvement may occur due to placebo effect or non-acid suppression mechanisms 3

• No single gold standard test exists for GERD diagnosis:

  • Diagnosis often requires integrating multiple data points
  • Consider the global clinical impression from symptoms, treatment response, and test results 3

• Functional disorders may mimic GERD:

  • Functional heartburn
  • Esophageal hypersensitivity
  • Rumination syndrome 3

Special Considerations for Extraesophageal GERD

• Symptoms may include chronic cough, laryngitis, asthma, dental erosions
• Lower diagnostic accuracy of empiric PPI trial
• Consider early reflux testing instead of empiric PPI therapy when typical GERD symptoms are absent
• Multidisciplinary evaluation may be necessary 3

Diagnostic Algorithm

1. Patient with typical GERD symptoms, no alarm features:

   • 4-8 week PPI trial + lifestyle modifications
   • If responsive: Maintain lowest effective dose
   • If non-responsive: Proceed to endoscopy

2. Patient with alarm symptoms or atypical presentation:

   • Immediate endoscopy
   • If normal: Proceed to manometry and reflux monitoring

3. Patient with persistent symptoms despite PPI therapy:

   • Endoscopy to rule out complications/alternative diagnoses
   • If normal: Reflux monitoring (preferably wireless pH monitoring off PPI)
   • Use results to guide therapy decisions and confirm diagnosis

By following this structured approach to GERD diagnosis, clinicians can accurately identify patients with true GERD, minimize unnecessary long-term PPI use, and appropriately select candidates for advanced therapies when needed.