What is the diagnostic approach for Gastroesophageal Reflux Disease (GERD)?

Diagnostic Approach for Gastroesophageal Reflux Disease (GERD)

The diagnosis of GERD should begin with evaluation of typical symptoms (heartburn and regurgitation), followed by an empiric PPI trial in patients with these symptoms, while those with atypical or extraesophageal symptoms should undergo early objective testing rather than empiric therapy. 1

Initial Symptom Assessment

• Typical GERD symptoms include heartburn (burning discomfort in retrosternum) and regurgitation, which have the highest specificity for diagnosing GERD 1, 2
• Atypical symptoms may include dysphagia, chest pain, chronic cough, laryngitis, asthma, dental erosions, and other extraesophageal manifestations 1, 3
• Alarm symptoms requiring immediate endoscopic evaluation include:
  • Troublesome dysphagia
  • Weight loss
  • Gastrointestinal bleeding
  • Epigastric mass on examination 1

Diagnostic Algorithm

For Patients with Typical GERD Symptoms (Heartburn/Regurgitation):

1. Initial approach: Empiric 4-8 week trial of once-daily PPI therapy 1

   • If inadequate response, increase to twice daily or switch to more effective agent 1
   • If adequate response, taper to lowest effective dose 1

2. If symptoms persist despite PPI therapy:

   • Proceed to endoscopy to evaluate for esophagitis, Barrett's esophagus, or alternative diagnoses 1
   • If endoscopy is normal, consider esophageal manometry followed by ambulatory reflux monitoring (pH or impedance-pH) 1

For Patients with Atypical or Extraesophageal Symptoms:

1. Initial approach: Consider early objective testing rather than empiric PPI trial 1

   • Especially important if no concurrent typical GERD symptoms 1

2. Diagnostic sequence:

   • Evaluate for non-GI disorders (ENT, pulmonary, allergy) 1
   • Proceed to endoscopy 1
   • If endoscopy is negative, perform ambulatory reflux monitoring off PPI therapy 1

Diagnostic Tests

Endoscopy

• Recommended for patients with alarm symptoms or who fail to respond to empiric PPI therapy 1
• Complete endoscopic evaluation should include:
  • Assessment for erosive esophagitis (graded by Los Angeles classification)
  • Evaluation of diaphragmatic hiatus and hiatal hernia
  • Inspection for Barrett's esophagus with biopsy when present 1
• Normal endoscopy does not rule out GERD (non-erosive reflux disease is common) 4

Ambulatory Reflux Monitoring

• Options include:
  • Catheter-based pH monitoring
  • Wireless pH capsule (preferred for 48-96 hour monitoring)
  • Combined impedance-pH monitoring (detects both acid and non-acid reflux) 1
• Should be performed off PPI therapy (7-day washout) unless testing for refractory symptoms in patients with previously confirmed GERD 1
• Wireless pH monitoring has superior sensitivity due to extended recording period 1

Esophageal Manometry

• Used to:
  • Localize the lower esophageal sphincter for subsequent pH monitoring
  • Evaluate peristaltic function before anti-reflux surgery
  • Diagnose alternative motility disorders that may mimic GERD (achalasia, distal esophageal spasm) 1
• High-resolution manometry has superior sensitivity for detecting atypical cases of motility disorders 1

Special Considerations

Extraesophageal Reflux Disease (EER)

• No single diagnostic tool can conclusively identify GERD as the cause of extraesophageal symptoms 1
• Diagnosis requires global clinical impression from symptoms, treatment response, endoscopy, and reflux testing 1
• Laryngoscopy findings alone lack specificity for diagnosing reflux-related laryngeal changes 1

Refractory GERD

• For patients with proven GERD who don't respond to high-dose acid suppression, consider pH-impedance monitoring on PPI therapy to evaluate ongoing acid or non-acid reflux 1
• This helps determine if persistent symptoms are related to reflux or other causes 1

Common Pitfalls to Avoid

• Relying solely on symptom response to PPI as confirmation of GERD diagnosis, as improvement may occur through mechanisms other than acid suppression 1, 5
• Continuing long-term PPI therapy without objective confirmation of GERD 1
• Assuming all extraesophageal symptoms are due to GERD without proper testing 1
• Failing to consider alternative diagnoses that may mimic GERD (eosinophilic esophagitis, achalasia, functional disorders) 1, 6

Pediatric Considerations

• In infants, common GERD symptoms include regurgitation, irritability, feeding refusal, poor weight gain, and respiratory symptoms 7
• Warning signs requiring further investigation include bilious vomiting, GI bleeding, forceful vomiting, and neurological symptoms 7
• Validated symptom questionnaires can help document and monitor parent-reported symptoms 7