• There is no gold standard for the diagnosis of GERD
    • An objective diagnostic tool w/ acceptable specificity & sensitivity is still lacking
    • Endoscopy is positive in only about 40% of cases
Clinical Diagnosis

  • Since GERD occurs w/ few, if any, abnormal physical findings, a well-taken history is essential in establishing the diagnosis of GERD
  • Manifestations of GERD present in a number of ways:
A. Based on Symptomatology - this classification allows symptoms to define the disease
  • Manifestations of GERD are divided into esophageal & extraesophageal syndromes:
    1) Esophageal Syndromes are characterized by the constellation of symptoms that may or may not be defined by further diagnostic tests
  • Esophageal symptomatic syndromes refer to uninvestigated patients w/ esophageal symptoms but w/o evidence of esophageal injury
    • Include the Typical reflux syndrome defined by the presence of troublesome heartburn &/or regurgitation which are characteristic symptoms of GERD
    • Typical reflux syndrome can often be diagnosed w/o diagnostic testing; however, alarm symptoms should be excluded first
    • Alarm symptoms are features which strongly raise suspicion of a complication or a malignancy
      • Include GI bleeding, anemia, abdominal mass, unexplained weight loss, vomiting, progressive dysphagia
      • Have low predictive value & suggest advanced, rather than early, malignancy
      • In the Asia-Pacific region, patients w/ alarm symptoms are likely to have gastric than esophageal cancer due to the higher prevalence of peptic ulcer disease & gastric CA in this region
      • Their role as a diagnostic tool has limited evidence but individual alarm features w/ the best performance for identifying esophageal or gastric malignancies are weight loss, dysphagia, & epigastric mass on examination
  • Esophageal syndromes w/ esophageal injury include patients w/ demonstrable esophageal injury (eg reflux esophagitis, stricture, Barrett’s esophagus, adenocarcinoma)
    2) Extraesophageal Syndromes with Established Associations are defined by conditions w/ an established association w/ GERD based on population-based studies
  • Eg Reflux cough syndrome, reflux asthma syndrome, reflux laryngitis syndrome, reflux dental erosion syndrome
  • It is rare for extraesophageal syndromes to occur alone w/o a concomitant manifestation of typical esophageal syndrome
  • These syndromes are usually multifactorial, w/ GERD as only one of the many other potential aggravating factors
      3) Extraesophageal Syndromes with Proposed Associations are defined by conditions whose causal associations w/ GERD are unclear or lacking in evidence
    • Eg Sinusitis, pharyngitis, recurrent otitis media, pulmonary fibrosis
    B. Based on Endoscopic Findings
    • Erosive Reflux Disease (ERD)
      • Defined by presence of esophageal mucosal damage
      • Eg Erosive esophagitis, Barrett’s esophagus
    • Non-erosive Reflux Disease (NERD)
      • Defined by absence of esophageal mucosal damage (endoscopy-negative reflux disease) w/o recent acid-suppressive therapy
      • More common in Asia
    Risk Factors Linked to GERD
    • Age & male sex - associated w/ a higher incidence of esophagitis
    • Obesity - 2.5x more likely to have GERD than those w/ normal BMI
    • Alcohol
    • Smoking
    • Hiatus hernia - presence & size of a hiatal hernia are associated w/ a more incompetent LES, defective peristalsis, increased acid exposure & more severe mucosal damage
    Precipitating Factors Linked to GERD
    • Coffee, chocolate, fatty foods
    • Acidic foods (eg spicy foods, citrus, carbonated drinks)
    Medication History
    • A number of common drugs & hormonal products have been associated w/ GERD
      • Eg anticholinergics, benzodiazepines, calcium channel blockers, Dopamine, nicotine, nitrates, Theophylline, Estrogens, Progesterone, Glucagon, some prostaglandins
    PPI (Proton Pump Inhibitor) Diagnostic Test
    • In patients w/ classic symptoms & who do not have symptoms suggestive of complications, an empiric trial of anti-secretory therapy may be considered since diagnostic modalities cannot reliably exclude GERD even if they are negative
      • A favorable symptomatic response to a short course of PPI (once daily x 2 wk) is considered to support a diagnosis of GERD when symptoms of non-cardiac chest pain are present
    Lab Tests
    • Diagnosis of GERD may be confirmed if at least one of the following conditions is met:
      • Presence of a peptic stricture in the absence of malignancy
      • Presence of mucosal break on endoscopy
      • Barrett’s esophagus on biopsy
      • Positive pH-metry
    • Endoscopy
      • Has a high specificity (95%) but low sensitivity (<50%)
        • 60% of patients w/ GERD actually have NERD
      • The first diagnostic test to consider in the presence of alarm symptoms or risk factors for Barrett’s esophagus, in evaluating symptom response to twice-daily PPI therapy, & prior to antireflux surgery
      • Since PPI therapy is usually started prior to any test, the sensitivity of endoscopy as a diagnostic test for GERD is poor
        • The principal role of endoscopy in suspected GERD is the evaluation of treatment failures & risk management
      • Routine endoscopy in the general population is not recommended
        • High-risk patients for esophageal adenocarcinoma (eg males, age ≥50, chronic GERD, high BMI, central obesity, hiatal hernia) may, however, warrant endoscopy
      • Endoscopy w/ biopsy - to target any areas of suspected metaplasia, dysplasia, or malignancy
        • Used in patients w/ an esophageal GERD syndrome w/ troublesome dysphagia
        • Biopsy is not indicated when endoscopy is normal
    • Manometry
      • Recommended in preoperative evaluation of patients but has no role in the diagnosis of GERD
      • To evaluate patients w/ suspected esophageal GERD syndrome who have not responded to an empiric trial of twice-daily PPI therapy & have normal findings on endoscopy
      • Will serve to localize the LES for potential subsequent pH monitoring, to evaluate peristaltic function prior to surgery, & to diagnose subtle presentations of major motor disorders
      • High-resolution manometry is recommended over manual manometry due to the former’s superior sensitivity in identifying atypical cases of achalasia & distal esophageal spasm
    • Ambulatory Impedance-pH, Catheter pH, or Wireless pH Monitoring
      • To assess patients w/ a suspected esophageal GERD syndrome who have not responded to an empiric trial of PPI therapy, have normal endoscopic findings, & w/o major abnormality on manometry
      • Indicated prior to consideration of endoscopic or surgical therapy in patients w/ non-erosive disease
      • The only test that can assess frequency of reflux, presence of abnormal acid exposure of the esophagus, & the reflux symptom association
      • PPI therapy should be discontinued for 7 days prior to its performance
      • Wireless pH monitoring has superior sensitivity in detecting pathological esophageal acid exposure since it has longer period of recording (48 hr) & has shown superior recording accuracy compared w/ other catheter studies
    • Other tests for GERD
      • Barium esophagogram may help in the evaluation of major motor disorders (achalasia, diffuse esophageal spasm) after a normal endoscopy or in preoperative phase of anti-reflux surgery
      • Consider overlapping of symptoms of GERD, functional dyspepsia & IBS & coexistence of serious GI disorders, eg gastric cancer or peptic ulcer, in planning for further diagnostic tests