Q. How are asymptomatic patients identified?

A. This is inferred from the fact that people with no symptoms sometimes present with endoscopically advanced disease or with known complications of the disease. Moreover, patients in several studies have been found to have  endoscopically proven GERD or Barrett’s esophagus with no symptoms. The concept of the GERD iceberg has evolved to illustrate this situation. In this model, patients with frequent symptoms, including those with complications, are the tip of the iceberg. The bulk of the iceberg, hidden from observation, comprises those with infrequent symptoms or no symptoms, including asymptomatic Barrett’s esophagus. Our challenge is to increase awareness of just how much of the iceberg lies below the water line.

Q. What are the atypical symptoms of GERD?

A. Atypical symptoms include chronic cough (especially at night or with recumbency), asthma, atypical chest pain that may mimic angina, chronic laryngitis, and, less commonly, hiccups and dental disease (the latter due to chronic exposure of the teeth to refluxed acid). Cough and asthma are induced by spillover of refluxed acid into the tracheobronchial tree; the anatomic relationship of the esophagus and the trachea accounts for the association of the symptoms with recumbency. Eighty percent of patients with asthma and 20% of those with chronic cough have significant acid reflux on intraesophageal pH monitoring, although this association does not prove causality. Laryngitis is similarly due to acid exposure of the vocal cords; severe laryngeal disease may result. The mechanism of chest pain is less well-understood but probably involves both direct stimulation of pain receptors in the esophageal wall by refluxed acid and reflex esophageal spasm. The occurrence of symptoms at night or when reclining is often helpful diagnostically.

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Patients may also have complications of reflux even without a prior history of reflux symptoms. Dysphagia may be slowly progressive—as is usually seen with peptic strictures—or intermittent, often due to the presence of Schatzki’s ring, a thin membranous ring at the squamocolumnar junction and a concomitant of reflux. Other complications include esophageal ulcer, usually manifested as severe chest pain and especially the onset of odynophagia (pain on swallowing), and development of Barrett’s esophagus.

Q. What are the best ways to diagnose GERD?

A. When a patient presents with symptoms consistent with GERD, the treatment can also be used to confirm the diagnosis. A potent acid blocker, such as omeprazole or lansoprazole, is recommended for seven to 10 days. Improvement of symptoms on this therapy is good evidence for the presence of acid reflux. Once the diagnosis is suspected, an upper GI series may determine the presence of complications of GERD and may detect esophagitis by finding radiographic evidence of mucosal erosions, ulcer, or thickening of the folds. However, normal results on a barium swallow do not rule out the diagnosis. Often, a hiatal hernia may be seen, but this does not necessarily establish the diagnosis of GERD. A hiatal hernia may predispose to reflux by impairing the sphincter function of the diaphragm and acting as a reservoir for refluxed acid, and/or prolonging esophageal clearance time. Reflux can occur without a hernia, however, and a hernia can occur without reflux.

Upper GI endoscopy is a far more sensitive diagnostic tool than x-rays. Visual inspection of the mucosa allows for identification of mucosal changes consistent with GERD, grading the severity of the reflux, and most importantly, performing biopsies of any areas suspicious for Barrett’s epithelium. In addition, coexistent lesions of the stomach, including those indicative of Helicobacter pylori infection, can be documented and appropriate therapy instituted.

Sometimes even after contrast radiography or endoscopy, the diagnosis remains unclear. In the presence of atypical symptoms and especially when antireflux surgery is being considered, intraesophageal pH monitoring is indicated. This is done by placing a pH probe in the esophagus and maintaining it there for 24 hours. During that time, the patient is ambulatory and carries on his or her usual activities of daily living. A symptom diary is kept, in which the patient notes the date and time of each entry. The diary is then compared with the pH tracing. The presence of prolonged periods of pH <4, especially when correlated with symptoms reported in the diary, is the gold standard for diagnosis.

Q. Must patients with classic symptoms have a diagnostic evaluation?

A. All patients with chronic symptoms probably should undergo some evaluation, to prove, disprove, or characterize the extent of disease. In one study of 97 patients with symptoms who had undergone endoscopy, 45% had reflux esophagitis, 42% had no esophagitis, and 12% had Barrett’s esophagus, supporting the fact that clinical symptoms can over- or underestimate disease.