Typical symptoms in patients with GERD are extremely important in making the diagnosis. It is important to note that heartburn, and more commonly dysphagia (difficulty swallowing), may be due to causes other than reflux disease. It should also be noted that extra-esophageal manifestations of reflux (symptoms attributable to organ systems other than the esophagus) may be due to primary disease in the upper or lower respiratory tract.
Symptoms of reflux disease can, however, be shown to be a consequence of reflux (stomach contents flowing backward into the esophagus) if they respond to a trial of reflux therapy. Thus, the first test that should be performed for such patients is a trial of therapy. Trials also can be considered in patients at low risk for serious complications from reflux disease (younger patients with shorter duration of symptoms who do not have any alarming symptoms such as weight loss, difficulty swallowing, low blood count, or gastrointestinal bleeding).

Patients with alarming symptoms, or those who have long standing symptoms, should be evaluated endoscopically (evaluation with a flexible lighted tube that has a scope on its end). The reason to perform an endoscopy in these patients is not necessarily to prove the diagnosis of reflux disease since many patients have normal studies; it is primarily to confirm the absence of complications of reflux disease. If endoscopic evaluation shows obvious inflammation of the esophagus, the diagnosis is assured; however, in the absence of such complications, reflux may still be present.

The gold standard for the diagnosis of gastroesophageal reflux disease is a 24-hour pH probe study in which a small catheter with an acid sensitive probe is placed in the lower esophagus. During a 24-hour monitoring period, the amount of acid present in the lower esophagus is measured. If the amount of acid is elevated, reflux disease is present. Also, 24-hour pH probe studies are also useful for correlating symptoms with episodes of acid reflux (acid from the stomach flowing backward into the esophagus).

Barium (a material that can increase the identification of gastrointestinal abnormalities during X-rays) studies of the upper gastrointestinal tract are rarely useful in the diagnosis of GERD because of poor sensitivity in diagnosing inflammation of the esophagus.

However, barium studies can be considered in patients who have dysphagia (difficulty swallowing) because they may show strictures (narrowing) of the esophagus as a consequence of long-standing inflammation. Reflux of barium back into the esophagus during a barium esophogram (an X-ray study of the esophagus using barium) is of unclear utility in evaluating patients with reflux disease, since the normal burp mechanism may give a false positive result.

In people who have persistent symptoms despite an adequate trial of therapy, 24-hour pH studies in the presence of therapy should be considered. If the esophagus is still exposed to elevated levels of acid, GERD can be considered. However, if acid exposure is within normal limits and symptoms persist, another cause for the symptoms should be sought.

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