According to the Montreal definition, “[gastro-oesophageal reflux disease (GORD)] is a condition which develops when the reflux of stomach contents causes troublesome symptoms and/or complications.”1 GORD has a negative effect on quality of life and is frequently encountered in clinical practice, with an estimated prevalence of around 24% in Europe.2 In the US, GORD-related healthcare costs account for $9 billion per year.3 A variety of symptoms are associated with GORD—heartburn and regurgitation are typical symptoms, while chest pain, cough and sore throat are considered atypical symptoms—but none is pathognomonic.
In case of a typical presentation of GORD in a young patient, and in the absence of alarm signs (e.g. bleeding, dysphagia, weight loss), it is common practice to treat the GORD without investigation. In other cases, upper gastrointestinal endoscopy is usually the first-line examination, more to rule out mucosal complications than to make a positive diagnosis of GORD. Although the presence of erosive oesophagitis is specific to GORD, most patients in whom GORD is suspected based on their clinical presentation have normal endoscopy findings. In this situation, ambulatory reflux monitoring (either pH or pH-impedance monitoring) may be required to identify reflux episodes, to link them with symptom occurrence and then to confirm the clinical diagnosis of GORD. Another common clinical presentation is a patient with symptoms suggestive of GORD that persist despite proton pump inhibitor (PPI) therapy. Indeed 20–60% of patients with GORD-suggestive symptoms are not satisfied with PPI therapy.4,5 After evaluating a patient’s compliance with their treatment, complementary examinations are indicated to determine if resistance to treatment is secondary to persistent GORD, to reflux hypersensitivity or to an erroneous diagnosis of GORD.
Here, we report 10 conditions that clinicians should be aware of to avoid making an erroneous diagnosis of GORD. The discussion draws on a combination of published data and clinical experience.