Gastroesophageal Reflux Disease - Diagnosis

Diagnosis

A detailed historical knowledge is vital for an accurate diagnosis. Useful investigations may include ambulatory Esophageal pH Monitoring, barium swallow X-rays, esophageal manometry, and Esophagogastroduodenoscopy (EGD).

The current gold standard for diagnosis of GERD is esophageal pH monitoring. It is the most objective test to diagnose the reflux disease and it also allows to monitor GERD patients in regards of their response to medical or surgical treatment. One practice for diagnosis of GERD is a short-term treatment with proton pump inhibitors, with improvement in symptoms suggesting a positive diagnosis. According to a systematic review, short-term treatment with proton pump inhibitors may help predict abnormal 24-hr pH monitoring results among patients with symptoms suggestive of GERD. In this study, the positive likelihood ratio of a symptomatic response detecting GERD ranged from 1.63 to 1.87, with sensitivity of 0.78 though specificity was only 0.54.

In general, an EGD is done when the patient either does not respond well to treatment or has alarm symptoms including dysphagia, anemia, blood in the stool (detected chemically), wheezing, weight loss, or voice changes. Some physicians advocate either once-in-a-lifetime or 5/10-yearly endoscopy for patients with longstanding GERD, to evaluate the possible presence of dysplasia or Barrett's esophagus, a precursor lesion for esophageal adenocarcinoma.

Esophagogastroduodenoscopy (EGD) (a form of endoscopy) involves insertion of a thin scope through the mouth and throat into the esophagus and stomach (often while the patient is sedated) in order to assess the internal surfaces of the esophagus, stomach, and duodenum.

Biopsies can be performed during gastroscopy and these may show:

• Edema and basal hyperplasia (non-specific inflammatory changes)
• Lymphocytic inflammation (non-specific)
• Neutrophilic inflammation (usually due to reflux or Helicobacter gastritis)
• Eosinophilic inflammation (usually due to reflux). The presence of intraepithelial eosinophils may suggest a diagnosis of eosinophilic esophagitis (EE)if eosinophils are present in high enough numbers. Less than 20 eosinophils per high-power microscopic field in the distal esophagus, in the presence of other histologic features of GERD, is more consistent with GERD than EE.
• Goblet cell intestinal metaplasia or Barretts esophagus
• Elongation of the papillae
• Thinning of the squamous cell layer
• Dysplasia or pre-cancer
• Carcinoma

Reflux changes may be non-erosive in nature, leading to the entity "non-erosive reflux disease".