Gastroesophageal reflux is an incredibly common disorder affecting up to 40% of adults. With such a common disease, you might expect the diagnosis to be fairly straightforward. In fact it is particularly complex as we will see. There are three main components, including symptoms of reflux, the damage it causes, and measurements of acid or other fluids coming up from the stomach into chest or airway. As we will review, there is a great deal of variability to the diagnosis making no one feature or test diagnostic in all people.
Let us look first at symptoms. Many people present with heartburn or regurgitation. Heartburn may be a burning in the chest. It is to be distinguished from indigestion or dyspepsia which or symptoms of pain in the upper abdomen below the breastbone or in the belly. Regurgitation is a symptom of fluid coming up into the chest or throat. Regurgitation often occurs when lying down because it is easy for the fluid to come up when there is no gravity impeding it. Regurgitation is fairly reliable as a symptom of reflux. Heartburn is not. Heartburn, as the name implies, can easily be a symptom of heart disease such as angina. Many people have died thinking that their heart attacks were heartburn. Similarly many people have had angiograms of their heart for reflux. In fact the overlap is so great that it is unwise to have an endoscopy for chest pain that is presumed to be from heartburn before having adequate evaluation to ensure that there isn’t a heart problem. Therefore heartburn is not diagnostic of reflux. Regurgitation is fairly typical of reflux. Chest pain is often from reflux but do not bet your life on it.
About half of the people who present with Gastroesophageal Reflux Disease do not have heartburn. Many of them present with predominantly throat symptoms characterized as Laryngopharyngeal Reflux. They may have cough, throat clearing, sore throat, hoarseness, or lump in the throat which we call globus. Many other conditions can cause very similar symptoms. Throat clearing and sore throat may also come from sinus conditions such as allergies. Cough can arise from respiratory infections, postnasal drip, smoking, asthma as well as many other conditions. There is no clearly defining symptom that one can safely make the diagnosis of Laryngopharyngeal Reflux.
Hundreds of thousands of Americans are going to the emergency room with chest pain from reflux. Even more are going to ear nose and throat doctors for throat clearing and cough from their reflux. To add to the problem, many people have precancerous changes or esophageal cancer without having ANY symptoms. If we cannot rely on symptoms to make the diagnosis of Gastroesophageal Reflux Disease (GERD), how is the diagnosis established?
Endoscopy of the upper G.I. tract (EGD) is an examination of the esophagus, stomach and duodenum that allows us to detect damage such as erosions and ulcers and blockages called strictures. We can take biopsies while the patient is comfortably sedated. The test is generally safe but is performed with a sedative or anesthesia to make the test tolerable and comfortable. Transnasal Endoscopy (TNE) can be performed in the office without sedation. By numbing up the nose we can examine the throat and the esophagus and upper stomach without requiring anesthesia or day off from work.
Do I need an endoscopy?
Endoscopy and TNE can diagnose damage from reflux. We can see erosions where the acid comes into the esophagus from the stomach. We can see precancerous changes called Barrett’s esophagus. Damage in the throat is seen best by TNE, because the test is performed seated. The changes of the larynx (voice box) overlap other disorders and can be nonspecific. The majority of patients with reflux do not have damage of the esophagus at the time of endoscopy. Many or most patients are treated with medications before endoscopy based on their symptoms. That may cover up the damage.
Proton Pump Inhibitors
Symptoms are not diagnostic of reflux in many people, and endoscopy is very often not diagnostic. Many physicians prescribe strong acid blocking medications called Proton Pump Inhibitors (PPI) in patients with symptoms that are compatible with reflux. When the medications resolve the typical symptoms, it is likely that GERD was truly the cause of the symptoms. I see many patients who have symptoms that may be from reflux, have had normal endoscopy and did not respond to treatment. This is where it gets very tricky. We thought the symptoms were from reflux, but the endoscopy was not diagnostic and the treatment failed. So how do we tell if these patients have reflux?
Acid pH Testing
These people need testing of the reflux with probes that measure either acid reflux or non acid reflux. We can test reflux with three different types of probes. Impedance pH testing allow testing of acid reflux and non acid reflux and bile reflux. Wireless pH testing lets us look at the esophageal acid exposure without wires in the nose. Pharyngeal pH testing is ideal for evaluating whether reflux is causing cough, throat clearing and hoarseness.
How Is Reflux Diagnosed?
So how is reflux diagnosed? Many people have typical features of heartburn and regurgitation. This is diagnostic of Gastroesophageal Reflux when it is responsive to acid blockers such as Proton Pump Inhibitors. Endoscopy can be diagnostic when there is damage to the esophagus such as erosions or ulcerations or precancerous changes of Barrett’s Esophagus. A normal endoscopy does not exclude GERD or LPR. An abnormal laryngoscopy may be suggestive of LPR but there is a lot of overlap with other conditions. Failure to respond to Proton Pump Inhibitors does not exclude GERD or LPR but requires strong consideration of other disorders. Esophageal or pharyngeal pH and impedance tests may clarify if reflux is truly responsible for the symptoms when the diagnosis is not straightforward.