Because symptoms are similar to those of gastroesophageal reflux disease, achalasia is often misdiagnosed, explained Eric Low, MD, MPH, gastroenterology fellow at University of California, San Diego at Digestive Disease Week 2022.
Eric Low, MD, MPH, gastroenterology fellow at University of California, San Diego, explained the clinical manifestation of ahcalsia and the challenges of diagnosing the rare condition at Digestive Disease Week 2022.
Can you explain what achalasia is, and how it manifests clinically?
Achalasia, it's a rare esophageal motility disorder. It's characterized by impaired relaxation of the lower esophageal sphincter, so it's the sphincter that connects the esophagus to the stomach. Normally, during swallowing, when you initiate a swallow, the lower esophageal sphincter will open up and allow food to go from the esophagus into the stomach. A normal transition.
Another characteristic feature of achalasia is ineffective esophageal peristalsis. Patients with achalasia don't have the ability to normally move food down the esophagus like in normal physiology. Individuals with a achalasia unfortunately have a double whammy against normal swallowing. They can't move the food in the right direction, and then they also have to push against a tight sphincter down to the bottom of the esophagus that is hard to push against. As you can imagine, individuals and achalasia have typically dysphasia for both solids and liquids. Other common symptoms of achalasia include regurgitation, heartburn, noncardiac chest pain, and weight loss.
As a rare disorder, is there a delay in diagnosis for achalasia? What are the challenges around misdiagnosis?
Achalasia is a rare disease in general. The incidence is about 1 in 100,000 persons per year, and then the prevalence is about 10 per 100,000 persons per year. It is often misdiagnosed because there's so much overlap in symptoms with gastroesophageal reflux disease (GERD), which is very, very prevalent and has a very high incidence in the US.
There's a recent study that showed about greater than 80 million people will experience symptoms of GERD, so sometimes achalasia patients are misdiagnosed as having gastroesophageal reflux disease or GERD because of the overlap in symptoms such as heartburn, regurgitation. In order to bridge this gap and reduce the amount of time that patients spend with the symptoms or amount of time being undiagnosed with achalasia, typically patients will undergo an upper endoscopy procedure. That can often be normal, so the esophagus can look normal, and patients, again, are still misdiagnosed as having gastroesophageal reflux disease. So it is important, if they still continue to have symptoms despite being on PPI [proton-pump inhibitor] therapy, that they undergo additional evaluation with either a barium esophagram or high resolution esophageal manometry in order to diagnose their dysphasia issue.