As a rare condition, esophageal achalasia is one of the most challenging motility disorders to diagnose and treat within the realm of pediatric gastroenterology. Normalized esophageal manometry parameters in children are lacking and adult data are used in its place. However, the team at NewYork-Presbyterian Hospital/Phyllis and David Komansky Center for Children’s Health at Weill Cornell Medical Center is spearheading establishing eHRM parameters for evaluating motility abnormalities within the lower esophageal sphincter. Pediatric-derived measurements may prove useful for pediatric gastroenterologists when identifying a particularly baffling presentation of the disorder.

“Achalasia is a condition that remains uncommon in children,” explained Thomas Ciecierega, MD, Director of the Pediatric Motility Center at NYP/Komansky Center and Assistant Professor of Pediatrics at Weill Cornell Medical College. According to a study published in the World Journal of Gastrointestinal Endoscopy (2014;6:105-111), the instance of achalasia is 0.11 of 100,000 children annually, compared with 1 of 100,000 adults annually; it is even rarer in children younger than 5 years of age. Occurring in isolation, it may present as any combination of progressive dysphagia of solids and liquids, vomiting of undigested food, failure to thrive with weight loss and recurrent choking, thus compounding its mysterious etiology.

A Treatment and Research Center

Despite the condition’s rarity, Dr. Ciecierega and his team treat several young patients with achalasia each year. “Most centers will see only one or two cases per year,” Dr. Ciecierega noted. “But because our center is a regional referral center, we see many more patients.”

In recognizing their unique position from seeing so many presentations of achalasia, Dr. Ciecierega and his colleagues resolved to examine the current measurements best suited to categorize esophageal obstruction within children.

While achalasia has long been evaluated with radiology and endoscopy, the only way to diagnose the condition is with esophageal high-resolution manometry (eHRM). The Pediatric Motility Center is one of the few centers equipped with the ManoScan ESO (Given Imaging) test and high-resolution anorectal manometry. (In addition, high-resolution colonic manometry and antroduodenal manometry tests were added in January 2016).

The vast majority of Dr. Ciecierega’s patients found to have achalasia were diagnosed on the basis of abnormal measurements using the eHRM and barium fluoroscopy. However, Dr. Ciecierega noted that in adults, the 4-second integrated relaxation pressure (IRP4s) test has been used successfully to examine lower esophageal sphincter function and obstruction of the esophagus. Until earlier this year, no study had adequately assessed the value of employing IRP4s to predict achalasia in children.

“We tend to base everything on an adult population, and then we evaluate how much we can apply this to children,” Dr. Ciecierega added. “But we often fail to acknowledge that there may be some significant differences along the way. It’s especially important to remedy some of these potential changes within our field.”

As a means of evaluating the utility of the IRP4s test to predict achalasia in children, the team reviewed records at NYP/Komansky Center for patients undergoing eHRM. They recruited children with abnormal esophageal peristalsis and abnormal barium esophagram. Their findings were described in the Journal of Pediatric Gastroenterology and Nutrition (2015;61:521) and presented at the 7th European Pediatric GI Motility Meeting in October 2015 in Sorrento, Italy.

The results showed that esophageal length and basal lower esophageal sphincter pressure were similar between a control group (16 children, 9M) and in children identified to have achalasia (12 children, 8M). However, the IRP4s was significantly greater in the achalasia group (17.0 ± 8.9 mm Hg) versus the control group (7.0 ± 3.6 mm Hg). Receiver operating curve analysis predicted an IRP4s cut-point of 12.3 mm Hg. Based on the cut-point, the team found three false negatives and a single false positive.

Although the study is limited to a small sample size and does not account for differences in age ranges between the groups, the results nonetheless demonstrate that IRP4s may be a useful measurement in diagnosing achalasia in children, especially when evaluated in conjunction with other clinical signs.

“When evaluated alongside esophageal obstruction on barium fluoroscopy and abnormal peristalsis on eHRM, the IRP4s parameter becomes a crucial measurement aid,” Dr. Ciecierega noted. “At NYP/Komansky Center, we have the opportunity to work with other centers who may provide additional support for the use of the eHRM measurement. We know that with achalasia, a complete differential diagnosis must be considered, and IRP4s may be a key component in diagnosis.”