Esophageal Dysmotility and Gastroesophageal Reflux Disease Risk in Hypermobile Ehlers-Danlos Syndrome

BACKGROUND & AIMS: Individuals with hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorder have an increased burden of foregut gastrointestinal symptoms, specifically dysphagia and reflux symptoms, vs non-hypermobile individuals. The overall aim of this study was to evaluate esophageal motility and 24-hour pH-impedance patterns among patients with hypermobile Ehlers-Danlos syndrome/hypermobility spectrum disorder and compare these with contemporaneous patient controls. METHODS: Consecutive outpatients with hypermobile Ehlers-Danlos syndrome/hypermobility spectrum disorder and patient controls (non-hypermobile Ehlers-Danlos syndrome/hypermobility spectrum disorder) consulted at 2 tertiary care neurogastroenterology centers underwent high-resolution manometry or 24-hour pH-impedance monitoring to evaluate dysphagia and reflux symptoms, respectively, between January 2010 and February 2022. RESULTS: Three hundred patients (hypermobile Ehlers-Danlos syndrome/hypermobility spectrum disorder, n = 134; patient controls, n = 166) with dysphagia and 229 patients (hypermobile Ehlers-Danlos syndrome/hypermobility spectrum disorder, n = 114; patient controls, n = 115) with reflux symptoms were recruited. Chicago v4.0 normal esophageal motility was the most common high-resolution manometry diagnosis in patients with hypermobile Ehlers-Danlos syndrome/hypermobility spectrum disorder (61.9%), followed by ineffective esophageal motility (29.1%). In a multivariable logistic regression model, hypermobile Ehlers-Danlos syndrome/hypermobility spectrum disorder was not associated with esophageal dysmotility (P = .12). The proportion of patients diagnosed with Lyon v2.0 gastroesophageal reflux disease was not significantly different between patients with hypermobile Ehlers-Danlos syndrome/hypermobility spectrum disorder (26.3%) and patient controls (33.0%; P = .27). Rome IV functional heartburn was the most common diagnosis in patients with hypermobile Ehlers-Danlos syndrome/hypermobility spectrum disorder (62.5%) with reflux symptoms who underwent 24-hour pH-impedance monitoring. CONCLUSION: Patients with hypermobile Ehlers-Danlos syndrome/hypermobility spectrum disorder who present to tertiary units with dysphagia or reflux symptoms and undergo high-resolution manometry or 24-hour pH-impedance monitoring, respectively, are not at increased risk of Chicago v4.0 esophageal dysmotility or Lyon v2.0 gastroesophageal reflux disease compared with non-hypermobile patient controls.