From Medical Literature
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Presenting with typical symptoms of gastroesophageal reflux disease (GERD), yet PPI shows no effect and endoscopy appears normal? This could signify a functional disorder of the esophagus. The new Rome V criteria delineate the often lengthy diagnostic journey.
Chest pain, heartburn, globus sensation, or dysphagia may indicate functional disorders of the esophagus when morphological and inflammatory changes, motility disorders, or GERD are absent. This could be attributed to altered interactions between peripheral sensory signals and central processing. The updated Rome V criteria describe five distinct entities categorized under “Esophageal Disorders of Gut-Brain Interaction.” To derive a diagnosis, Prof. Dr. Prakash Gyawali from Washington University School of Medicine and his team utilize corresponding diagnostic algorithms.
1. Functional Chest Pain
Patients report retrosternal chest pain that is distinct from typical heartburn and cannot be explained by GERD or other mucosal or motility disorders. Cardiac causes must be excluded initially. Following this, a trial of Proton Pump Inhibitors (PPI) or potassium-competitive acid blockers (P-CAB) should be administered for eight weeks. If the patient does not respond, an endoscopy is warranted.
Previously in the Rome IV criteria, an esophageal biopsy was recommended for all patients with chest pain; however, the Rome V guidelines specify that biopsy is only needed when symptoms are meal-related (to avoid overlooking eosinophilic esophagitis). If pathological findings are absent, diagnostic evaluations should include functional testing with reflux tests, such as pH monitoring. Additionally, motility disorders, like achalasia, should be ruled out through manometry.
Treatment generally involves tricyclic antidepressants, serotonin-norepinephrine reuptake inhibitors, or trazodone, aiming for neuromodulation of pain. Cognitive behavioral therapy related to gastrointestinal issues, gut-directed hypnotherapy, and biofeedback are also recommended. The overall prevalence of functional chest pain is estimated at 1.4%. Among those suffering from non-cardiac chest pain, 50-60% have GERD, 15-18% experience esophageal motility disorders, and 32-35% have functional chest pain.
2. Functional Heartburn
This disorder is defined as retrosternal burning without esophagitis, obstruction, or motility disorders. Symptoms persist despite treatment with PPI or P-CAB for at least eight weeks. Like functional chest pain, GERD, obstructive, and peristaltic disorders must be excluded. The treatment approach mirrors that of functional chest pain, involving neuromodulatory medications and behavioral therapy. It is essential to avoid excessive invasive tests and unnecessary dietary restrictions. In this context, antireflux surgery has also shown to be ineffective. Estimating the prevalence of this condition can be challenging, but authors suggest that 20–30% of patients referred to gastroenterology due to heartburn suffer from functional heartburn.
3. Reflux Hypersensitivity
In this scenario, symptoms include heartburn or chest pain with normal endoscopy and physiological acid exposure. The distinction between this and the previous two categories lies in the correlation of symptoms with reflux, confirmed through monitoring. Patients commonly experience anxiety, depression, and hypervigilance, potentially leading to stress-induced autonomic changes and disturbances in the mucosal barrier. Treatment aligns with the approach for functional chest pain and heartburn, with PPI or P-CAB showing slightly improved efficacy. Various prevalence reports exist for this condition.
4. Globus
Individuals with this condition feel a lump or foreign body sensation in the throat at the level of the jugulum. The symptoms are not painful, occur episodically, and often improve with eating or swallowing. Structural lesions, mucosal changes, GERD, or motility disorders are absent. This disorder is relatively common, with up to 46% of otherwise healthy individuals experiencing it at some point. PPIs may sometimes provide relief, but typically treatment involves education and psychobehavioral approaches. Pharmacotherapy with neuromodulators (e.g., amitriptyline, paroxetine) should be reserved for selected patients.
5. Functional Dysphagia
Patients experiencing this condition report that food feels stuck or passes slowly through the esophagus. There are no structural, mucosal, or motility explanations found. The condition often has a benign and self-limiting course. In mild cases, simple strategies like eating in an upright position, thorough chewing, and drinking fluids afterward may suffice. Other treatments may include psychoeducation, diaphragmatic breathing, confrontation therapy, or hypnotherapy.
Gyawali CP et al. Gastroenterology 2026; doi: 10.1053/j.gastro.2026.02.005
Dr. Vera Seifert
Dr. Vera Seifert is a licensed physician with experience in the medical field (pediatrics and practices of general practitioners). She has been working as a freelance author since 2024.
