Twenty-six years of misdiagnosis as gastroesophageal reflux disease in a patient with achalasia presenting with chronic dysphagia: a case report

Impaired relaxation of the lower esophageal sphincter and absent peristalsis throughout the esophageal body constitute the core pathological manifestations of achalasia. High-resolution manometry is rarely accessible at primary medical institutions. Coupled with substantial overlap between its clinical manifestations and gastroesophageal reflux disease, missed diagnosis and prolonged misdiagnosis occur frequently. This report describes a 70-year-old male patient afflicted with progressive dysphagia for as long as 26 years. Repeated esophagogastroduodenoscopy (EGD) misclassified his complaint as gastroesophageal reflux disease, and proton pump inhibitors only relieved symptoms transiently. His clinical status deteriorated drastically over the past three months, accompanied by a 5-kilogram weight loss. Combining typical clinical history, chest computed tomography, EGD and the pathognomonic bird-beak deformity observed on upper gastrointestinal barium swallow, a clinical diagnosis of achalasia was established. His initial Eckardt score was 8. The patient received peroral endoscopic myotomy (POEM) without intraoperative complications, and his dysphagia resolved rapidly after surgery. No symptom relapse was recorded in the 6-month postoperative follow-up. His body weight recovered by 4 kg, and the follow-up Eckardt score dropped to 0. This case delivers critical clinical implications. Clinicians tend to confuse achalasia with gastroesophageal reflux disease, and short-term symptomatic improvement induced by proton pump inhibitors may potentially mask the underlying disease and contribute to diagnostic delay. When high-resolution manometry cannot be performed, a definitive diagnosis can be reached through typical medical history, barium radiography and EGD evaluation. POEM delivers satisfying safety profiles and prominent short-term efficacy for patients suffering from long-standing achalasia.