Atypical presentations and pitfalls of achalasia.

This article focuses on the characterization of typical and atypical clinical features of achalasia, a rare esophageal motility disorder, and their impact on diagnostic delays and misdiagnoses. In a retrospective analysis of 300 patients over 30 years, typical symptoms such as dysphagia and regurgitation were common, but atypical symptoms—including heartburn, vomiting, and extraesophageal manifestations—occurred in over 60% of cases and contributed to diagnostic delays averaging six months. Misdiagnoses were frequent, with gastroesophageal reflux disease (GERD) and eosinophilic esophagitis (EoE) being the most common incorrect initial diagnoses, often due to overlapping symptoms and misleading findings on endoscopy, barium swallow, and manometry. The study highlights that atypical presentations and diagnostic pitfalls across clinical and instrumental evaluations complicate timely diagnosis, underscoring the need for heightened clinical awareness and combined diagnostic approaches to improve accuracy in identifying achalasia.