Eosinophilic esophagitis (EoE) and achalasia share overlapping clinical and histologic features, creating diagnostic ambiguity. We describe a late-adolescent male patient with progressive dysphagia and esophageal eosinophilia who was initially treated for EoE without symptomatic improvement despite histologic remission. High-resolution esophageal manometry (HREM) and functional lumen imaging probe testing (EndoFLIP) findings were consistent with type II achalasia. The patient chose to undergo a per-oral endoscopic myotomy (POEM) with symptomatic resolution, supporting achalasia as the primary diagnosis. This case highlights the importance of esophageal motility testing and patient-centered discussions on therapeutic options when dysphagia persists despite treatment of EoE.

Idiopathic achalasia is a rare esophageal motility disorder characterized by the selective degeneration of inhibitory myenteric neurons. Its genetic basis remains poorly defined. We investigated whether rare coding variants may contribute to disease susceptibility. Exome sequencing was performed in 31 individuals with idiopathic achalasia and seven unaffected relatives. Candidate variants were prioritized using phenotype-driven filtering and assessed through in silico and structural analysis of publicly available gene expression and single-cell transcriptomic datasets. No pathogenic or likely pathogenic variants were identified in achalasia-associated genes. A gene-agnostic analysis identified two rare heterozygous missense variants in unrelated patients: AFG3L2 c.2105G>A (p.Arg702Gln) and POLG c.1760C>T (p.Pro587Leu). Both genes encode mitochondrial proteins involved in neuronal homeostasis. The variants affected conserved residues, mapped to functionally relevant protein regions, and were predicted by multiple computational approaches to affect protein stability and function. Both genes were highly expressed in esophageal tissue, with AFG3L2 showing enrichment in enteric neuronal populations. These exploratory findings support a potential link between mitochondrial dysfunction, enteric neurodegeneration, and idiopathic achalasia. Rare mitochondrial-related variants may contribute to disease susceptibility in selected individuals by increasing vulnerability of inhibitory enteric neurons, although functional validation and larger studies are required. Accordingly, our findings should be considered hypothesis-generating rather than evidence of causality.

Peroral endoscopic myotomy (POEM) is an effective and safe treatment for achalasia, but short-term follow-up studies suggest an increased risk of gastroesophageal reflux after treatment. The aim of this study was to evaluate the risk of reflux esophagitis and the long-term complications in achalasia patients more than 5 years after POEM. This prospective cohort study included achalasia patients who underwent POEM between August 2011 and December 2019 and were scheduled for follow-up upper gastrointestinal endoscopy at least five years after treatment. Multivariate regression was used to assess predictive factors for reflux esophagitis after POEM. In total 161 achalasia patients were included of whom 153 completed questionnaires. Median age at follow-up was 56 years and 49.7% were female. Reflux esophagitis was diagnosed in 67 patients (41.6%, 95%-CI 34.0%-49.2%), with 22 of these cases classified as severe (grade C/D, 32.8%). Prior laparoscopic Heller myotomy (OR 0.44, 95%-CI 0.20-0.98) and retreatment with PD (OR 0.36, 95%-CI 0.17-0.75) were associated with lower observed rates of reflux esophagitis. Factors associated with severe reflux esophagitis (grade C/D) included BMI (OR 1.13, 95%-CI 1.04-1.23) and PD after POEM (OR 0.12, 95%-CI 0.02-0.93). Barrett esophagus was observed in five patients (3.1%). Peptic strictures were seen in three patients (1.9%) necessitating dilation and no cases of esophageal adenocarcinoma were identified. Reflux esophagitis remains a common long-term finding in achalasia patients more than 5 years after POEM and is classified as severe in nearly one-third of these cases.

Third-space endoscopy uses the submucosal layer as an intentional working corridor to enable dissection, myotomy, or enucleation while preserving organ integrity. The aim of this article was to provide a concise, procedure-based overview of established third-space endoscopic tunneling techniques - peroral endoscopic myotomy (POEM) including major variants, endoscopic submucosal tunnel dissection (ESTD) and submucosal tunneling endoscopic resection (STER) - while discussing endoscopic submucosal dissection (ESD) as the foundational submucosal dissection technique and endoscopic intermuscular dissection as an advanced intermuscular extension.

Eosinophilic esophagitis (EoE) is a chronic immune-mediated disease characterized by esophageal dysfunction and eosinophilic inflammation. Persistent dysphagia despite histologic remission should prompt evaluation for alternative etiologies. A 10-year-old male with asthma and eczema presented with progressive solid food dysphagia, daily non-bilious emesis, and weight loss. Endoscopy confirmed EoE, with up to 35 eosinophils per high-power field. Despite proton pump inhibitor therapy and dairy/soy elimination, symptoms worsened, and requiring hospitalization. Repeat endoscopy showed distal eosinophilia and narrowing, initially presumed fibrostenotic, and requiring dilation. Treatment was escalated to dupilumab and enteral nutrition. Subsequent endoscopies showed histologic remission but persistent narrowing and dysphagia despite serial dilations. Esophagram raised concern for abnormal transit and retained food. Endoluminal Functional Lumen Imaging Probe and esophageal manometry diagnosed type II achalasia. Following pneumatic dilation of the lower esophageal sphincter, dysphagia resolved. This case highlights the importance of considering motility disorders in refractory EoE symptoms.

This case report details the anesthetic management of a young male in his early thirties presenting with a benign left-sided bronchoesophageal fistula (BEF) secondary to tuberculosis, superimposed upon type 1 achalasia cardia posted for video-assisted thoracoscopic surgery (VATS) transthoracic BEF repair. Gentle intermittent positive pressure ventilation to prevent air leakage through fistula, taking extreme aspiration precautions, and avoidance of positive pressure ventilation postoperatively is key anesthetic considerations. The feasibility of VATS repair for complex fistulas relies entirely on the anesthesiologist's ability to provide a quiet, collapsed operative field, reinforcing the symbiosis between the surgical and anesthetic teams.