Achalasia articles from across Nature Portfolio

Achalasia is a rare motility disorder of the esophagus resulting from abnormal immune responses, but the immunologic mechanism is unclear. Here the authors use scRNA-seq of PBMC and esophageal lower sphincter tissue and find C1QC⁺ macrophages and tissue-resident memory T cells with expanded compositions and altered transcriptional profiles in achalasia.

Achalasia is a disorder of the oesophageal smooth muscle characterized by impaired lower oesophageal sphincter relaxation and absent or spastic oesophageal body contractions. This Primer reviews the epidemiology, pathophysiology, diagnosis and management of achalasia, as well as patient quality of life and areas for further research.

High-resolution manometry (HRM) has transformed our understanding of oesophageal motility disorders, in particular achalasia. In this Consensus Statement, the authors explore the effect HRM has had on the diagnosis and management of achalasia and related syndromes.

Peroral endoscopic myotomy (POEM) is a novel treatment for achalasia and other spastic oesophageal motility disorders. Although technically demanding, this technique compares favourably with other therapeutic approaches such as laparoscopic Heller myotomy and pneumatic dilation. In this Review the authors describe the technique, the indications and contraindications, safety and efficacy of POEM.

Johannes Schumacher and colleagues report the results of a genetic association study of idiopathic achalasia, a rare motility disorder of the esophagus. They show that common variation in the HLA-DQ region is strongly associated with achalasia risk, implicating immune-mediated processes in this disorder.

Post hoc analysis of treatment responses from a European achalasia trial confirms that subtyping of patients with achalasia does help direct therapy. The high success rates for types I and II achalasia with either pneumatic dilatation or laparoscopic Heller myotomy support the recommendation that available local expertise should be a major consideration in treatment choice.