Triple A syndrome-related achalasia treated by per-oral endoscopic myotomy: Three case reports

Abstract

Background: Triple A syndrome is a rare autosomal recessive disease characterized by adrenocorticotropic hormone-resistant adrenal insufficiency, alacrima and achalasia. In the last 5 years, per-oral endoscopic myotomy (POEM) has proved highly successful in treating primary achalasia over the long term, but its long-term performance has not been certified by achalasia related to Triple A syndrome.

Case summary: Triple A syndrome is a rare autosomal recessive disease characterized by adrenocorticotropic hormone-resistant adrenal insufficiency, alacrima and achalasia. In the past 5 years, POEM has proved highly successful in treating primary achalasia over the long term, but its long-term performance has not been certified by achalasia related to Triple A syndrome. Eckardt scores and esophageal manometry improved significantly during the 2 years following POEM; however, grade-A reflux esophagitis recurred in 66.7% of patients in 12 mo post-procedure.

Conclusion: Based on these case studies, POEM is efficacious and safe for a treatment of achalasia associated with Triple A syndrome.

Keywords: Achalasia; Case report; Per-oral endoscopic myotomy; Triple A syndrome.