Diagnosis and treatment of pseudoachalasia: How to catch the mimic

Abstract

Pseudoachalasia, or secondary achalasia, is an uncommon esophageal dysmotility syndrome with symptoms and manometric findings indistinguishable from primary achalasia, but due to any mechanism other than idiopathic degeneration of the inhibitory neurons of the esophageal submucosal myenteric plexus. Whilst pseudoachalasia is rare, affecting some 1.4-5.4% of all achalasia patients, it is essential this diagnosis is always considered and excluded, as the treatment and outcomes for these patients will be very different from those with true achalasia. Pseudoachalasia can be difficult to differentiate from primary or "idiopathic achalasia". Several particular clinical features have been described as more common in patients with pseudoachalasia than in achalasia, but because of the low prevalence of this condition, the positive predictive value remains low. The majority of patients with pseudoachalasia have an underlying malignancy, predominantly gastro-esophageal adenocarcinoma, which is usually advanced. Management revolves around treating the underlying cause where possible, as this may lead to reversal of the esophageal dysmotility. In patients presenting with symptoms and manometry findings consistent with achalasia, the diagnosis initially should be one of an achalasia-like syndrome. Idiopathic achalasia can then only be confirmed after other potential causes have been considered and excluded. We describe a case of pseudoachalasia encountered in our clinical practice, followed by a review of current practice regarding diagnosis and management of pseudoachalasia.