Clinical spectrum and presentation of patients with absent contractility

Primary absent contractility is an uncommon finding on high-resolution manometry (HRM). The goal of this study was to describe the clinical spectrum and presentation of patients with primary absent contractility.

We queried a prospectively maintained esophageal testing registry to identify patients with absent contractility who presented between August 2016 and September 2018. Patients with poor quality studies and patients with insufficient clinical records as well as those with a history of previous foregut surgery or esophagram consistent with achalasia were excluded.

A total of 2068 patients underwent HRM during the study period. Of these, 66 patients (3.2%) met the inclusion criteria and formed the study cohort; 52 patients in the cohort had an upper gastrointestinal contrast study, 50 had endoscopy, and 51 completed a foregut symptom questionnaire. Thirty-eight patients (57.6%) were women. The mean age was 56.6±13.86 years, and the mean body mass index was 26.37±5.7 kg/m². Almost half of the patients (29/66, 43.9%) were undergoing lung transplant evaluation, and 22 patients (37.3%) had a history of autoimmune immune-mediated or myopathic diseases. On the symptom questionnaire, 42 of 51 patients (82.3%) reported heartburn, 24 of 51 (47.1%) reported dysphagia, and 23 of 51 patients (45.1%) reported both. On ambulatory pH monitoring, 23 of 37 patients (62.2%) had pathological esophageal acid exposure (acid exposure time >6%).

Absent contractility on HRM is uncommon and is frequently associated with connective tissue, myopathic or autoimmune disorders. The usual clinical presentation is reflux, dysphagia or both.