Phenotypes and clinical context of hypercontractility in high-resolution esophageal pressure topography (EPT)

Abstract

Objectives: This study aimed to refine the criteria for esophageal hypercontractility in high-resolution esophageal pressure topography (EPT) and to examine the clinical context in which it occurs.

Methods: A total of 72 control subjects were used to define the threshold for hypercontractility as a distal contractile integral (DCI) greater than observed in normals. In all, 2,000 consecutive EPT studies were reviewed to find patients exceeding this threshold. Concomitant EPT and clinical variables were explored.

Results: The greatest DCI value observed in any swallow among the control subjects was 7,732 mm Hg-s-cm; the threshold for hypercontractility was established as a swallow with DCI >8,000 mm Hg-s-cm. A total of 44 patients were identified with a median maximal DCI of 11,077 mm Hg-s-cm, all with normal contractile propagation and normal distal contractile latency, thereby excluding achalasia and distal esophageal spasm. Hypercontractility was associated with multipeaked contractions in 82% of instances, leading to the name "Jackhammer Esophagus." Dysphagia was the dominant symptom, although subsets of patients had hypercontractility in the context of esophagogastric junction (EGJ) outflow obstruction, reflux disease, or as an apparent primary motility disorder.

Conclusions: We describe an extreme phenotype of hypercontractility characterized in EPT by the occurrence of at least a single contraction with DCI >8,000 mm Hg-s-cm, a value not encountered in control subjects. This phenomenon, branded "Jackhammer Esophagus," was usually accompanied by dysphagia and occurred both in association with other esophageal pathology (EGJ outflow obstruction, reflux disease) or as an isolated motility disturbance. Further studies are required to define the pathophysiology and treatment of this disorder.

Figure 1

Esophageal pressure topography (EPT) of swallows with extreme DCI and multipeaked contractions. The white bold line represents the pressure tracing 3 cm proximal to the EGJ. The white arrows indicate inspiration as signaled by diaphragmatic contraction. The white dashed lines indicate the timing of interpeak pressure troughs. In Panel A the pressure troughs are synchronized with inspiration whereas in Panel B they are not.

Figure 2

Correlation between Distal Contractile Integral (DCI) and Integrative Relaxation Pressure (IRP) for each subject’s greatest DCI swallow. For the control subjects (gray diamonds) the coefficient correlation was 0.05 (p=0.70). For the hypercontractile swallows (dots) the Pearson coefficient correlation was 0.05 (p=0.77). No significant correlation was observed in any subgroup (multipeaked synchronized with respiration, r=0.15, p=0.54; multipeaked not synchronized with respiration, r=0.20, p=0.47); and not multipeaked, r=−0.2, p=0.97).

Figure 3

3-D landscape plots illustrating examples of (A) multipeaked hypercontractility (jackhammer) synchronized with inspiration, (B) multipeaked hypercontractility not synchronized with inspiration, and (C) non-multipeaked hypercontractility.

Figure 4

Examples of patients with Jackhammer Esophagus. Panels A and B are from a 76-year old woman with a complaint of dysphagia and chest pain. The first EPT study revealed Jackhammer Esophagus with a DCI of 9,530 mmHg-s-cm. The patient received PPI therapy without symptom improvement. One year later a second EPT study (Panel A) included a swallow with a DCI of 12,560 mmHg-s-cm. EUS demonstrated a 6-cm distal segment of thickened esophageal wall and Botox^™ was injected in this area. Symptoms improved and a third EPT study 2 months later (Panel B) showed normalization (greatest DCI = 4,165 mmHg-s-cm). The patient illustrated in Panels C and D, was a 26-year old woman with a complaint of chest pain and dysphagia. Upper endoscopy was normal. EPT study demonstrated Jackhammer Esophagus (greatest DCI = 18,655 mmHg-s-cm, Panel C) and EUS showed wall thickening (12 mm) in the lower third of the esophagus. Symptoms rapidly improved after treatment with sildenafil. Nine months later the patient was still taking sildenafil (25 mg qd) with minimal symptoms and a normalized EPT study (greatest DCI = 3,810 mmHg-s-cm, Panel D).