Esophageal symptoms, including chest pain, can be nonspecific when it comes to identifying the underlying pathology. Therefore, an initial evaluation should include a careful upper endoscopy to evaluate for a potential mechanical obstruction (e.g., stricture, hiatal hernia), as well as esophageal biopsies to evaluate for eosinophilic esophagitis (especially with coexisting dysphagia). Supplementary imaging, such as barium esophagram, may also be helpful to exclude an esophageal mechanical obstruction and may provide suggestive evidence for a spastic motility disorder, i.e., tertiary contractions, or rarely a corkscrew appearance [8, 9]. Additionally, gastroesophageal reflux disease is a common cause of esophageal chest pain and thus empiric trial of reflux therapy (i.e., proton pump inhibitor, PPI) or objective testing for reflux (esophageal pH testing) should be considered [10].

Esophageal manometry is the primary test to establish a diagnosis of a spastic esophageal motility disorder [5, 7]. Achalasia (particularly spastic, vigorous, or type III achalasia) could be considered within a spectrum of spastic motility disorders and may share some clinical features, such as an association with esophageal chest pain. Nonetheless, the spastic motility disorders described in the remainder of this chapter (DES, nutcracker esophagus, and jackhammer) should be considered differentiated from achalasia primarily based on normal deglutitive lower esophageal sphincter (LES) pressures on manometry.

With conventional, line-tracing manometry, simultaneous contraction (often defined by a rapid propagation velocity) was the typical diagnostic criterion for DES (Fig. 2.1) though (a) repetitive, (b) multi-peaked, (c) high-amplitude, (d) prolonged-duration, or (e) spontaneous contractions, in addition to required intermittent normal peristalsis, were also occasionally incorporated [3, 5]. Some overlap can be appreciated with the criteria for nutcracker esophagus, which is characterized by high-amplitude contractions, but also sometimes repetitive or long-duration contractions [5].

More recently, high-resolution manometry (HRM) and associated esophageal pressure topography (EPT) have provided enhanced depiction of esophageal motility characteristics and subsequently revised concepts (and subsequently diagnostic criteria) for esophageal motility disorders. Thus, utilizing the improved spatial resolution of HRM, rapidly propagating (simultaneous) esophageal contractions were identified as a nonspecific finding often found in patients with otherwise weak or normal peristalsis [11]. Alternatively, premature swallows, which were defined by a reduced distal latency (the time interval from the onset of swallow to the contractile deceleration point, i.e., end of the fast component of esophageal peristalsis, Fig. 2.1) appeared to represent a distinct pathophysiologic manifestation of abnormal inhibitory innervation [11, 12] and now entail a chief criterion for DES.

Additionally, contractile vigor can be assessed with HRM as a composite measure of pressure amplitude (mm Hg) × contraction duration (s) × contractile length (cm): the distal contractile integral (DCI). Thus, the extreme clinical phenotype of esophageal hypercontractility is defined by swallows of a greater vigor (as defined by elevated DCI) than those observed in asymptomatic controls [7, 13]. Sometimes associated with repetitive or multi-peaked contractions this motility pattern was termed jackhammer esophagus ; thus, it appears possible that this entity may have been represented in former studies describing DES by repetitive, high-amplitude, repetitive and/or long-duration contractions on conventional manometry .

It is worth noting that studies that described DES or nutcracker esophagus using conventional manometry with a single LES pressure sensor (i.e., without the use of an LES pressure sleeve, which was most of them) were susceptible to misidentifying achalasia patients due to the manometric measurement phenomenon known as LES “pseudorelaxation ” (Fig. 2.2): the erroneous but apparent decrease in “LES” pressure related to proximal migration of the LES during swallow-associated esophageal shortening, which can be profound in patients with achalasia.

Finally, while the diagnosis of spastic motility disorders is typically defined by stationary esophageal manometry, symptom-associated or abnormal spastic esophageal contractions may occur infrequently and thus outside a 10–15 swallow manometry study. Consequently, an increased diagnostic yield has been reported for DES by increasing the manometric testing period, and even prolonged, ambulatory manometry (Fig. 2.3) [14–16]. A recent study evaluating stationary HRM and 24-h ambulatory manometry with pH impedance identified esophageal spasm (symptom-associated, simultaneous, and often multi-peaked or repetitive contractions of at least >100 mm Hg and lasting at least 3 s) on ambulatory manometry in 7% (4/59) of patients [16]. None of the 59 patients met the diagnostic criteria for a spastic motility disorder on stationary HRM, though three of the four patients with DES on ambulatory manometry had subtle contractile abnormalities on stationary HRM. However, patient tolerance to prolonged manometry catheter placement and limited availability remain limitations of utilizing ambulatory manometry in typical clinical practice.