Laboratory Studies
Laboratory evaluation usually does not aid in the diagnosis if the patient's history and physical examination findings are unremarkable for other diseases mentioned in the differential diagnosis. All differentials mentioned can present with esophageal dysmotility.
The diagnostic modalities of choice are barium swallow and esophageal manometry.
Blood glucose and hemoglobin A1C levels should be checked to rule out diabetes. However, patients can have esophageal spasm and diabetes concomitantly.
The findings discovered by monitoring a patient's pH can demonstrate reflux, which can present with somewhat similar symptoms. In fact, gastroesophageal reflux is thought by some to trigger esophageal spasm.
Imaging Studies
Barium swallow
Barium swallow or esophagram is the best imaging study to aid in the diagnosis of esophageal spasm by evaluating for nonpropulsive contractions in the esophagus.
Diffuse esophageal spasm has a characteristic appearance of multiple simultaneous contractions causing a corkscrew appearance with segmentation (see the image below).
Barium swallow demonstrates diffuse uncoordinated contractions of the esophagus in a patient with diffuse esophageal spasm.
Unlike in diffuse esophageal spasm, the barium swallow findings for nutcracker esophagus are not specific and can present minimal findings.
CT scanning
Nino-Murcia and colleagues demonstrated thickening of the esophagus with CT scan studies in patients with esophageal spasm. [10] Muscular hypertrophy has been documented in some patients with diffuse esophageal spasm and nutcracker esophagus. The hypertrophy of the muscle wall is the cause of the increased thickness that is observed on CT scan images. The normal thickness of the esophagus is less than 3 mm.
Many other disease processes, including malignancy, cause thickening of the esophagus that can be seen radiographically. Thus, thickening of the esophagus seen on CT scan images should prompt further workup. Even in patients with symptoms consistent with esophageal spasm, thickening seen on CT scan images should not be dismissed as muscular hypertrophy secondary to the esophageal spasms without further investigation.
Ultrasonography
Catheter-based high-frequency intraluminal ultrasound imaging assesses both the sensory function and the motor function of the esophagus. [11] This imaging modality may be useful to differentiate diffuse esophageal spasm, nutcracker esophagus, and achalasia.
Other Tests
Manometry
Two relatively recent advances have revolutionized the performance of clinical esophageal manometry: practical high-resolution manometric (HRM) systems and the development of sophisticated algorithms to display the expanded manometric dataset as esophageal pressure topographic plots. [12, 13]
Two strengths of esophageal pressure topographic plots compared with conventional manometric recordings are the ability to delineate the spatial limits, vigor, and integrity of individual contractile segments along the esophagus and to distinguish between loci of the compartmentalized intraesophageal pressurization and rapidly propagated contractions. [12] See the image below.
High-resolution manometric display of a normal esophageal swallow using esophageal pressure topography. Image courtesy of Wikimedia Commons.
Manometry is the best modality to help diagnose diffuse esophageal spasm as well as esophageal spasm as the cause of noncardiac chest pain. [14] Findings include aperistalsis in greater than 30% of the wet swallows, 20% of contractions being simultaneous, amplitudes greater than 30 mm Hg in the distal three fifths of the esophagus, and, rarely, repetitive contractions or lower esophageal sphincter (LES) dysfunction. Vigorous achalasia can easily be confused with diffuse esophageal spasm. [4]
Diffuse esophageal spasm, when defined by premature contractions measured with distal latency, describes a more clinically homogeneous entity than when defined by contractile front velocity. [15]
The classic definition is more than 2 uncoordinated contractions during 10 consecutive wet swallows (≥20% simultaneous esophageal contractions during standardized stationary motility testing). At least one peristaltic contraction must be present. Artificial neural networks may be useful in the recognition and objective classification of primary esophageal motor disorders investigated with stationary esophageal manometry recordings. [16]
Herbella et al conducted a study in patients with manometric patterns of diffuse esophageal spasm and nutcracker esophagus to determine whether symptoms alone can distinguish primary esophageal motility disorder from gastroesophageal reflux disease, a secondary esophageal motility disorder, and the value of ambulatory pH monitoring. [17] Of the 180 patients with manometric criteria for nutcracker esophagus, 124 (69%) had gastroesophageal reflux that was detected with ambulatory pH monitoring. Of the 56 patients with primary esophageal motility disorder, 31 (55%) were taking proton pump inhibitors. [17] No difference in chest pain prevalence was noted between the groups, but those with primary esophageal motility disorder had greater chest pain symptom severity, whereas patients in the gastroesophageal reflux group had a higher prevalence and severity of heartburn. [17]
Of the 121 patients with manometric criteria for diffuse esophageal spasm, 73 (60%) demonstrated gastroesophageal reflux by ambulatory pH monitoring. [17] Of the 48 patients with primary esophageal motility disorder, 39 (81%) were on proton pump inhibitors. The group with primary esophageal motility had a higher prevalence of dysphagia disorder relative to the gastroesophageal reflux group.
Herbella et al thus demonstrated that two thirds of patients with a manometric pattern of diffuse esophageal spasm or nutcracker esophagus also had gastroesophageal reflux disease, and the symptoms were indistinguishable between primary esophageal motility disorders and gastroesophageal reflux disease. They concluded that esophageal manometry and pH monitoring are crucial to distinguish between primary and secondary esophageal motility disorders and to guide appropriate therapy. [17]
Contraction amplitude is normal.
The distal contractile integral (DCI) is the metric used to define the vigor of the contraction. It is the product of the amplitude, duration, and length of the contraction between the proximal and distal trough.
Nutcracker esophagus is defined as a mean DCI greater than 5000 mm Hg/s/cm over 10 swallows using esophageal pressure topography criteria. This occurs in the context of normal propagation and normal esophagogastric junction relaxation.
Jackhammer esophagus is an extreme phenotype of hypertensive contraction characterized by a DCI greater than 8000 mm Hg/s/cm. This phenotype is never found in asymptomatic patients. [18]
The image below depicts a normal manometric tracing. This depiction uses the older system of pressure tracings (conventional manometric recording) without high-resolution esophageal pressure topography.
This is normal esophageal manometry tracing with normal amplitude of the contractions. The contractions are coordinated because the contractions in the proximal esophagus (top of image) occur before the contractions further distal in the esophagus.
The image below depicts an example of diffuse esophageal spasm.
Esophageal manometry tracing demonstrates diffuse esophageal spasm. Note the multiple uncoordinated contractions in the third tracing from the distal esophagus.
Manometry in patients with nutcracker esophagus demonstrates contractions that progress in an orderly manner, but the amplitude of the contraction is excessive. Amplitude greater than 2 standard deviations above the normal value is considered diagnostic for nutcracker esophagus (see the image below).
Esophageal manometry tracing demonstrates nutcracker esophagus. Note the excessive amplitude of the contractions.
A disassociation may exist between symptoms and the manometric findings.
Esophageal electrical impedance recordings show abnormal transit in diffuse esophageal spasm.
Esophageal manometry may be combined with multichannel intraluminal impedance to obtain pressure and bolus transit information. [19, 20] About half of the patients with diffuse esophageal spasm have normal transit for liquids and fluids, one fourth have abnormal transit for one substance, and one fourth have abnormal transit for both.
Esophageal pH recording and 24-hour ambulatory manometry may improve the detection of esophageal muscle dysfunction. [21] This method shows that in persons presenting with noncardiac chest pain, gastroesophageal reflux symptoms are common and diffuse esophageal spasm is rare.
Procedures
Esophagogastroduodenoscopy (EGD), or upper endoscopy, can reveal associated disorders such as hiatal hernia, reflux esophagitis, and strictures.
Endoscopy is not useful to help diagnose dysmotility, but it may be helpful to exclude erosive esophagitis or stricture.
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Barium swallow demonstrates diffuse uncoordinated contractions of the esophagus in a patient with diffuse esophageal spasm.
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This is normal esophageal manometry tracing with normal amplitude of the contractions. The contractions are coordinated because the contractions in the proximal esophagus (top of image) occur before the contractions further distal in the esophagus.
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Esophageal manometry tracing demonstrates diffuse esophageal spasm. Note the multiple uncoordinated contractions in the third tracing from the distal esophagus.
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Esophageal manometry tracing demonstrates nutcracker esophagus. Note the excessive amplitude of the contractions.
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High-resolution manometric display of a normal esophageal swallow using esophageal pressure topography. Image courtesy of Wikimedia Commons.
