Esophageal Motility Disorders and Diagnosis

Clinical Picture

Classic symptoms of esophageal motility disorders include chest pain (80%–90% of patients), dysphagia (30%), and heartburn (20%). Dysphagia of liquids and solids indicates a functional disorder of the esophagus; dysphagia of solids alone indicates a physical lesion. Very hot or cold liquids and stress may exacerbate dysphagia. The pain is usually retrosternal and frequently radiates to the back. Patients describe a pain more severe than angina that is intermittent and variable from day to day. It may last from minutes to hours. Usually a disparity exists between symptoms and manometric findings, and the chest pain may be unrelated to the dysmotility. Anxiety and depression are common in these patients. Stress, loud noises, and ergonovine maleate may stimulate muscular contractions. The cause may be a sensory abnormality, and psychiatric illness may alter patients’ sensory perceptions.

Patients with EGJOO have dysphagia (71%) and chest pain (49%). Other common symptoms are regurgitation (75%) and heartburn (71%). Patients with absent contractility complain of dysphagia to liquids and solids. Patients with a low LES pressure and aperistalsis have severe GERD and its complications.

Patients with DES complain of chest pain and dysphagia. The pain may be associated with eating quickly or drinking hot, cold, or carbonated beverages. Anxiety is common. Patients with jackhammer esophagus or NE usually present with chest pain; dysphagia is present in only 10%. There is a 30% incidence of associated psychiatric disorders.

Patients with IEM present with typical symptoms of heartburn and reflux and rarely have nonobstructive dysphagia with impaired bolus transit through the esophagus. Patients with fragmented peristalsis are likely to complain of coughing and have reflux symptoms due to hypomotility and poor acid clearance.

Diagnosis

Several tests may be helpful with the diagnosis of motility disorders. Barium esophagraphy may detect nonpropulsive contractions with segmentation, which are diagnostic for “corkscrew” esophagus or DES. NE and other spastic disorders may present with minimal findings. Endoscopy is not diagnostic but should be performed to exclude malignancy or associated disorders such as hiatal hernia, reflux esophagitis, and strictures. Degeneration of esophageal vagal branches may be seen on biopsy in DES.

Of patients with GERD and respiratory symptoms, 30% to 50% have IEM, and 75% of IEM patients and 25% of EGJOO patients have an abnormal DeMeester score on 24-hour pH monitoring. In DES patients, computed tomography (CT) has been found to be sensitive in detecting esophageal wall thickening in the distal 5 cm of the esophagus; thus CT shows promise as a diagnostic test.

In the past most esophageal motility disorders have been diagnostically nonspecific.

Manometry is the definitive test for evaluating esophageal motility disorders, but symptoms correlate poorly with findings. Traditionally classic manometry has been used. HRM with EPT differs from traditional manometry; it has 36 sensors, each 1 cm apart, compared with 3 to 5 cm apart in traditional manometry ( Fig. 13.2 ). Indications for usage, transnasal placement, and the number of swallows needed are the same, but HRM is more tolerable as only one placement of the catheter is needed. In HRM, sensors are located longitudinally and radially and pressure values between the sensors are extrapolated by software to create a complete pressure continuum, which is converted into a color three-dimensional graph. The red color tones indicate high pressures and blue color tones indicate low pressures. A topographic plot combining both the anatomy and physiology of the esophagus is developed from the data. The graph plots time and location on one axis and pressure as color on the other axis, creating an isobaric contour (IBC) map. The map demonstrates physiologic changes in the variables of space, contraction, and velocity, tracking the movement along the esophageal anatomy.

HRM and EPT both define esophageal motor function but EPT is more sensitive in determining peristalsis and LES function. EPT plots demonstrate the anatomy, physiology, and pathophysiology of the esophagus. The UES, LES, and passage through the crura are indicated by sudden increases in pressure along the EPT map, indicating tightness in the esophageal lumen. The LES is categorized as a type I at the LES, type II slightly separate, and type III, complete separation defined only by a respiratory inversion point (RIP).

Esophageal peristalsis comprises three contractile segments. The first is the UES, second the tubular esophagus in two places, and third the LES. There is a transition zone, a pressure trough between the first and second zones of the esophagus, where control of peristalsis shifts from the central nervous system to the enteric nervous system (myenteric plexus).

The contractile deceleration point (CDP) is measured on EPT by the slope of the IBC at 30 mm Hg. In the esophagus, conduction occurs faster proximally, correlating with the presence of a transient phrenic ampulla distally, which stretches, then the LES valve is elevated and is responsible for the slower emptying. The CDP is located within 3 cm of the upper aspect of the LES. Integrated relaxation pressure (IRP) measures the ability of the LES to relax. Manometry cannot differentiate between LES abnormalities of stenosis versus compression, which can cause outflow obstruction. The e-sleeve is a 10-second period, averaging 10 to 20 mm Hg at the LES, which includes crural contraction pressures. The IRP is the average pressure measured during the 4 seconds when the e-sleeve value is lowest. Distal latency (DL)—median 6.2 seconds and minimum of 4.6 seconds—measures the time at the end of a swallow between UES relaxation and the CDP.

The distal contractile integral (DCI) combines distal esophageal length, time of contraction, and mean amplitude of contraction. DCI measures the distance from the proximal to the distal pressure troughs excluding the first 20 mm Hg. According to the CC, contractile vigor relies on the DCI. Lower than 100 mm Hg/s/cm indicates failed peristalsis, whereas between 100 and 450 mm Hg/s/cm indicates weak peristalsis; however, both are ineffective. Normal is between 450 and 8000 mm Hg/s/cm, whereas hypercontractility is defined as above 8000 mm Hg/s/cm. Fragmented peristalsis is defined as a large break (>5 cm) in the 20 mm Hg IBC and is commonly found in patients with dysphagia. A premature contraction has a DL less than 4.5 seconds and a DCI greater than 450 mm Hg/s/cm.

Esophageal contraction and pressurization differ in that a contraction must squeeze the muscle and close the lumen whereas pressurization occurs with the UES, LES, and esophageal lumen all open. Pressurization is visualized on EPT with vertical lines indicating increased pressure obstructed at both ends by a greater pressure. Pressure along the entire length of the esophagus is termed panesophageal pressurization and is diagnostic of type II achalasia. Compartmentalized pressurization can be found in postsurgical patients after a fundoplication surgery, hiatal hernia repair, or bariatric surgery.

The CC, version 3.0, enables the diagnosis of dysmotility disorders using EPT. The prevalence of esophageal dysmotility disorders is 5% of the general population. HRM has been used to characterize EPT findings in motility disorders. (Achalasia is explained further on.) EGJOO is defined by HRM as having a median IRP above the upper limit of normal with evidence of weak peristalsis, not meeting the threshold of severity of achalasia. The treatment for both may be similar. Initial therapy is botulinum toxin (Botox) injection and dilation, reserving surgical myotomy or peroral endoscopic myotomy (POEM) for cases where less invasive treatments have failed.

The first of the major motility disorders, absent contractility, occurs with a normal average IRP and 100% failed peristalsis. Distal esophageal spasm (DES) is defined as a normal median IRP with greater than 20% percent premature contractions and a DL less than 4.5 seconds. HRM has defined DES more accurately than traditional manometry. Diagnostically, DL is specific for DES. When DL is reduced, which is rarely found, symptoms of dysphagia or chest pain are almost always present and are consistent with either DES or type III achalasia. Hypercontractile (jackhammer) esophagus was previously called NE with diagnosis by traditional manometry. It is defined as two swallows or more with a DCI greater than 8000 mm Hg/s/cmin conjunction with single-peaked or multipeaked contraction. When hypercontractile esophagus is present with EGJ outflow obstruction, the motility resolves when the obstruction is corrected.

The minor disorders of peristalsis include IEM and fragmented peristalsis. IEM is defined by an average IRP less than 15 mm Hg and ≥50% ineffective swallows. IEM is associated with GERD. Nontransmitted contractions are present and ineffective at propelling food through a normal LES. Promotility drugs are recommended for IEM, but there is little evidence that they resolve symptoms. Fragmented peristalsis is defined as an average IRP less than 15 mm Hg with a normal DL, ≥50% fragmented contractions, and a DCI above 450 mm Hg/s/cm. Large breaks, defined as greater than 5 cm in the 20 mm Hg IBC, are significantly more common in patients complaining of dysphagia. The evidence of normal DL, or contraction vigor, distinguishes “fragmented peristalsis” from IEM.