Gastroenterology and Hepatology Board Review: Pearls of Wisdom, Third Edition

Section II ESOPHAGUS

CHAPTER 10. Esophageal Motility Disorders

Michael D. Crowell, PhD, FACG, AGAF and Brian E. Lacy, PhD, MD

Image True/False: Dysphagia is the most common upper gastrointestinal symptom in the elderly.

True. Dysphagia is present in 16% of the elderly population living in the community and swallowing dysfunction is present in as much as 50% of residents living in nursing homes.

Image What is presbyesophagus?

This is a benign condition seen in the elderly. There is usually a weakening of primary peristalsis and some contractions may not be transmitted (nonperistaltic). Patients are generally asymptomatic and this is most commonly identified on an upper gastrointestinal series or barium swallow performed for other reasons.

Image A 46-year-old man develops solid food dysphagia 2 months following laparoscopic Nissen fundoplication. What is the most appropriate initial investigation?

Barium esophagography with a solid food (barium-soaked bagel or marshmallow) or barium pill (13 mm) challenge is the best initial study. If this study does not show evidence of obstruction, a “slipped” Nissen or an overly tight Nissen, then endoscopy and manometry may be required.

Image A 48-year-old woman with severe reflux symptoms is being considered for laparoscopic fundoplication. She is found to have facial telangiectasias and Raynaud’s phenomenon. What further investigation(s) would be absolutely essential prior to surgery?

Esophageal manometry. A diagnosis of scleroderma is a contraindication to a 360° fundoplication.

Image What is the prevalence of esophageal dysmotility in systemic sclerosis (scleroderma)?

As many as 70% of patients with scleroderma will have involvement of the esophagus.

Image What two major manometric abnormalities seen in systemic sclerosis are shown in the figure?

Image

Figure 10-1 See also color plate.

Diminished lower esophageal sphincter (LES) tone (hypotensive LES) and decreased or absent contraction wave amplitude in the smooth muscle portion of the esophagus. Proximal esophageal peristalsis remains normal.

Image Why do patients with scleroderma develop dysphagia?

Dysphagia usually occurs as a result of poor bolus transit due to weak peristalsis; however, it can also be due to a stricture resulting from severe reflux that occurs in many of these patients secondary to very low LES resting pressure and poor esophageal acid clearance.

Image What are two common radiological signs seen in scleroderma patients with esophageal involvement?

Moderately dilated aperistaltic distal esophagus and free reflux. Peptic strictures may be seen in as much as 30% of patients.

Image True/False: The distal esophagus is affected in dermatomyositis and polymyositis.

False. The wall of the proximal one-third of the esophagus is composed of striated muscle, whereas the distal two-thirds consist of smooth muscle. The proximal one-third can be affected by any condition affecting striated muscle function, such as dermatomyositis and polymyositis.

Image True/False: Diffuse esophageal spasm is the most common abnormality observed during esophageal manometry in patients with noncardiac chest pain.

False. Esophageal motor disorders are an uncommon cause of noncardiac chest pain, and manometry is usually normal in these patients. Early studies reported that hypertensive peristalsis (nutcracker esophagus) was the most common manometric abnormality found in patients with noncardiac chest pain, but later studies have not demonstrated a clinical correlation between pain events and hypertensive peristalsis. The most common esophageal causes of noncardiac chest pain appear to be gastroesophageal reflux disease (GERD) and visceral hypersensitivity.

Image What esophageal motility abnormality is commonly seen in gastroesophageal reflux disease?

Ineffective esophageal motility (IEM) or hypocontracting esophagus is a common esophageal motility abnormality; however, most people with GERD will have a normal esophageal manometry.

Image What are the manometric diagnostic criteria for IEM?

Mean distal esophageal peristaltic wave amplitude less than 30 mmHg, or failed peristalsis in which the peristaltic wave does not traverse the entire length of the distal esophagus or simultaneous contractions with amplitudes less than 30 mmHg on at least 30% of wet swallows.

Image True/False: A decreased frequency of transient lower esophageal sphincter relaxations (tLESR) is the primary pathophysiologic abnormality associated with GERD.

False. An increase in tLESR frequency is the primary pathogenic mechanism in mild-to-moderate GERD. tLESR can only be detected during prolonged studies using a manometry catheter incorporating a sleeve sensor or during high-resolution esophageal manometry using an eSleeve.

Image A 76-year-old woman with progressive solid and liquid dysphagia is found to have an absence of lower esophageal relaxation and esophageal peristalsis on manometry and a bird beak deformity of the gastroesophageal junction on barium swallow. Other than achalasia, what condition should be considered in the differential diagnosis?

Pseudoachalasia. This condition has similar symptoms and manometric findings to achalasia; however, the underlying cause is typically a malignancy. Carcinoma-induced achalasia is responsible for 3% of all cases of achalasia and up to 9% in patients older than 60 years.

Image What symptoms besides dysphagia and regurgitation occur commonly in patients with achalasia?

Chest pain and weight loss are reported in as many as 50% of patients.

Image What is the frequency of pulmonary complications in achalasia?

As many as 10% of patients with achalasia will present with bronchopulmonary complications including aspiration pneumonia.

Image What is the most common cancer associated with achalasia (pseudoachalasia)?

Adenocarcinoma of the gastroesophageal junction accounts for more than 50% of cases of pseudoachalasia.

Image What infectious disease can mimic achalasia?

Chagas disease can produce a clinical picture identical to classical achalasia. Usually other tubular organs are also involved in Chagas disease. The presence of antibodies to Trypanosoma cruzii is diagnostic. Treatment is identical to the idiopathic form of achalasia.

Image What is the most effective therapeutic option for achalasia?

The best outcomes have been reported following Heller myotomy (80%–90% long-term success). Alternative approaches include pneumatic dilation (60%–90% long-term success) and botulinum toxin injection (60%–70% short-term success), both of which often require multiple treatments. The median duration of therapeutic response after botulinum toxin injection is approximately 10 months.

Image A 50-year-old man has classical achalasia. He is considering either pneumatic dilation or laparoscopic Heller myotomy. He would rather not have surgery and would like to know the risks associated with pneumatic dilation. Describe the risks.

Esophageal perforation is the main complication associated with pneumatic dilation. It occurs in 2%–5% of cases. There are no absolute risk factors associated with an increased occurrence of perforation.

Image When is an ambulatory esophageal pH study indicated in a patient with noncardiac chest pain?

Recent guidelines suggest that an ambulatory esophageal pH study is only indicated in patients who have not responded to a trial of a proton pump inhibitor (PPI). In patients with a low pretest probability of having acid reflux as the cause of their symptoms, pH monitoring should be performed off PPI therapy. In patients with a moderate to high probability of having acid reflux as the cause of their symptoms, those not responding to acid inhibition should undergo pH testing while on acid suppression in order to document the persistence of acid reflux and its association with symptoms.

Image True/False: Recent studies have reported improved diagnostic yield with combined esophageal pH and impedance monitoring compared with conventional esophageal pH monitoring alone in patients studied while on acid suppression.

True.

Image Esophageal propulsion of swallowed food involves coordinated peristaltic activity within the longitudinal and circular muscle layers. What structure must relax in synchrony with the peristaltic wave to allow passage of the food bolus?

Relaxation of the LES is coordinated with the peristaltic activity in the esophageal body through a vagally mediated reflex pathway.

Image What are the two key manometric features of achalasia?

1. Incomplete LES relaxation with swallowing.

2. Aperistalsis of the esophageal body.

Image What other manometric findings may be present in patients with achalasia?

• Low amplitude, mirror image simultaneous contractions.

• High amplitude esophageal contractions, which are usually not mirror image (vigorous achalasia).

• Increased tone of the LES (present in about 60% of cases).

• Resting intraesophageal pressure greater than intragastric pressure.

Image A 73-year-old woman with Parkinson’s disease develops liquid dysphagia with frequent coughing and choking. What is the most appropriate initial test?

A videoesophagram is the best test for the initial investigation of suspected oropharyngeal dysphagia.

Image Describe typical symptoms of oropharyngeal dysphagia.

Coughing, choking, gagging, or nasal regurgitation with the ingestion of a liquid swallow.

Image A 23-year-old man presents with odynophagia of 3-month duration. How would you investigate this?

Odynophagia typically is associated with mucosal damage. An endoscopy would be the best initial investigation. GERD, esophageal candidiasis, and viral infections (eg, HSV and CMV) are the most common causes of odynophagia in this age group. Pill esophagitis may also present with symptoms of odynophagia, but rarely would it be this long in duration.

Image A 40-year-old woman complains of a constant feeling of a lump in her throat. What is the likely diagnosis?

The patient is describing globus sensation. It is differentiated from oropharyngeal dysphagia by being present continuously regardless of whether the patient is swallowing or not. The etiology of this condition is controversial. Gastroesophageal reflux, hypertensive upper esophageal sphincter, incomplete upper esophageal sphincter (UES) relaxation, and anxiety have all been suggested as possible causes. Treatment options include reassurance, education, antisecretory medications, and/or anxiolytics.

Image Based on conventional esophageal manometry, what are typical manometric features of diffuse esophageal spasm?

Simultaneous esophageal contractions occurring in more than 30% (controversial) of 5 mL water bolus swallows and repetitive or prolonged (> 6 seconds) contractions, which are frequently of high (> 180 mmHg) amplitude. The more abnormalities present, the more specific the diagnosis.

Image A patient with severe GERD is being considered for laparoscopic fundoplication. What is the most important test to be performed to rule out gastrointestinal contraindications to the procedure?

Esophageal manometry—to confirm good esophageal peristaltic activity and to rule out scleroderma. While controversial, very weak esophageal peristalsis may be a predictor of postoperative dysphagia.

Image A 59-year-old man is referred for esophageal manometry because of chest pain and solid food dysphagia. He is found to have a high resting LES tone (45 mmHg) but 90% relaxation of the LES with deglutition and normal peristaltic activity in the body of the esophagus. What is the diagnosis?

Hypertensive LES. The clinical significance of this finding is unclear.

Image In patients with a hypertensive LES, what is often seen on barium swallow?

A lower esophageal muscular ring at the level of the cephalad part of the LES. This is also referred to as a Schatzki’s A ring.

Image How are a hypertensive LES and its accompanying muscular ring treated?

Esophageal dilatation with a large (17–20 mm) bougie is temporarily effective. Alternatively, botulinum toxin injection has been reported to be effective in some patients.

Image A 50-year-old man is referred from cardiology for the evaluation of noncardiac chest pain. He only gets chest pain when swallowing crusty bread and baked potatoes. He has no associated dysphagia and has had a normal barium esophagram recently. A representative figure from his esophageal manometry is shown. All 10 water swallows are peristaltic but the mean amplitude of contraction in the distal esophagus is 287 mmHg. What is the diagnosis?

Image

Figure 10-2 See also color plate.

Nutcracker esophagus. Nutcracker esophagus is a finding of unclear clinical relevance that is characterized by hypertensive (> 180 mmHg) esophageal contractions with normal peristalsis and LES function. Peristaltic contractions of long duration (> 6 seconds) are commonly found although they are not required for the diagnosis. This is a benign condition and of unlikely pathogenic importance in noncardiac chest pain.

Image An elderly smoker develops progressive solid food dysphagia over a month and a 10-pound weight loss. What is your initial investigation?

Endoscopy. Progressive solid dysphagia in an older patient raises concern for an obstructive neoplasm. Alternatively, a barium esophagram could be done but would not provide the opportunity for tissue biopsy and dilatation.

Image A 35-year-old woman complains of severe heartburn that has not responded to multiple trials of twice-daily PPI therapy. Two separate endoscopies have been normal. What diagnostic test would be most useful at this point?

Ambulatory esophageal pH testing (with or without impedance testing). In this situation, 48-hour wireless ambulatory pH monitoring or 24-hour pH monitoring off PPI therapy will determine whether she has significant acid reflux. If the pretest probability of having abnormal acid reflux is high, then ambulatory 48-hour esophageal pH monitoring or 24-hour monitoring with or without esophageal impedance while continuing to take the PPI would be the best test in order to determine whether her symptoms are associated with acid reflux and if the drug has successfully suppressed acid secretion. The addition of esophageal impedance to the 24-hour pH-metry may help to assess symptom association with weakly acidic or nonacidic reflux events while on PPI therapy.

Image An 83-year-old man is referred because of regurgitation of undigested food, recurrent aspiration pneumonia, and chronic halitosis. He admits to frequent choking while eating, to a sense of difficulty initiating swallows and to food getting stuck in his throat. A barium swallow shows a large pharyngoesophageal diverticulum. What is the diagnosis?

Zenker’s diverticulum.

Image How is Zenker’s diverticulum formed?

Zenker’s diverticula are pulsion diverticula formed in the hypopharyngeal region (above the cricopharyngeus muscle) by high intraswallowing pressures resulting from a poorly compliant upper esophageal sphincter.

Image What is the effect of a hiatus hernia on LES tone?

None. LES tone is related to the myogenic and neurogenic properties of the sphincter, not its location relative to the diaphragmatic hiatus. However, competence of the antireflux barrier at the LES is, in part, maintained by contraction of the diaphragm.

Image What location of a cerebrovascular accident most commonly results in swallowing difficulties?

Brainstem. Dysphagia is much less common with cortical strokes. Fortunately, most dysphagia improves following a cerebrovascular accident.

Image What is the mechanism of dysphagia in amyotrophic lateral sclerosis (ALS)?

ALS is characterized by motor neuron degeneration. Dysphagia is common in the later phases of the disease. The tongue is first involved followed by the pharynx and the larynx. Aspiration is common. Patients usually eventually require placement of a gastrostomy tube to maintain nutrition.

Image What is the main manometric abnormality seen in Parkinson’s patients with dysphagia?

Diminished pharyngeal propulsive forces are almost always present. Incomplete upper esophageal relaxation is seen in 21% of dysphagic Parkinson’s patients.

Image A 47-year-old man with ptosis develops progressive dysphagia and aspiration. What is the most likely diagnosis?

Oculopharyngeal muscular dystrophy, a syndrome characterized by progressive dysphagia and palpebral ptosis. This type of muscular dystrophy is linked to chromosome 14 abnormalities and is more common, but not limited to, patients of French–Canadian lineage. Failure of pharyngeal motility leads to aspiration. Myasthenia gravis may also cause similar symptoms.

Image What is the clinical utility of esophageal manometry?

The clinical usefulness of a test is commonly referred to as its utility. This is determined by asking how frequently the test makes a new diagnosis, changes the diagnosis, or changes patient management. Esophageal manometry has been shown to be clinically useful for patients with dysphagia and chest pain. It does not have much value in the routine gastroesophageal reflux patient other than to help accurately place a wireless pH capsule or a pH probe.

Image What are the Chicago criteria for esophageal motor disorders?

The Chicago criteria are a list of standards and definitions used to define manometric findings using high-resolution esophageal manometry (HREM).

Image What is a key difference between the performance of conventional esophageal manometry and HREM?

A conventional (solid state or water perfused) esophageal manometry catheter typically has between four and eight recording transducers that are spaced 3–5 cm apart (depending on how it is built). The distal transducer is circumferential, meaning that it measures a 360° view. The other transducers are radial in nature, and measure a smaller view (less than 360°). Using a station pull-through technique, the combination of radial transducers and the circumferential transducer can provide an accurate assessment of LES length, LES resting pressure, LES relaxation with water swallows, and motility (waveform and amplitude) in the body of the esophagus. However, the catheter has to be positioned several times in order to extract all of this information. The HREM catheter has 36 circumferential transducers spaced 1 cm apart. Once passed transnasally, accurate measurements of the LES, UES, and esophageal body can be easily obtained without having to move the catheter.

Image Based on HREM, three subtypes of achalasia have been proposed. Representative tracings are presented below. Name the three subtypes of achalasia and their primary characteristics?

Image

Figure 10-3 See also color plate.

Type I (classic) achalasia is defined by no distal esophageal pressurization > 30 mmHg in 8 or more of the 10 test swallows.

Image

Figure 10-4 See also color plate.

Type II (esophageal pressurization) achalasia is defined by rapidly propagated compartmentalized pressurization that is localized to distal esophagus or includes the entire length of the esophagus with at least 2 of the 10 test swallows associated with panesophageal pressurization to > 30 mmHg.

Image

Figure 10-5 See also color plate.

Type III (spastic) achalasia is defined by rapidly propagated or simultaneous pressurization attributable to spastic contractions in at least 2 of the 10 test swallows.

• • • SUGGESTED READINGS • • •

Pandolfino JE, Fox MR, Bredenoord AJ, Kahrilas PJ. High-resolution manometry in clinical practice: utilizing pressure topography to classify oesophageal motility abnormalities. Neurogastroenterol Motil. 2009;21(8):796-806.

Hirano I, Richter JE; Practice Parameters Committee of the American College of Gastroenterology. ACG practice guidelines: esophageal reflux testing. Am J Gastroenterol. 2007;102(3):668-685.

Pandolfino JE, Kwiatek MA, Nealis T, et al. Achalasia: a new clinically relevant classification by high-resolution manometry. Gastroenterology. 2008;135(5):1526-1533.

Kahrilas PJ, Sifrim D. High-resolution manometry and impedance-pH/manometry: valuable tools in clinical and investigational esophagology. Gastroenterology. 2008 Sep;135(3):756-769. Epub 2008 Jul 17. Review.

Kahrilas PJ, Shaheen NJ, Vaezi MF, et al. American Gastroenterological Association. AGA Medical Position Statement on the management of gastroesophageal reflux disease. Gastroenterology. 2008;135(4):1383-1391.