eMedicine Specialties > Gastroenterology > Esophagus

Esophageal Motility Disorders: Differential Diagnoses & Workup

Author: Eric A Gaumnitz, MD, Professor of Medicine, Division of Gastroenterology, University of Wisconsin School of Medicine; Program Director, Gastroenterology and Hepatology Fellowship, University of Wisconsin School of Medicine and Public Health; Director, Motility Unit, University of Wisconsin Hospitals
Coauthor(s): Abdullah Fayyad, MD, MBBS, Gastroenterology Staff, Private Practice, Digestive and Liver Disease Consultants
Contributor Information and Disclosures

Updated: Aug 29, 2009

Differential Diagnoses

Angina Pectoris
Chagas Disease (American Trypanosomiasis)

Other Problems to Be Considered

As with all reported symptoms, the differential diagnosis depends on presenting symptoms.

With complaints of chest pain, coronary artery disease is the major concern and should be evaluated prior to an esophageal workup for esophageal motility disorders. Prolonged, nonexertional chest pain that is meal-related and relieved with antacids favors an esophageal etiology for chest pain. Heartburn and regurgitation further suggest esophageal etiology of chest pain with a component of reflux disease, whether it is related to esophageal dysmotility or complicating scleroderma.

In patients with dysphagia, mechanical obstructing lesions, benign or malignant, must be ruled out with esophageal endoscopic or radiographic imaging studies.

When considering a diagnosis of achalasia, the differential diagnosis includes Chagas disease secondary to Trypanosoma cruzi infection and pseudoachalasia from gastroesophageal junction tumors. An early form of achalasia, known as vigorous achalasia, can be confused with diffuse esophageal spasm.

Chagas disease

Chagas disease is an infectious disease with esophageal functioning that mimics achalasia. This condition is caused by the protozoan T cruzi, which is transmitted by a reduviid (kissing) bug bite. Chagas disease is endemic in South and Central America but has been discovered as far north as Texas. The initial manifestation is septicemia, ranging from clinically silent to life threatening; a chronic stage may then ensue. Pathophysiology reveals widespread ganglionic destruction throughout the body, involving the heart, gut, urinary tract, and respiratory tract. Clinically significant disease takes years to develop.

The most common cause of death is cardiac involvement with cardiomyopathy, conduction disturbances, and arrhythmias. Gastrointestinal tract involvement includes megaesophagus, megacolon, and megaduodenum. Esophageal involvement starts with atonic esophageal body and a nonrelaxing LES, subsequently leading to esophageal dilation. The diagnosis is confirmed by serologic testing.

Treatment of patients with esophageal Chagas disease is similar to the treatment of patients with idiopathic achalasia. Treatment is geared toward disrupting the LES. Once esophageal nerve loss has occurred, regrowth or replacement of this nerve loss is not possible. For patients with acute infection, treatment with nifurtimox and benznidazole has shown limited efficacy and has no proven efficacy in patients with chronic infection.

Familial adrenal insufficiency with alacrima

Familial adrenal insufficiency with alacrima is an autosomal recessive childhood disease with autonomic nervous system dysfunction. This condition progresses to a picture of achalasia, alacrima, sinoatrial dysfunction, and delayed gastric emptying.

Pseudoachalasia

Pseudoachalasia is a term used to describe the clinical picture of gastroesophageal junction obstruction, most classically by tumor. This condition is present in as many as 5% of patients with the manometric and radiologic diagnosis of achalasia. This clinical presentation is more likely to occur with rapidly progressive disease ( <1 y), older age of onset (>50 y), and profound weight loss. Tumor infiltration, especially involving the gastric fundus, mimics the functional impairment observed with idiopathic achalasia.

A thorough workup for achalasia includes an upper endoscopy. Biopsies should be obtained with any suspicion of a malignant process. If a suspicious lesion is found, imaging studies, including CT scan, MRI, and endoscopic ultrasound, should be obtained as indicated. In 50% of patients, the pathology is adenocarcinoma of the gastroesophageal junction. Other causes for pseudoachalasia include other malignancies, mechanical obstruction (eg, neurofibromatosis, pancreatic pseudocyst), and infiltrative diseases (eg, amyloidosis, sphingolipids, eosinophilic gastritis, sarcoidosis).

Diffuse esophageal spasm

DES and vigorous achalasia can be confused, as both have the common feature of active, higher amplitude simultaneous contractions of the esophagus. Manometric criteria require that some normal esophageal peristalsis must be present intermittently for DES. In addition, LES relaxation, which commonly is incomplete in patients with achalasia, should be normal in patients with DES. This issue is further complicated in that DES may evolve into achalasia with time, so a continuum with progression to aperistalsis is likely.

Workup

Imaging Studies

• Chest radiograph is not required to establish the diagnosis.
  • In patients with long-standing achalasia, the esophagus dilates and exhibits a sigmoid appearance.
  • An air-fluid level, a widened mediastinum, and the absence of a gastric air bubble often are observed.
  • Patients with spastic esophageal motility disorders show no abnormalities on chest radiographs.
• Esophagram
  • Advanced achalasia produces a dilated intrathoracic esophagus with an air-fluid level. The classic sign is a tapering of the LES, creating the characteristic "bird-beak" appearance. Early achalasia would reveal a normal anatomical esophagus with loss of peristalsis and transient stasis just above the GEJ.
  • Occasionally, epiphrenic diverticula are noted immediately above the LES.
  • Hiatal hernia reportedly is observed in 10-20% of patients with achalasia.
  • In patients with DES, the classic esophagram findings are of a "corkscrew" or "rosary bead" esophagus. Pseudodiverticula and curling also suggest DES.
  • In patients with scleroderma esophagus, the esophagram shows a slightly dilated esophagus, weak or absent peristalsis, and free reflux often is demonstrated.

Other Tests

• Manometry: Esophageal manometry evaluates esophageal motor pattern, contraction amplitude, and LES pressure and function.^2,3 The manometric criteria for diagnosis of the primary esophageal motility disorders are as follows:
  

  

  Normal manometry results show normal esophageal body peristalsis with normal lower esophageal sphincter (LES) pressure and relaxation. The LES pressure tracing is at the level of the sleeve (tracing 6).

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  Normal manometry results show normal esophageal body peristalsis with normal lower esophageal sphincter (LES) pressure and relaxation. The LES pressure tracing is at the level of the sleeve (tracing 6).

  
  

  

  Achalasia manometry picture Note the nonrelaxing lower esophageal sphincter (LES) and the absence of esophageal body peristalsis. The LES pressure tracing is at the level of the sleeve (tracing 6).

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  Achalasia manometry picture Note the nonrelaxing lower esophageal sphincter (LES) and the absence of esophageal body peristalsis. The LES pressure tracing is at the level of the sleeve (tracing 6).

  
  

  

  Manometry demonstrates diffuse esophageal spasm with simultaneous contractions of the esophagus observed throughout the tracing. The lower esophageal sphincter (LES) pressure tracing is at the level of the sleeve (tracing 6).

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  Manometry demonstrates diffuse esophageal spasm with simultaneous contractions of the esophagus observed throughout the tracing. The lower esophageal sphincter (LES) pressure tracing is at the level of the sleeve (tracing 6).

  • Achalasia: In patients with achalasia, aperistalsis of the esophageal body and incomplete relaxation of the LES are the manometric hallmark of this disease. Using these criteria, diagnosis can be achieved in more than 90% of patients. In the remaining 10%, the manometry is nondiagnostic, which probably is related to inability to position the catheter across the LES due to extensive esophageal dilation and tortuosity.
  • LES may have a hypertensive resting pressure (>45 mm Hg), although LES pressures can also be normal but not low (<10 mm Hg). Incomplete relaxation of the LES to the gastric baseline is found in more than 80% of patients, with the remainder of LES abnormalities characterized by only a brief, but complete, LES relaxation. Low-amplitude simultaneous contractions (10-40 mm Hg) or isolated tertiary contractions may be observed. Alternatively, simultaneous repetitive contractions characterized by high amplitude (>60 mm Hg) are observed in patients with vigorous achalasia.
  • Spastic esophageal motility disorders: Each of the esophageal spastic motility disorders has certain manometric findings that are either diagnostic or associated.
    • DES is characterized by the findings of simultaneous contractions greater than 30% of water swallows, with the presence of normal peristalsis.⁴ Other associated manometric findings may include repetitive contractions (>2 peaks), prolonged contractions (>6 s), high-amplitude contractions (>180 mm Hg), spontaneous contractions, incomplete LES relaxation, and increased LES pressure (>40 mm Hg).
    • Nutcracker esophagus: These manometric abnormalities are the most common of the spastic motility disorders. The characteristic criterion is normal-patterned peristalsis with high-amplitude contractions greater than 180 mm Hg (2 standard deviations above the normal mean). The manometric findings associated with this condition may include repetitive contractions (>2 peaks), prolonged contractions (>6 s), and increased LES pressure (>40 mm Hg).
    • Hypertensive LES: This is characterized by increased LES pressure of greater than 40 mm Hg that otherwise relaxes normally. Esophageal peristalsis is normal. Of note, elevated LES pressures may also be seen in patients with achalasia, nonspecific motility disorders, nutcracker esophagus, and DES; however, they are characterized by abnormal esophageal body motility. The significance of hypertensive LES is questionable.
    • Nonspecific esophageal motor disorders: When peristaltic abnormalities are insufficient to establish one of the other motility disorders, the disorder is labeled as a nonspecific esophageal motor disorder (NEMD). Establishing a direct relation to symptoms is extremely difficult. This condition may include the following: nontransmitted waves (>20%), retrograde contractions, repetitive contractions (>2 peaks), low-amplitude contractions (<30 mm Hg) or failed peristalsis (also referred to as inefficient esophageal motility [IEM]), isolated prolonged contractions (>6 s) or high-amplitude contractions (>180 mm Hg), spontaneous contractions, and incomplete LES relaxation. These nonspecific findings are not generally correlated to any symptoms.
• Ambulatory esophageal manometry: This new technique is capable of recording esophageal pressures for longer intervals and is a trial to capture motility disorders and to correlate their manometric findings with symptoms. No consensus exists regarding the interpretation or utility of this test, so it remains an investigational tool.
• High-resolution manometry: In recent years, high-resolution manometry has been introduced, which may provide improved identification of esophageal disease, such as motility disorders, hiatal hernia, and outflow obstruction, as well as provide ease of interpretation compared with conventional manometry. Salvador et al assessed high-resolution manometry (36-channel catheter, 1-cm sensor intervals) studies in 106 patients and 50 healthy controls and classified findings into abnormalities of the gastroesophageal barrier and of the esophageal body.² The findings were validated with endoscopic and radiographic comparisons.The investigators demonstrated a significantly lower mean time for high-resolution manometry (8.1 mins) compared with a conventional method (24.4 mins; P < 0.0001).²  The presence of a lower esophageal sphincter defect by high-resolution manometry was validated in 86.3% (44/51) of patients via radiography/endoscopy, and 80% (41/51) of patients had a positive pH study, endoscopic erosive esophagitis, or Barrett esophagus.²

Procedures

• Endoscopy
  • Endoscopy is a crucial imaging tool used to exclude mechanical and inflammatory lesions that are causing dysmotility symptoms. When considering achalasia, endoscopic evaluation is critical in looking for a structural cause for obstruction.
  • Endoscopy is insensitive in determining primary motility abnormalities of the esophagus. In patients with advanced disease, the esophagus becomes atonic, dilated, and tortuous, which may be appreciated endoscopically.
  • In patients with achalasia, mucosal changes due to chronic irritation and food stagnation include erythema, friable mucosa, ulceration, and candidal infection. The LES is closed tightly and does not open with air insufflation, but the endoscope can pass into the stomach with gentle mechanical pressure. Conversely, a feeling of resistance or stiffness at the gastroesophageal junction suggests another diagnosis (eg, malignancy, stricture). If resistance is felt or mucosal changes are noted, biopsies should be obtained.
• Endoscopic ultrasound: Endoscopic ultrasound still is investigational in managing achalasia, although it has been used to work up tumors or infiltrative diseases of pseudoachalasia as well as to assist in botulinum toxin injection. Current studies are assessing the role of endoscopic ultrasound in defining motor corollaries to the various esophageal motility disorders.

Histologic Findings

Endoscopic biopsy results of the mucosa and submucosa are generally normal. The depth of a standard endoscopic biopsy is not usually deep enough to reach the myenteric nerves. Histologic findings from surgical and necropsy examinations of the smooth muscle esophagus in patients with achalasia shows fewer ganglion cells with a mononuclear inflammatory infiltrate. Circular muscle of the LES is thickened, but, microscopically, muscle cells are normal.

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