Gastroenterology Hepatology

Esophageal motility disorders other than achalasia

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How can I be sure that the patient has esophageal motility disorders?

Signs and symptoms

Esophageal motility disorders are by-products of abnormal contractile activity that lead to symptoms of dysphagia, chest pain, gastroesophageal reflux disease (GERD) symptoms (heartburn/regurgitation), aspiration, and/or malnutrion. They result from a delicate interplay of the inhibitory and excitatory influences in the neuromuscular control of the esophagus. Imbalance between these forces may 1) increase the contractile vigor, 2) result in a rapid premature contraction, or 3) lead to impaired effectiveness of peristalsis through a reduction in contractile vigor.

Usual constellation of clinical features

Patients will present with continued symptoms of dysphagia or chest pain/discomfort in the context of a negative endoscopy to rule out mechanical obstruction and esophagitis [reflux, eosinophilic, caustic, infectious]. Some patients may have evidence of dehydration and malnutrition due to a decrease in oral intake.

A tabular or chart listing of features and signs and symptoms

Pathognomonic or characteristic features

The pathognomonic features in terms of clinical presentation are usually focused on a distinction between solid food dysphagia and liquid dysphagia. Classically, mechanical obstruction presents with predominantly solid food dysphagia (meat, bread), and motility disorders usually are associated with liquid and solid dysphagia.

The caveat to this clinical presentation is that patients with food impaction will also develop liquid dysphagia and an inability to handle secretions during an acute attack but will have no problems with liquids in between attacks. Additionally, one must always distinguish oropharyngeal dysphagia from esophageal dysphagia, and this can be done quite accurately by observing the patient swallow and/or eliciting a history of coughing, aspiration, and nasopharyngeal regurgitation immediately with the swallow (Table I).

Table I.

Diagnostic algorithm for esophageal motility disorders
Diagnosis Symptoms Findings
Esophageal motor disorder Dysphagia, chest pain, regurgitation, heartburn, evidence of impaired oral intake (malnutrition, weight loss, dehydration) – Negative endoscopy – Evidence of poor motility on endoscopy is a nonspecific finding Esophagram is specific for severe abnormalities (achalasia, cork screw esophagus, rosary bead esophagus)
Alternative diagnosis Overlapping symptoms Distinguishing features
Gastroesophageal reflux Heartburn, chest pain, dysphagia, and regurgitation Improvement with PPI
Mechanical obstruction– Eosinophilic esophagitis– Peptic stricture– Malignancy– Hiatus hernia Dysphagia, chest pain, heartburn, regurgitation Dysphagia is typically associated with solid food, but liquids are well tolerated.– Positive biopsies for eosonophilic esophagitis– Abnormal endoscopy
Oropharyngeal dysphagia Dysphagia, aspiration – Aspiration and coughing immediately with swallows– Nasopharyngeal regurgitation – Underlying neurologic disease-stroke, Parkinson's disease
Coronary artery disease Chest pain – Shortness of breath and symptoms worsening with exertion are not common with esophageal motor disorders.– Cardiac risk factors– Should always be considered and ruled out before an extensive GI workup is contemplated.
Pulmonary embolus Chest pain – Shortness of breath and symptoms worsening with exertion are not common with esophageal motor disorders.– Risk factors for hypercoagulable state

See Figure 1 (Comparison of disorders of hypercontractility and spasm with a normal swallow) and Figure 2 (Comparison of disorders of weak peristalsis and absent peristalsis with a normal swallow).

Figure 1.

Comparison of disorders of hypercontractility and spasm with a normal swallow. (Adapted from Pandolfino et al. Am J Gastroenterol 2008;103(1):27-37.)

Figure 2.

Comparison of disorders of weak peristalsis and absent peristalsis with normal swallow. (Adapted from Roman et al. Am J Gastroenterol 2011;106(2):349-56.)

Less common clinical presentations

Esophageal motor disorders can be associated with heartburn and atypical chest pain and thus, they must be distinguished from coronary artery disease, GERD, and EoE.

How can I confirm the diagnosis?

What tests should be ordered first?

Although the best test for evaluating and managing patients with esophageal motility disorders is manometry, all patients presenting with dysphagia should be evaluated with upper endoscopy to rule out mechanical obstruction. Barium esophagram is a useful tool for evaluating dysphagia; however, it has been replaced as the initial test due to the increasing vigilance for ruling out eosinophilic esophagitis.

What tests should be used to confirm the initial tests?

The most important test in the evaluation of esophageal motor disorders is manometry. Currently, new techniques, such as high-resolution manometry, esophageal pressure topography, and intraluminal impedance have been added to manometry to improve accuracy and provide additional information regarding bolus pressurization and transit.

What tests are useful if the diagnosis is still in doubt?

Barium esophagram remains a valuable tool for patients who have conflicting or unclear findings on manometry. In addition, flouroscopy is still a very useful tool in assessing patients after endoscopic and surgical treatment to assess both anatomy and bolus transit.

Smooth muscle relaxation

A diagnostic algorithm

Major risk factors for patients with esophageal motility disorders (Figure 3) represents the flow algorithm for diagnosing esophageal motility disorders using high-resolution manometry and esophageal pressure topography.

Figure 3.

The flow algorithm for diagnosing esophageal motility disorders using high-resolution manometry and esophageal pressure topography. (Adapted from Bredenoord et al. Neurogastroenterol Motil 2012;24(suppl 1):57-65.)

Evaluation of symptoms consistent with esophageal motility disorders

  • Rule out cardiopulmonary disease with a low threshold.

  • Rule out mechanical obstruction (endoscopy, esophagram). Endoscopy with biopsies is preferred as mucosal biopsies are always indicated to rule out eosinophilic esophagitis.

  • The primary indication for manometry is to investigate dysphagia or compatible symptoms (chest pain, regurgitation, aspiration) in patients with negative endoscopy.

If oropharyngeal dysphagia is considered based on the history, a videofluoroscopic evaluation (barium cookie swallow) should precede manometry.

If the manometry is unclear or does not fit with the clinical history, a radiographic evaluation with an esophagram can be very helpful (particularly in patients with post-operative complaints).

What other diseases, conditions, or complications should I look for in patients with esophageal motility disorders?

Major risk factors for patients with esophageal motility disorders

There does not appear to be any overt genetic predisposition or primary etiologic risk factor for the hypercontractile disorders or spastic disorders. However, the clinician must always consider a diagnosis of scleroderma when encountering a diagnosis of absent peristalsis and a normal or hypotensive esophagogastric junction (EGJ) pressure. This is not pathognomonic for scleroderma and absent peristalsis can be associated with severe GERD without an underlying collagen vascular disorder and a variant presentation of achalasia.

Diseases that may occur with esophageal motility disorders

See above discussion for diseases that may occur this esophageal motility disorders.

Commonly encountered complications

The main complications occurring with hypercontractile and spastic disorders focus on the downstream effects of dysphagia and chest pain. If severe, these symptoms could lead to malnutrition due to food avoidance. Additionally, swallowing disorders can also be associated with pulmonary disease (aspiration pneumonia, bronchiectasis) secondary to regurgitation and aspiration.

The main complications of absent peristalsis and severe peristaltic weakness are focused on impaired bolus transit and clearance. These defects are associated with increasing grades of esophagitis and more severe GERD as they inhibit one of the primary defense mechanisms for reflux, which is focused on esophageal clearance.

What is the right therapy for the patient with esophageal motility disorders?

What treatment options are effective?

The tenent of treating esophageal motor disorders focuses on reducing contractions in hypercontractile and spastic disorders and improving contractions in absent peristalsis and weak peristalsis. Unfortunately, the data supporting these therapies is relegated to small outcome studies and case series.

See Table II for primary and secondary treatment options.

Table II.

Primary and secondary treatment options
Esophageal motor disorder Primary treatment Secondary treatment
Hypercontractile
Spasm Smooth muscle relaxants–Nitrates–Calcium channel blockers –Type 5 phosphodiesterase Inhibitors Acid suppression–Botox–Surgeryndash;Antidepressants (TCA, SSRIs, Trazodone
Nutcracker/jackhammer Smooth muscle relaxants–Nitrates–Calcium channel blockers–Type 5 phosphodiesterase inhibitors Acid suppression–Botox–Antidepressants (TCA, SSRIs, Trazadone)
Hypotensive
Weak peristalsis Lifestyle modifications *Acid suppressionBethanecolMetoclopramide/Domperidone
Absent peristalsis Lifestyle modifications *Acid suppressionBethanecholMetoclopramide/Domperidone

What is the most effective initial therapy?

It should be noted that:

– All of the medical therapies listed below for hypercontractile disorders are off-label, as there are no FDA indications for the utilization of these medications in esophageal motility disorders.

– There is little data to support a direct correlation between reducing esophageal contractile amplitude and reducing symptoms.

Hypercontractile disorders and spasm

A trial of medical therapy focused on reducing contractile vigor may be attempted after one has ruled out an EGJ outflow obstruction. Calcium channel blockers (e.g., Nifedipine 10 mg PO with meals) or nitrates (Isordil 10 mg PO TID with meals) may be a reasonable starting point for patients with both hypercontractile disorders (nutcracker/jackhammer esophagus) or distal esophageal spasm. These therapies can be weaned up if there is no response to initial starting doses; however, side effects such as headache, dizziness, and weakness are limiting.

Absent peristalsis and weak peristalsis

Patients with symptoms associated with poor bolus transit should start with lifestyle modifications focused on avoiding specific foods and optimizing caloric intake with safe foods. Additionally, converting medications to formulations that are less inclined to cause pill esophagitis and that will be easier to ingest (sublingual, liquid, smaller diameter capsules/tablets). Unfortunately, the current prokinetics are largely ineffective and have been shown to be associated with significant side effects and complications and should be used judiciously.

Listing of usual initial therapeutic options, including guidelines for use, along with expected result of therapy.

An important caveat to the treatment of all esophageal motility disorders is to search for a possible overlap with GERD and to treat aggressively before considering the disorder as a primary motor abnormality.

The advent of newer technology in assessing esophageal motor disorders (esophageal pressure topography) has revealed that there are phenotypes of the various disorders that may distinguish primary motor pathology from an association with weak peristalsis and disorders that may be associated with poor bolus clearance (Figure 2).

Examples

– Spasm versus rapid contraction with normal latency

– Nutcracker versus jackhammer esophagus

A listing of a subset of second-line therapies, including guidelines for choosing and using these salvage therapies

Second-line treatment for hypercontractile disorders

Smooth muscle relaxation

Phosphodiesterase inhibitors -type 5 [sildenafil]

– Data is scarce; however, the rationale is biologically plausible.

– Much more expensive than nitrates and CCB and should be reserved for failures of these therapies (poor effect or side effects: headache, weakness, dizziness).

Other therapies

Botulinum toxin

– Proof of principle in achalasia.

– No randomized controlled data to advocate therapy.

– Potent inhibitor of acetylcholine form the presynaptic membrane of the neuromuscular junction that produces a state of denervation.

– May be contemplated on patients with severe dysphagia and chest pain, not responding to smooth muscle relaxants.

– Therapy is usually focused first on the lower esophageal sphincter (LES) and secondarily on the body of the esophagus. Our practice at our institution is to utilize 200 units of Botulinum toxin (100 units once cm above the squamocolumnar junction (SCJ) in 4 quadrants and an additional 100 units in the body dispersed along the area of hypercontractility defined by esophageal pressure topography (EPT) using endoscopic ultrasound to avoid complications, such as chest pain and infection.

Antidepressants

– Targets visceral hypersensitivity and should be considered in patients with minor abnormalities of hypercontractility.

– Tricyclic antidepressants, selective serotonin reuptake inhibitors, Trazadone can be utilized recognizing that there are no randomized controlled trials to support their use.

– Tricyclic antidepressants have an anticholinergic effect which may alter contractile amplitude.

Surgery

– Long myotomy, extending from the LES proximally onto the esophageal body, has been used to treat spastic disorders, especially in the context of a potential overlap with type III achalasia. This should be reserved for patients with severe complications and profound abnormalities on manometry.

– Complications, such as development of diverticuli, may warrant esophagectomy if the patient has severe complications (aspiration, severe malnutrition, and weight loss).

Second-line treatment for weak peristalsis and absent peristalsis

– Promotility agents will not alter esophageal function in patients with absent peristalsis.

– Treatment of scleroderma has not been shown to improve esophageal function in patients with esophageal involvement.

Promotility agents

Bethanecol is a cholinergic agonist through its ability to stimulate parasympathetic activity. It is FDA-approved for the treatment of GERD and may be helpful in patients with GERD overlap.

Benzamides (Metoclopramide and Domperidone)

Metoclopramide causes a central and peripheral dopamine 2 antagonism and may also exhibit some mild cholinergic activity that could promote an improvement in contractile vigor. However, severe neurologic defects make this medication a poor choice, and utilization should only be considered when other options have failed and informed consent documented in the chart regarding potential adverse effects.

Domperidone is a Dopamine 2 blocker with selective peripheral activity and theoretically should have less chance of neurologic side effects. It is only available in the United States through an investigational new drug program.

Antidepressants

– Targets visceral hypersensitivity and should be considered in patients with minor abnormalities of hypercontractility.

– Tricyclic antidepressants, selective serotonin reuptake inhibitors. Trazodone can be utilized recognizing that there are no randomized controlled trials to support their use.

– Tricyclic antidepressants have an anticholinergic effect and this may be a poor choice in patients with GERD overlap.

Listing of these, including any guidelines for monitoring side effects

See above.

How should I monitor the patient with esophageal motility disorders?

How should I monitor complications of the disease?

The complications of treatment focus primarily on the type of treatment utilized and are covered above.

How should I monitor progress of stage of the disease?

There is little data on the natural history of esophageal motility diseases and there is controversy regarding whether these disorders progress to achalasia or are initially misdiagnosed. Follow up regarding nutritional status and assessment for risk of aspiration are the most important features of follow-up as these may warrant more aggressive intervention to prevent life threatening complications.

What's the evidence?

Presentation of esophageal motor disorders

Pandolfino, JE, Kahrilas, PJ. "AGA technical review on the clinical use of esophageal manometry". Gastroenterology. vol. 128. 2005. pp. 206-24.

(The most recent AGA guidelines on esophageal manometry. Useful comprehensive review of techniques and the presentation of esophageal motor disorders.)

Confirming the diagnosis of esophageal motor disorders

Spechler, SJ, Castell, DO. "Classification of oesophageal motility abnormalities". Gut. vol. 49. 2001. pp. 145-51.

(Classification of esophageal motor disorders using conventional manometry.)

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. pp. 796-806.

(Classification of esophageal motor disorders using esophageal pressure topography.)

Management of hypercontractile disorders of the esophagus

Tutuian, R, Castell, DO. "Esophageal motility disorders (distal esophageal spasm, nutcracker esophagus, and hypertensive lower esophageal sphincter): modern management". Curr Treat Options Gastroenterol. vol. 9. 2006. pp. 283-94.

(Comprehensive review of presentation and treatment.)

Achem, SR. "Noncardiac chest pain-treatment approaches". Gastroenterol Clin North Am. vol. 37. 2008. pp. 859-78, ix.

(Review of noncardiac chest pain with emphasis on treating GERD.)

Management of plastic disorders of the esophagus

Tutuian, R, Castell, DO. "Review article: oesophageal spasm – diagnosis and management". Aliment Pharmacol Ther. vol. 23. 2006. pp. 1393-402.

(Comprehensive review on presentation and management.)

Bashashati, M, Andrews, C, Ghosh, S, Storr, M. "Botulinum toxin in the treatment of diffuse esophageal spasm". Dis Esophagus. vol. 23. 2010. pp. 554-60.

(Review on the use of Botox in spasm.)

Management of hypotensive disorders of the esophagus

Agrawal, A, Hila, A, Tutuian, R. "Bethanechol improves smooth muscle function in patients with severe ineffective esophageal motility". J Clin Gastroenterol. vol. 41. 2007. pp. 366-70.

(Study on bethanechol in ineffective motility.)

Fox, M, Hebbard, G, Janiak, P. "High-resolution manometry predicts the success of esophageal bolus transport and identifies clinically important abnormalities not detected by conventional manometry". Neurogastroenterol Motil. vol. 6. 2004. pp. 533-42.

(Characterizes bolus abnormalities associated with weak peristalsis.)

Fox, M, Menne, D, Stutz, B. "The effects of tegaserod on oesophageal function and bolus transport in healthy volunteers: studies using high-resolution manometry and videofluoroscopy". Aliment Pharmacol Ther. vol. 24. 2006. pp. 1017-27.

(Proof of principle regarding motility agents in treating weak peristalsis.)

Blonski, W, Vela, MF, Freeman, J. "The effect of oral buspirone, pyridostigmine, and bethanechol on esophageal function evaluated with combined multichannel esophageal impedance-manometry in healthy volunteers". J Clin Gastroenterol. vol. 43. 2009. pp. 253-60.

(Comparison of potential agents for improving contractile vigor.)
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