Hospital Medicine

Achalasia and esophageal motility disorders

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I. What every physician needs to know.

Disorders of esophageal motility can be divided into two categories: hypomotility and hypermotility, either of which can affect the lower esophageal sphincter (LES) and/or the esophageal body.

The esophagus is lined by both circular and longitudinal muscles that terminate at a 2- to 4-cm circular muscle layer called the LES. The LES accounts for approximately 90% of the basal pressure at the gastroesophageal junction, and functions as an anti-reflux barrier. Esophageal peristalsis is a very synchronized action regulated by the vagus nerve that both stimulates and inhibits neurons in the esophageal myenteric plexus. The disruption of coordination between excitatory and inhibitory signals to myenteric neurons results in esophageal motility.

Hypomotility of the esophageal body ranges from low wave amplitude to complete peristaltic failure, and etiologies include rheumatologic (scleroderma, connective tissue disorders), endocrinologic (diabetes mellitus, hypothyroidism) and other diseases (alcoholism, amyloidosis).

The shared symptom of these disorders of hypomotility is gastroesophageal reflux disease (GERD). Food impaction and slow transit of pills may result in caustic esophageal damage as well. Barium esophagogram and manometry are the main diagnostic tools, and treatment varies with the etiology of the hypomotility.

Hypermotility of the LES is most commonly seen in achalasia, which is discussed in detail throughout the rest of this chapter. Hypertensive disorders of the esophageal body (which may or may not involve the LES) are termed spastic disorders. They can be further categorized as diffuse esophageal spasm (DES) and non-specific spastic disorders, and are almost universally idiopathic.

DES is characterized by uncoordinated or simultaneous contractions of the esophagus with abnormal peristalsis following swallowing. The other disorders may show abnormalities in the amplitude, frequency or duration of contractions and/or a hypertensive LES. One subgroup of spastic disorders is "nutcracker esophagus", characterized by contractions of high amplitude with otherwise normal peristalsis.

Presenting symptoms of all hypermotility disorders include chest pain (in 80-90% of cases), dysphagia, regurgitation, and heartburn. A barium swallow and/or manometry are the preliminary diagnostic tests. The significance of these disorders is not fully understood however, as abnormal results can be seen in patients with and without symptoms, and the pain may not be directly attributable to dysmotility.

Fortunately, these spastic disorders are not typically progressive or fatal. Treatment risks must therefore be especially weighed against potential benefits, with consideration of low-risk treatments (e.g., proton pump inhibitor to rule out possible GERD) first. Other options range from swallowing warm liquids with meals to invasive treatments used for achalasia (see below). Bougienage and serial dilation with increasing sizes of bougies may be effective for some patients. Potential benefit may also be seen from smooth muscle relaxants (e.g., nitrates, calcium channel blockers) or antidepressants (e.g., tricyclic antidepressants, serotonin reuptake inhibitors).

The remainder of this chapter focuses on achalasia.

Achalasia is a chronic motility disorder caused by impaired relaxation of the LES and usually aperistalsis of the distal two-thirds of the esophagus. The disorder results from dysfunction of the nitric oxide producing neurons that relax the distal esophagus. This leads to impaired muscle relaxation and hypercontractility in the distal esophagus and LES. The result is an often dramatic presentation of dysphagia, regurgitation and chest pain. Although the underlying etiology is still not known, viral, genetic, autoimmune, and chronic degenerative processes have been suggested. Primary achalasia should be differentiated from secondary achalasia which is typically indistinguishable from the primary form in both clinical presentation and diagnostic testing. Secondary achalasia is seen in some multisystem diseases like Chagas disease or is iatrogenic from fundoplication or gastric banding.

Achalasia is also known as: cardiospasm, achalasia cardiae, spastic achalasia, esophageal achalasia, and esophageal aperistalsis.

II. Diagnostic Confirmation: Are you sure your patient has achalasia?

Diagnosis of achalasia is relatively simple, with classic symptoms of dysphagia and regurgitation that are not due to gastroesophageal reflux disease (GERD). A diagnosis should be pursued only when an esophagogastroduodenoscopy (EGD) does not reveal mechanical obstruction or an inflammatory cause of these symptoms.

If achalasia is suspected, a barium swallow with fluoroscopy should be performed to look for poor peristalsis of the esophageal body and failure of the LES to relax, possibly a dilated esophagus and the pathognomonic "bird's beak" esophagus. The average patient is diagnosed after 4-6 years of symptoms. Early cases may have falsely negative radiographic studies, and later cases may be less symptomatic as the esophagus dilates. Manometry may also be indicated if radiographic studies are unrevealing.

A. History Part I: Pattern Recognition:

Dysphagia for both liquids and solids that is refractory to proton pump inhibitor therapy is the presenting symptom in almost all cases of achalasia. The degree of dysphagia may become so severe over time that patients report trying postural changes (e.g., raising their arms up, standing straight) to aid their swallowing.

Other common symptoms include heartburn, regurgitation, retrosternal chest discomfort and weight loss (later in disease). Patients often complain of non-esophageal symptoms including sore throat, hoarseness, and a nocturnal cough as a result of aspiration. Dysphagia typically precedes respiratory complaints by approximately 2-years alluding to the chronic and progressive nature of the disease.

Patients with achalasia tend to have a higher incidence of autoimmune diseases then the general population.

B. History Part 2: Prevalence:

The incidence of achalasia is 0.5-1 per 100,000 people each year. The estimated prevalence of the disease is 9/100,00 to 10/100,000 due to the chronicity of the disease. It can occur at any age but most commonly between 20 and 50 and has no gender predilection.

C. History Part 3: Competing diagnoses that can mimic disease achalasia.

Pseudoachalasia is a syndrome mimicking achalasia but is caused by mechanical obstruction or malignancy either obstructing from within the gastrointestinal tract, compressing externally or damaging the LES innervation. Ruling out pseudoachalasia is of utmost importance and often cannot be done with esophagogram or manometry, thus justifying routine endoscopy of patients with signs of achalasia. A computed tomography (CT) scan may also be indicated when a strong suspicion for pseudoachalasia exists.

Other secondary causes of achalasia include the following: Chagas disease, sarcoidosis, amyloidosis, and genetic disorders such as Allgrove's syndrome. Physicians must consider a diagnosis of scleroderma in patients who complain of both symptoms suggestive of esophageal dysmotility and respiratory symptoms.

Esophageal dysmotility and oropharyngeal dysphagia are often difficult to differentiate as patients can present with similar complaints. The latter can be caused by neuromuscular disorders such as multiple sclerosis, Parkinson disease, cerebrovascular accident or structural disorders such as Zenker diverticulum. A thorough history can help distinguish the two and if definitive testing is required often a modified barium swallow or nasopharyngeal laryngoscopy can help with the diagnosis.

Anorexia and bulimia must occasionally be considered, as regurgitation and weight loss may be pronounced. If a psychiatric evaluation is unrevealing, esophagogram and/or manometry should make the diagnosis.

For additional differential diagnoses see information on:

  • Stricture (esophageal strictures/webs)

  • Gastroesophageal reflux

  • Other esophageal motility disorders (see beginning of this chapter)

D. Physical Examination Findings.

There are no sensitive or specific physical examination findings for achalasia. However, certain maneuvers can help rule out other etiologies. For example, watching a patient drink water can be helpful to distinguish between oropharyngeal and esophageal dysmotility. Patients with oropharyngeal dysphagia will have difficulty moving the bolus into the esophagus and they will begin to cough and regurgitate immediately.

Additionally, there may be signs that may favor an alternative diagnosis, such as lymphadenopathy or a Sister Mary Joseph nodule suggestive of gastric cancer.

E. What diagnostic tests should be performed?

  • Barium swallow with fluoroscopy

  • Upper endoscopy

  • Manometry

1. What laboratory studies (if any) should be ordered to help establish the diagnosis? How should the results be interpreted?

No laboratory studies are particularly helpful in diagnosing achalasia.

2. What imaging studies (if any) should be ordered to help establish the diagnosis? How should the results be interpreted?

While plain radiographs may suggest the diagnosis with an absence of gastric bubble or esophageal dilation, the initial screening test for achalasia is a barium swallow with fluoroscopy once an EGD has ruled out pseudoachalasia or inflammation. The hallmark findings are poor peristalsis of the esophageal body and failure of the LES to relax, with a "bird's beak", tapered end as the classic finding. A dilated esophagus may also be present, worse at the distal region.

It is estimated that more than one third of patients have a falsely negative barium radiograph, making manometry the gold standard and the next step in these cases. A positive test for achalasia on manometry shows low amplitude, simultaneous contractions in place of the normal sequential, peristaltic movements, and failure of the LES to relax during swallowing. There have been advances in manometry that can evaluate esophageal peristaltic activity in great detail. This has led to the creation of a classification system that distinguishes achalasia by severity type. Each class requires the presence of impaired LES relaxation but are separated based on degree of esophageal peristalsis and pressures that have different prognostic implications.

F. Over-utilized or “wasted” diagnostic tests associated with this diagnosis.

None

III. Default Management.

Unfortunately, the underlying nerve damage in achalasia is irreversible. Even with treatment, the patient is likely to remain aperistaltic, but may have great improvement in symptoms and esophageal emptying. Treatment is aimed at reducing contractility at the LES. The four treatment categories available are medications, mechanical dilation, botulinum toxin injection, and surgery. The efficacy, risks, and benefits must be weighed to tailor therapy for each patient.

A. Immediate management.

In a symptomatic patient presenting with food impaction, a gastrointestinal consult for urgent upper endoscopy is warranted. Pharmacologic agents (see below) have limited effectiveness but may improve symptoms in the acute phase.

B. Physical Examination Tips to Guide Management.

NA

C. Laboratory Tests to Monitor Response To, and Adjustments in, Management.

NA

D. Long-term management.

The basic algorithm for treatment of achalasia begins with two groups, patients at low surgical risk and patients at high risk or who decline surgery. For the latter group, treatment options are limited to botulinum toxin injections or medications. For the former group, either mechanical dilation or surgical intervention is offered first, possibly depending on the success rate of surgeries at an institution.

Medications

Nitrates and calcium channel blockers may be used to relax smooth muscle and improve symptoms and are given sublingually because of patients' dysmotility and poor absorption. These medications are effective in lowering LES pressure by up to 47% to 64%, however, they inconsistently relieve symptoms of dysphagia. The effectiveness is unpredictable and often short-lived, and side effects include headaches, hypotension and edema.

In patients who cannot tolerate oral calcium channel blockers or nitrates, 5-phosphodieserase inhibitors such as sildenafil have been shown to lower LES pressures, however, long-term efficacy data is very limited. Thus, these medications are reserved for patients with relatively asymptomatic disease or significant comorbidities.

Botulinum toxin injection

Botulinum toxin type A, derived from Clostridium botulinum, can be injected directly into the LES to decrease basal tone. The toxin adheres to cholinergic nerves, irreversibly blocking acetylcholine release. Although many patients may respond initially, the effect is short-lived (often only 6 months), and repeated injections are decreasingly effective.

Patients may eventually require surgery, but with repeated injections, the area forms scar tissue, making surgical intervention much more difficult. This expensive therapy should be used only in patients who cannot undergo dilation or surgery, or possibly in difficult diagnoses of achalasia.

Mechanical dilation

Dilation, one of the oldest treatments for achalasia, is still an effective method. During endoscopy, polyethylene balloons of increasing size are sequentially inflated inside the LES, disrupting the tight muscular fibers. Randomized control trials have demonstrated a reduction in dysphagia symptoms that range from 62% to 90%. Pneumatic dilation has also been shown to have excellent long-term efficacy where only a third of patients will relapse in 4 to 6 years. Patients who do not respond to initial dilation are unlikely to respond to repeat procedures. The procedure's most feared complication is esophageal perforation and occurs at a rate of less than 1% with newer techniques. An esophagogram should be performed following the procedure, using a water-soluble contrast to rule out perforation.

Like botulinum toxin injections, repeated dilations may be decreasingly effective. Unlike botulinum toxin injections, however, there is no increase in scar tissue or complications should the patient require surgical correction in the future.

Surgery

There have been many advancements and modifications in surgical treatment that have made this intervention the most effective for achalasia. Although there are several operative approaches, most consist of a Heller myotomy, where the LES is severed to better food passage to the stomach, followed by a procedure (such as a Dor fundoplication) to prevent acid from refluxing into the esophagus once the LES is no longer an effective barrier. Ninety to ninety-five percent of patients will have excellent improvement in their symptoms following surgery, with an estimated 80-85% still well controlled 10 years later.

The results are thought to be highly dependent on surgical experience with a significant learning curve. Laparoscopic techniques and robotic arms are decreasing surgical time, hospital stays and invasiveness, making surgery a favorable option for those healthy enough.

A newer treatment approach is the per-oral endoscopic myotomy (POEM) which is performed intraluminally. The procedure involves creating an incision in the mid-esophagus extending to the gastric cardia and creating a selective myotomy in the LES. The advantages of POEM are that it is less invasive than a laparoscopic approach, it leads to shorter hospital stays and a myotomy can be performed at any length of the esophagus. Therefore, the patient with achalasia that does not respond to a laparoscopic approach due an incomplete dissection on the gastric side, can undergo POEM where the endoscopist can create an extended-length myotomy from the esophagus to the gastric cardia.

A growing amount of data has shown that POEM has similar short-term efficacy compared to laparoscopic myotomy. There is promising long-term data that show 2-month, 1- to 2-year, and 3-year overall success rates of 91.3%, 91.0%, and 88.5% respectively. Other studies have shown sustained success rates of POEM in over 90% over patients ranging from 1 to 3 years.

When myotomy and dilation fail, or in patients with a significantly dilated esophagus, complete esophagectomy may be indicated.

E. Common Pitfalls and Side-Effects of Management

Caution with choosing the initial treatment for achalasia is indicated, as it can influence the success rate of future interventions. For example, repeated botulinum toxin injections may cause scar tissue and worsen future surgical outcomes. Repeated injections or repeated dilations may be decreasingly successful. Medications are limited in their usefulness and have side effects such as hypotension and headaches.

Pneumatic dilations have a risk of perforation, which requires emergent surgical correction, so patients who are not good surgical candidates are usually not considered for dilations either. Because of the high risk of GERD following myotomy of the LES, an anti-reflux procedure is generally recommended in tandem.

The incidence of adverse effects from POEM is 3.2% and includes pneumothorax, severe bleeding, mucosal injuries including perforation, postoperative hematoma, and pleural effusion. However, as endoscopists become more competent with this novel technique, the incidence of morbidity should decrease.

Medication

If medications are used, the following doses are recommended:

  • Isosorbide dinitrate, 5-10mg sublingually before meals

  • Nifedipine 10-20mg sublingually before meals

Other calcium channel blockers can be used (e.g., diltiazem, verapamil), and are most effective when given sublingually immediately before a meal.

IV. Management with Co-Morbidities

NA

A. Renal Insufficiency.

No change in standard management.

B. Liver Insufficiency.

No change in standard management.

C. Systolic and Diastolic Heart Failure

No change in standard management.

D. Coronary Artery Disease or Peripheral Vascular Disease

No change in standard management.

E. Diabetes or other Endocrine issues

No change in standard management.

F. Malignancy

No change in standard management.

G. Immunosuppression (HIV, chronic steroids, etc.).

Patients with immunosuppression or who are on chronic steroids may have higher surgical risks or risks of perforation with dilation. Expert consultation is advised.

H. Primary Lung Disease (COPD, Asthma, ILD)

Patients with achalasia often have bronchopulmonary complications from aspiration, which may be more severe in patients with underlying lung disease. Significant lung disease also increases the risk of sedation, which is required for endoscopic treatment as well as the risk of using general anesthesia for surgical intervention.

I. Gastrointestinal or Nutrition Issues

Prior to treatment, if a patient has food impaction and cannot empty the esophagus of either food or liquids, they should remain nil per os (NPO) and depending on the time course until intervention, the patient's underlying nutritional status, and his comorbidities, total parenteral nutrition may be considered. Nutrition and speech therapy consultations may be helpful.

J. Hematologic or Coagulation Issues

No change in standard management.

K. Dementia or Psychiatric Illness/Treatment

No change in standard management.

V. Transitions of Care

A. Sign-out considerations While Hospitalized.

A sign-out should indicate the appropriate diet (e.g., NPO, honey thick, etc.) that is currently tolerated by the patient. If the patient has had a procedure, monitor for the potential complications listed above.

B. Anticipated Length of Stay.

Laparoscopic advancements in surgical techniques have decreased the hospital stay for most patients to 48-72 hours following surgery. Patients undergoing POEM can be discharged the day after procedure.

C. When is the Patient Ready for Discharge.

Patients who can tolerate sufficient nutrition without significant aspiration or impaction may be discharged, ideally after an intervention.

D. Arranging for Clinic Follow-up

Follow-up after hospitalization depends upon the severity of the patient's symptoms, nutritional status and interventions. As medications and botulinum toxin injections are less effective and short-lived, more frequent monitoring may be necessary. Alternatively, patients with successful dilation or surgery may not need to be seen for several months.

1. When should clinic follow up be arranged and with whom.

Follow-up with a gastroenterologist, a skilled esophageal surgeon and an internist may be indicated depending on the severity of symptoms and nutritional status and the planned intervention. Consider referral to a skilled esophageal center for patients with potentially complicated cases or who fail initial surgery and dilation.

2. What tests should be conducted prior to discharge to enable best clinic first visit.

None

3. What tests should be ordered as an outpatient prior to, or on the day of, the clinic visit.

If a physician needs more data aside from a focused history, they can evaluate a patient’s response to therapy with an esophageal time by barium swallow. However, it is not used to guide treatment. Rather, it is used as a tool to determine how closely a patient should follow-up as an outpatient.

E. Placement Considerations.

None

F. Prognosis and Patient Counseling.

Primary achalasia is rarely treated, as the underlying etiology is not known. The symptoms, however, can be improved with a variety of available treatments. Patients with achalasia have an increased risk of esophageal carcinoma, estimated to be 50 times the general population's rate, but only after more than 20 years from the diagnosis of achalasia. Routine endoscopic surveillance is not yet standard practice for these patients.

In patients who are not successfully treated, squamous cell carcinoma is also a risk, thought secondary to prolonged food stasis. Cessation of tobacco or alcohol products should be advised.

VI. Patient Safety and Quality Measures

A. Core Indicator Standards and Documentation.

NA

B. Appropriate Prophylaxis and Other Measures to Prevent Readmission.

Patients should be counseled on when to return emergently to the hospital, e.g., on signs of food impaction or perforation after dilation.

VII. What's the evidence?

Beck, WC, Sharp, KW. "Achalasia". Surg Clin N Am. vol. 91. 2011. pp. 1031-1037.

Clouse, RE, Diamant, NE, Feldman, M, Friedman, LS, Brandt, LJ. "Esophageal Motor and Sensory Function and Motor Disorders of the Esophagus". Sleisinger and Fordtran's Gastrointestinal and Liver Disease,. Saunders. 2006.

Francis, DL, Katzka, DA. "Achalasia: Update on the Disease and Its Treatment". Gastroenterology. vol. 139. 2010. pp. 369-374.

Haruhiro, I, Hiroki, S, Haruo, I, Manabu, O, Chiaki, S, Hitomi, M, Hiroshi, Y, Yasutoshi, K, Grimes, K, Shin-ei, K. "Per-Oral Endoscopic Myotomy: A Series of 500 Patients". Journal of the American College of Surgeons.. vol. 221. 2015. pp. 256-264.

Kahrilas, PJ, Pandolfino, JE, Feldman, M, Friedman, LS, Brandt, LJ. "Esophageal Neuromuscular Function and Motility Disorders". Sleisinger and Fordtran's Gastrointestinal and Liver Disease. Saunders. 2010.

McQuaid, KR, McPhee, SJ, Papadakis, MA, Rabow, MW. "Gastrointestinal Disorders, Esophageal Motility Disorders: Achalasia". Current Medical Diagnosis & Treatment 2012. McGraw-Hall. 2012.

Pandolfino, JE, Gawron, GJ. "Achalasia: A Systematic Review". JAMA,. vol. 12. 2015. pp. 1841-52.

Richter, JE, Boeckxstaens, GE. "Management of achalasia: surgery or pneumatic dilation". Gut. vol. 60. 2011. pp. 869-876.

Rothstein, RD. "A systematic approach to the patient with dysphagia". Hosp Pract (1995). vol. 32. 1997. pp. 169.

Woltman, TA, Pellegrini, CA, Oelschlager, BK. "Achalasia". Surg Clin N Am. vol. 85. 2005. pp. 483-493.

Young, HY, Hitomi, M, Philip, W, Hyojin, P. "Peroral Endoscopic Myotomy for Treating Achalasia and Esophageal Motility Disorders". Journal of Neurogastroenterology and Motility,. vol. 22. 2016. pp. 14-24.

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