Achalasia
Achalasia
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Management of Achalasia,
Part 1: Diagnosis
OFER Z. FASS, MD
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Cleveland, Ohio
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ities similar to those observed in primary achalasia. These weight loss (35%).13,14 The regurgitation may not respond to
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conditions include malignancies (“pseudoachalasia”), Chagas proton pump inhibitor treatment.11 In some cases, regurgita-
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disease, and others. 9,10 This review focuses on primary tion may lead to complications such as bronchitis or recur-
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The most prominent symptoms of achalasia include a achalasia includes gastroesophageal reflux disease (GERD),
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progressive difficulty swallowing solids and liquids that eosinophilic esophagitis (EoE), stricture, other esophageal
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often is accompanied by weight loss.11 Patients frequently motor disorders, and malignancy.
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experience regurgitation of undigested food and saliva, The Eckardt score is a standardized tool that was initially
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which can potentially lead to complications such as bron- developed to measure treatment response based on 4 prin-
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chitis or recurrent aspiration pneumonia. Diagnosing acha- cipal symptoms of achalasia: dysphagia, regurgitation, chest
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lasia can be challenging since dysphagia has a broad range pain, and weight loss (Table 1).15 It uses a 4-point scale (0-3)
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of potential causes, necessitating various examinations and for each symptom, with a maximum score of 12. A score of
supportive tests. Achalasia is not uncommonly encountered no more than 3 indicates an adequate treatment outcome.
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in gastroenterology clinics, emphasizing the importance Although the Eckardt score has not been validated as a
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of maintaining a high degree of clinical suspicion for this patient-reported outcome, it serves as a valuable tool for
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This 2-part series focuses on the diagnosis and treat- sis of achalasia.16,17
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part 2 will cover treatment. The initial diagnostic step in evaluating achalasia should
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Overview of Diagnosis
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Achalasia is a condition that progresses slowly over the toms, such as mechanical obstructions or pseudoachalasia,
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course of several years, and its symptoms can be subtle. which require prompt evaluation and can mimic achalasia
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In a prospective study involving 87 individuals with acha- during esophageal manometry.18-20 However, endoscopy
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lasia, the average duration of symptoms before diagno- also can provide clues that increase suspicion for achalasia
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sis was 4.7 years.12 This highlights the need for healthcare and warrant further testing. Although the overall diagnostic
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2 GASTROENDONEWS.COM
yield of endoscopy for achalasia is low,11 certain endoscopic a height greater than 2 cm at 5 minutes (sensitivity 80%,
findings may raise suspicion for achalasia and prompt refer- specificity 86%).24
ral for manometric testing. In cases where high-resolution esophageal manom-
During endoscopy, the following features may suggest etry (HRM) studies yield inconclusive results, a TBE is rec-
achalasia (Table 2): ommended to distinguish between EGJ outlet obstruction
• dilated or tortuous esophageal lumen with a tight, but (EGJOO) and achalasia.25,26 The TBE is relatively easy to
not strictured, esophagogastric junction (EGJ); perform and provides reproducible results, making it a valu-
• retained food or saliva, along with signs of stasis able tool in such cases.
esophagitis;
Manometry
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gus that appear after deep inspiration (known as the Achalasia is diagnosed based on an elevated median
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esophageal rosette sign)21; and integrated relaxation pressure (IRP) and the absence of peri-
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• the “champagne glass sign,” which is characterized stalsis during 100% of swallows.26 In other words, all swallows
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by the distal end of the contracted LES being located either occur prematurely or fail to occur. Achalasia is fur-
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proximal to the squamocolumnar junction, while the ther divided into 3 subtypes based on manometric features
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squamocolumnar junction itself appears dilated in the (Figure 1). These subtypes reflect differences in disease
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may be used to rule out EoE, they do not have diagnostic Type I (classic) achalasia represents an advanced
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value for achalasia. In cases of achalasia, mucosal eosino- form of the disease characterized by progressive loss
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phils may be elevated due to primary autoimmune inflam- of neuronal cell function in the distal esophagus and
mation or secondary to stasis inflammation.11 Differentiating LES that leads to progressive dilation of the esoph-
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between EoE and achalasia based solely on these findings ageal body. 27 During HRM, type I achalasia is distin-
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can be challenging. However, the presence of dysphagia to guished by absent contractility and an increase in IRP.26
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Barium Esophagram
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Suggestive of Achalasia
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Endoscopic finding
lasia is a dilated esophagus with a tapered EGJ that
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findings include aperistalsis (lack of coordinated contrac- Dilated esophageal lumen with a tight
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tions), delayed barium emptying, and in late-stage acha- (not strictured) EGJ
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To increase the diagnostic yield, a timed barium esoph- distal esophagus that appear after deep inspiration
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yield for untreated achalasia from 79.5% to 100%, and is rec- Champagne glass sign: The distal end of contracted
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ommended by the American College of Gastroenterology LES is located proximal to the squamocolumnar
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guidelines.23,24 To perform a TBE, the patient typically is junction, while the squamocolumnar junction itself
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instructed to consume 200 mL of liquid barium sulfate rap- appears dilated in the retroflexed view
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and may involve a different pathophysiology compared differentiating achalasia from other disorders.24 In a study
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with types I and II, with less destruction of neurons from the evaluating FLIP, 13 patients with typical achalasia symptoms,
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myenteric plexus within the distal esophagus.28,29 It is char- absent peristalsis on HRM, and an IRP at the upper limit
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acterized by HRM findings that include at least 20% pre- of normal showed lower EGJ distensibility than 15 healthy
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mature and spastic swallows, defined by a distal latency of controls.30 In addition, these patients responded favorably
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less than 4.5 seconds and a distal contractile integral of at to achalasia-specific treatments, showing improvements in
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least 450 mm Hg·s·cm.26 The remaining swallows that are both reported Eckardt score and EGJ distensibility.
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not premature must either fail or fail with panesophageal HRM testing also can play a role in differentiating opioid-
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In certain cases, the diagnosis of achalasia type I or sia. Chronic opioid use has been shown to cause elevated
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II may be inconclusive. This can occur if a patient with IRP and peristaltic abnormalities resembling those seen in
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HRM patterns consistent with achalasia type I or II devel- patients with EGJOO and type III achalasia.31 Ideally, HRM
ops noticeable peristalsis when transitioning between should be performed when patients are not taking opioids,
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the supine and upright positions.26 In addition, achalasia but discontinuing opioid medications may not always be
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patients may demonstrate 100% absent contractility or pan- feasible for patients. In such cases, pharmacologic provo-
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esophageal pressurization but with borderline or normal IRP. cation with amyl nitrite and cholecystokinin has been shown
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All achalasia subtypes must have an elevated median integrated relaxation pressure and absence of peristalsis
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during 100% of swallows. Type I achalasia is distinguished by a distal contractile integral of <100 mm Hg·s·cm and
the absence of panesophageal pressurization. Type II achalasia is characterized by a panesophageal pressure wave
≥30 mm Hg. Type III achalasia is represented by ≥20% premature and spastic swallows, defined by a distal latency
of <4.5 s and a distal contractile integral ≥450 mm Hg·s·cm.26
4 GASTROENDONEWS.COM
to differentiate between opioid-induced esophageal motility heterogeneous among patients with type II achalasia.34
disorder and type III achalasia.32 Opioid-exposed patients Furthermore, a large retrospective study involving 240
demonstrate an attenuated rebound contraction of the LES achalasia patients demonstrated that a low EGJ distensibil-
during amyl nitrite recovery and esophageal contraction ity index is valuable for distinguishing patients from healthy
during the first phase of cholecystokinin response. controls. In addition, specific components of the distensibil-
ity index, such as a maximum EGJ diameter less than 16 mm,
The FLIP Assessment can increase the sensitivity of FLIP in diagnosing achalasia
Various studies have established the utility of FLIP in even when the EGJ distensibility index appears normal.35
identifying achalasia (Figure 2). In one study involving 40 FLIP also has the potential to identify patients with acha-
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patients referred for endoscopy and HRM, all 9 patients lasia-like symptoms but an inconclusive diagnosis, who
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with achalasia showed abnormal FLIP metrics, character- may benefit from achalasia-directed treatment. Studies
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ized by reduced EGJ opening (EGJ distensibility index have shown that patients with achalasia symptoms and
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<2.8 mm2/mm Hg) and an abnormal contractile response absent peristalsis on HRM but IRP values at the upper limit
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to distension.33 Another study of 145 patients with nonob- of normal have lower a EGJ distensibility index compared
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structive dysphagia found that among the 70 patients with with healthy controls and respond favorably to achalasia
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confirmed achalasia on HRM, all exhibited abnormal FLIP treatment.30 These results have been supported by other
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measurements of reduced EGJ opening and abnormal studies. 36 Similarly, a retrospective study of 89 patients
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contractility. However, the contractility patterns were more undergoing peroral endoscopic myotomy (POEM) identified
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A FLIP study in a patient with achalasia. Balloon volume at 50 mL demonstrates a distensibility index of 0.52,
diameter of 4.7 mm, pressure of 33.1 mm Hg, and absent contractility.33
FLIP, functional lumen imaging probe.
subtypes of achalasia. chest pain, and weight loss. This recognition is paramount
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Achalasia is a complex esophageal motility disorder nuances, coupled with the strategic use of advanced tech-
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that has a significant impact on patients’ well-being and niques like HRM, TBE, and FLIP, equips clinicians to nav-
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healthcare resources. Its etiology involves the inflammatory igate the complexities of this condition and offer optimal
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References
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30. Ponds FA, Bredenoord AJ, Kessing BF, et al. Esophagogastric 37. Kim E, Yoo IK, Yon DK, et al. Characteristics of a subset
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junction distensibility identifies achalasia subgroup with of achalasia with normal integrated relaxation pressure.
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associated with dysphagia, esophageal outflow obstruction and Ofer Fass reported no relevant financial disclosures.
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disordered peristalsis. Neurogastroenterol Motil. 2019;31(7):e13601. Ronnie Fass is an advisor for Medtronic, speaker for Laborie,
and receives research support from Diversatek. He is a member
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GastroEndoNews.com
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A Supplement to PRINTER-FRIENDLY VERSION AVAILABLE AT GASTROENDONEWS.COM A Supplement to PRINTER-FRIENDLY VERSION AVAILABLE AT GASTROENDONEWS.COM
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Department of Medicine
School of Medicine and Public Health
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University of Wisconsin–Madison
ABHILASH PERISETTI, MD Madison, Wisconsin
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Department of Gastroenterology
Kansas City VA Medical Center
Kansas City, Missouri
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PRATEEK SHARMA, MD
Department of Gastroenterology
haracterized by chronic
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Kansas City VA Medical Center
Kansas City, Missouri
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inflammation of the
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B is the premalignant
tive family history, and tobacco smoking. Given the risk for
malignant transformation, early identification of BE-related
at least 3.1 million people in the
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neoplasia is essential because these lesions can har- United States.1 Patients with
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condition for esophageal bor cancer, which may be curable if identified early. With
advances in endoscopic visualization and interventions, IBD are at increased risk for
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vaccine-preventable diseases,
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A Supplement to PRINTER-FRIENDLY VERSION AVAILABLE AT GASTROENDONEWS.COM A Supplement to PRINTER-FRIENDLY VERSION AVAILABLE AT GASTROENDONEWS.COM
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Professor of Medicine
Division of Gastrointestinal and Liver Disease John Hunter Hospital
Baylor College of Medicine
University of Southern California Newcastle, Australia
Houston, Texas
Los Angeles
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A gastrointestinal endoscopies
(0.4% of all endoscopies) are
performed in pregnant patients in the
United States each year,1 endoscopy
in this setting often causes anxiety
and hesitation for both the physician
and patient. These reactions are
understandable given the paucity of
safety data on endoscopy for the fetus
during the procedure. Both mother and
baby are at risk during the procedure,
and it is difficult to reliably monitor fetal
well-being.
I
n the half-century since the first colonoscopy was performed in 1969, the procedure has
become a mainstay for managing colorectal cancer screening and assessing bowel
symptoms.1 In the United States alone, approximately 16 million colonoscopies are
performed annually.2
G A S T R O E N T E R O L O G Y & E N D O S C O P Y N E W S • M AY 2 0 2 3 1
GASTROENTEROLOGY & ENDOSCOPY NEWS • APRIL 2023 1