Expert Review of Gastroenterology & Hepatology
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Esophageal achalasia: current diagnosis and treatment Francisco Schlottmann & Marco G. Patti To cite this article: Francisco Schlottmann & Marco G. Patti (2018): Esophageal achalasia: current diagnosis and treatment, Expert Review of Gastroenterology & Hepatology, DOI: 10.1080/17474124.2018.1481748 To link to this article: https://doi.org/10.1080/17474124.2018.1481748
Accepted author version posted online: 27 May 2018. Published online: 08 Jun 2018. Submit your article to this journal
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EXPERT REVIEW OF GASTROENTEROLOGY & HEPATOLOGY https://doi.org/10.1080/17474124.2018.1481748
REVIEW
Esophageal achalasia: current diagnosis and treatment Francisco Schlottmanna and Marco G. Pattib a
Department of Surgery, University of North Carolina, Chapel Hill, North Carolina, USA; bDepartment of Medicine and Surgery, Center for Esophageal Diseases and Swallowing, University of North Carolina, Chapel Hill, North Carolina, USA ABSTRACT
ARTICLE HISTORY
Introduction: Esophageal achalasia is a primary esophageal motility disorder of unknown origin, characterized by lack of peristalsis and by incomplete or absent relaxation of the lower esophageal sphincter in response to swallowing. The goal of treatment is to eliminate the functional obstruction at the level of the gastroesophageal junction. Areas covered: This comprehensive review will evaluate the current literature, illustrating the diagnostic evaluation and providing an evidence-based treatment algorithm for this disease. Expert commentary: Today, we have three very effective therapeutic modalities to treat patients with achalasia – pneumatic dilatation, peroral endoscopic myotomy, and laparoscopic Heller myotomy with fundoplication. Treatment should be tailored to the individual patient, in centers where a multidisciplinary approach is available. Esophageal resection should be considered as a last resort for patients who have failed prior therapeutic attempts.
Received 16 April 2018 Accepted 24 May 2018 KEYWORDS
Esophageal achalasia; dysphagia; esophageal manometry; pneumatic dilatation; per oral endoscopic myotomy; Heller myotomy; Dor fundoplication
1. Introduction
3. Pathophysiology
Achalasia is a primary esophageal motility disorder characterized by lack of esophageal peristalsis and by partial or absent relaxation of the lower esophageal sphincter (LES) in response to swallowing. Consequently, there is a functional obstruction at the level of the gastroesophageal junction, which determines impairment of the esophageal emptying. Most patients experience severe dysphagia, regurgitation, and weight loss, which affect their quality of life. The last 25 years have witnessed a significant improvement in our understanding of the pathophysiology of achalasia and our ability to diagnose and treat it.
In physiologic conditions, the LES has a myogenic tone to prevent reflux of gastric contents, and it relaxes in response to swallowing, esophageal distension, or gastric distension. The LES is under neurogenic control through the myenteric plexus, which contains both excitatory (acetylcholine) and inhibitor (nitric oxide and vasoactive intestinal polypeptide) neurons. Contrary to the LES, the esophageal body does not have a resting tone, and primary peristalsis is initiated by nonsequential simultaneous central activation, and is believed to be propagated mostly by peripheral mechanisms to produce deglutitive inhibition followed by excitation [6,7]. The pathophysiology of achalasia involves the selective degeneration of inhibitory neurons of the esophageal myenteric plexus, needed for peristalsis of the smooth muscle of the esophageal body as well as for relaxation of the LES [8]. The etiology of this degenerative process is largely unknown. Some viruses such as varicella-zoster, human papilloma, and herpes virus have been implicated in causing an inflammatory reaction [9]. Usually, the nitric oxide-producing neurons are affected, while the cholinergic neurons are spared. As a consequence, the LES does not relax properly and it is often hypertensive. An autoimmune etiology has also been suggested, with evidence of antibodies against myenteric neurons in the serum of achalasia patients [10,11]. In addition to the idiopathic form of achalasia, there are other types of achalasia that are secondary to known causes, such as Chagas disease. The disease is caused by the inoculation through a bug bite of a parasite – Trypanosoma cruzi – which subsequently
2. Epidemiology Achalasia is a rare disease with a prevalence traditionally assumed to be 1 in 100,000 individuals. However, recent data show that the prevalence is at least two- to threefold greater than previous estimates [1]. The increased prevalence of achalasia may be secondary to a higher awareness of the disease. For instance, achalasia is often mistaken as gastroesophageal reflux disease (GERD) [2] with many patients treated for years with proton pump on the assumption that the symptoms were caused by GERD [3]. In addition, there is today improved ability to establish the diagnosis thanks to new technology such has high-resolution manometry (HRM). The prevalence of the disease is variable worldwide. In countries where Chagas disease is endemic such as in Brazil, the prevalence may reach up to 840/100,000 individuals [4]. Achalasia occurs with equal frequency in men and women. There is a bimodal distribution of incidence by age, with peaks at around age 30 and 60 years [5].
CONTACT : Marco G. Patti 7081, Chapel Hill, NC
[email protected]
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F. SCHLOTTMANN AND M. G. PATTI
invades internal organs such as the heart, the brain, and the gastrointestinal tract [12]. The mean age of patients in Chagas series ranges from 33 to 50 years. The parasite leads to an immunological reaction with destruction of the esophageal plexus, causing a disease undistinguishable from idiopathic achalasia [13]. A secondary form of achalasia – pseudo-achalasia – is caused by malignancy. Cancer of the esophagus can cause an achalasia type picture, and it should be excluded in patients older than 60, who have been symptomatic for a short time, and have lost a considerable amount of weight [14]. In addition to locally invasive cancers, cancer of the breast and small-cell lung cancer can cause a paraneoplastic syndrome with disordered esophageal motility, probably secondary to humoral factors, neuronal degeneration, or abnormal neurotransmission [15,16]. Finally, achalasia is part of the Allgrove’s (triple A) syndrome, characterized by achalasia, alacrima, and adrenal insufficiency.
4.5. Eckardt score
4. Clinical presentation
5.1. Esophagogastroduodenoscopy
The diagnosis of achalasia can be challenging, because it is a rare disease and because symptoms such as dysphagia, regurgitation, and heartburn can be caused by other disorders. As a consequence, there is often a long delay between the onset of symptoms and the diagnosis [17].
This is the first test usually performed in patients with dysphagia to rule out a mechanical cause such as a peptic stricture or cancer. In about 30–40% of patients, the esophagogastroduodenoscopy (EGD) can be normal [23]. In the remaining patients, retained food can be found, and the esophagus can be dilated or tortuous. The esophageal mucosa can be normal or show signs of esophagitis usually secondary to food stasis or candida infection [24].
The Eckardt score is the grading system most frequently used for the evaluation of symptoms of achalasia and of the efficacy of treatment [21]. It attributes points (0–points) to 4 symptoms of the disease (dysphagia, regurgitation, chest pain, and weight loss), and it ranges from 0 to 12 (Table 1). Treatment is considered successful if it brings the Eckardt score to 3 or less.
5. Diagnostic evaluation The American College of Gastroenterology guidelines for the diagnosis of achalasia recommend endoscopy to rule out pseudo-achalasia, barium swallow to delineate the esophageal emptying and anatomy, and esophageal manometry to confirm the diagnosis [22]. Sometimes, the ambulatory 24-h pH monitoring is necessary to distinguish between achalasia and GERD.
4.1. Dysphagia Dysphagia, both for solids and liquids, is the most frequently reported symptom, being present in about 95% of patients. Some patients adapt by changing their diet and are able to maintain a stable weight, whereas others eventually experience a progressive weight loss [18].
4.2. Regurgitation and aspiration Regurgitation of undigested food is the second most common symptom, and it is present in about 70% of patients. Regurgitation occurs more frequently in the supine position and can cause aspiration with cough, hoarseness, wheezing, and episodes of pneumonia.
5.2. Barium swallow This test provides information about the anatomy of the esophagus (diameter and axis). Typical radiologic findings are narrowing at the level of the gastroesophageal junction (so-called bird beak), slow emptying of the contrast from the esophagus into the stomach with an air fluid level, and tertiary contractions of the esophageal wall (Figure 1). In addition, it is possible to identify associated pathology such as an epiphrenic diverticulum (Figure 2). The barium swallow, however, fails to show abnormalities in about 30% of patients, particularly in the early stage of the disease. A timed barium swallow can be also performed to assess emptying of the esophagus after treatment, by measuring the height of the barium column 5 min after ingestion of diluted barium [25].
4.3. Heartburn Heartburn is experienced by 40–50% of patients. In the untreated patient, it is not due to abnormal gastroesophageal reflux but rather to stasis and fermentation of undigested food in the esophagus. Unfortunately, this symptom is often attributed to gastroesophageal reflux, and patients are treated with proton pump inhibitors with a consequent delay in diagnosis [19]. Sometimes, they are considered ‘refractory to medical treatment’ and antireflux surgery is advised.
5.3. Esophageal manometry Esophageal manometry is the gold standard for the diagnosis of achalasia. Lack of peristalsis and partial or absent relaxation of the LES in response to swallowing are the key criteria for the diagnosis. While in the past it was thought that the LES was hypertensive in all patients, today it is known that an Table 1. Eckardt score (clinical scoring system for achalasia).
4.4. Chest discomfort/pain Chest discomfort or pain is experience by 40–50% of patients. Esophageal distension may be responsible [20].
Score 0 1 2 3
Weight loss (kg) None 10
Dysphagia None Occasional Daily Each meal
Retrosternal pain None Occasional Daily Each meal
Regurgitation None Occasional Daily Each meal
EXPERT REVIEW OF GASTROENTEROLOGY & HEPATOLOGY
Figure 1. Barium esophagram in a case of achalasia. Esophageal dilatation and narrowing of the distal esophagus (bird’s beak sign).
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In 2008, Pandolfino et al. [27] proposed a new classification according to the HRM manometric patterns of esophageal body contractions – the so-called Chicago classification. This classification, now in version 3.0 [28], divides achalasia in three subtypes (Figure 3): Type I: incomplete LES relaxation, aperistalsis, and absence of esophageal pressurization. Type II: incomplete LES relaxation, aperistalsis, and pan esophageal pressurization in at least 20% of swallows. Type III: incomplete LES relaxation and premature ‘spastic’ contractions (distal latency
