- Primary esophageal dysmotility
- Absence of esophageal peristalsis and impaired relaxation of the lower esophageal sphincter (LES)
- 1 to 2/100,000 population/year (1)
- Age of peak incidence: 30 to 60 years
- 10/100,000 population (2)
- Male = female
- No racial or ethnic preference
Etiology and Pathophysiology
- Impaired inhibitory innervation of esophageal smooth muscle and the LES (3)
- Inflammatory process leading to the degeneration of ganglion cells in the myenteric plexus, resulting in the loss of inhibitory neurotransmitters: nitric oxide (NO) and vasoactive intestinal polypeptide (VIP)
- Etiologies (3)
- Primarily idiopathic
- May have an autoimmune, viral, or neurodegenerative component
- May be associated with certain genetic syndromes (Down and Allgrove syndrome) (3)
No identifiable risk factors
No identifiable preventive measures
No specific physical exam findings
- Secondary achalasia (pseudoachalasia) (1,3)
- Attributed to a specific cause (e.g., GERD, hiatal hernia, psychosomatic manifestations)
- Accounts for 4% of cases with manometric findings consistent with achalasia
- Malignancy is the most common cause of pseudoachalasia.
- Adenocarcinoma of the gastric cardia accounts for 75% of secondary achalasia.
- Consider if short duration (<1 year) of symptoms, significant weight loss and age >55 years.
- Chagas disease (Trypanosoma cruzi)
- Intestinal pseudo-obstruction
- Postsurgical changes/dysmotility
- Postvagotomy, fundoplication, laparoscopic gastric band
Diagnostic Tests & InterpretationInitial Tests (lab, imaging)
- Barium esophagram/fluoroscopy (1,2,3)[C]
- Classic “bird’s beak” tapering of the distal esophagus and dilation of the esophageal body; may also see corkscrew appearance with aperistalsis
- Tertiary contractions seen in early stages
- Poor emptying of barium
- Column height of retained barium at 1 and 5 minutes after ingestion helps gauge severity.
- Chest CT scan (1,2,3)[C]
- May show dilated esophagus (mega- or “sigmoid” esophagus, if severely dilated)
- Esophageal manometry (gold standard) (1,3)[C]
- Confirms diagnosis or for preoperative assessment
- Will show aperistalsis of the esophageal body and impaired relaxation of the LES during a swallow
- High-resolution esophageal manometry (HREM) (1,2,4)[C]
- More sensitive than standard manometry (97%)
- Objectively measures elevated LES pressure (>15 mm Hg integrated relaxation pressure [IRP] is the cutoff.)
- Allows for subclassification into three types (Chicago classification) based on pattern of contractility within esophagus
- Type I (classic): no pressure waves recorded in distal esophagus
- Type II (pan-pressurization): panesophageal pressurizations
- Type III (spastic): >20% of swallows have rapidly propagating or spastic concomitant contractions.
- Esophagogastroduodenoscopy (EGD) (1,2,3)[C]
- Retained food/liquid and dilated esophagus suggest achalasia.
- Helps exclude pseudoachalasia
- A normal EGD does not rule out a clinical diagnosis of achalasia as 40% of patients have normal endoscopy.
- American Gastroenterology Association (AGA) guidelines: Perform EGD on all patients diagnosed with achalasia to evaluate for esophagitis and exclude pseudoachalasia (2)[C].
- Functional lumen imaging probe (FLIP) (1)[C]
- Relatively new diagnostic modality which measures the cross-sectional area and impedance patterns at the EG junction
- Efficacy and applicability to routine clinical practice still to be determined
- Primary goal of management is to prevent complications and preserve esophageal structure and function.
- Oral/sublingual medications provide short-term treatment and are not as effective as endoscopic and surgical therapies which are more definitive.
- Type II achalasia typically responds best to treatments, whereas type III has worst response (4).
- Endoscopic botulinum toxin injection (EBTI) (1,3)[C]
- Inhibits acetylcholine release and diminishes its stimulation, thus lowering LES pressure
- First treatment lasts about 6 months.
- 40% patients need repeated treatments which last for a shorter duration.
- May be the best option for patients who are not candidates for definitive therapy (dilation or myotomy)
- Endoscopic pneumatic balloon dilation (PD) (1,3)[C]
- Was the primary nonsurgical therapy prior to botulinum toxin injections
- Typically requires endoscopic and/or fluoroscopic guidance
- Low risk of perforation with graded serial dilations
- Not as definitive as surgery (2- to 5-year duration)
- Laparoscopic Heller myotomy (LHM) (1,2)[C]
- Most reliable and durable treatment option
- First myotomy completed in 1913
- Durability of 5 to 7 years
- Myotomy extends 2 to 3 cm to the proximal stomach to further reduce LES pressures (to <10 mm Hg) and to reduce dysphagia.
- Associated with increased postoperative gastroesophageal reflux
- Concurrent fundoplication often done to reduce postoperative reflux
- Most reliable and durable treatment option
- Peroral endoscopic myotomy (POEM) (1,2,3)[C]
- Relatively new therapy (first completed in 2008) which provides adequate symptom relief and is less invasive than LHM
- Submucosal tunnel created with an endoscopic electrocautery knife; myotomy performed within this tunnel which is closed using endoscopic clips
- May be preferred approach in type III achalasia were the myotomy can be tailored to include distal esophageal spasm
- Rate of postprocedure reflux not significantly different from LHM
- RCTs comparing POEM to other modalities needed
- Self-expanding metal stent (SEMS) (5)[C]
- Temporary placement of a self-expanding covered metal stent across the GE junction
- Efficacy may be similar to LHM but more studies needed.
- Endoscopic sclerotherapy (5)[C]
- Endoscopic injection of a sclerosing agent (i.e., ethanolamine) to the LES creating localized muscle necrosis
- Small number of observational studies with promising results; injections every 2 weeks until resolution of dysphagia
- Esophagectomy (5)[C]
- Last-resort treatment option
- High morbidity and mortality
- Assess preoperative morbidity to determine risks associated with anesthesia and invasive (i.e., endoscopic/surgical) treatment.
- Consider severity of symptoms and benefits of invasive therapy compared to overall prognosis and comorbidities.
- Consider percutaneous endoscopic gastrostomy (PEG) in patients who are poor surgical candidates and who have failed EBTI.
- Rarely seen in pediatric populations
- EBTI can be considered for treatment, but dose of botulinum toxin and frequency of injections is not well studied in children.
- PD is better described, but studies to understand long-term outcomes are still lacking.
- Prudent to consider as initial therapy to avoid risks associated with surgery
- LHM is the most definitive and successful treatment option.
- Limited experience with POEM in pediatric populations
- Symptoms may worsen during pregnancy.
- Treatment usually requested for severe disease and concern for malnourishment; need to weigh risks associated with EBTI and pneumatic dilation versus risk to fetus
- POEM not studied in pregnancy
- Decision to perform an LHM should be on a case-to-case basis.
Issues For Referral
LHM and POEM efficacy is operator dependent. Referral should be made to high-volume centers to optimize outcomes and minimize adverse events and complications.
Complementary and Alternative Medicine
No routine alternative or complementary therapies for achalasia
Post-LHM and post-POEM inpatient care vary by facility, with institutions having protocols for routine postprocedure care.
- Obtain a posttreatment barium study to evaluate for resolution.
- Consider proton pump inhibitor in patients with reflux symptoms.
- Reassess for treatment failure or recurrence of diseases based on symptoms.
- Pretreatment diet is limited to what is tolerated.
- No diet limitations in effectively treated patients after the immediate postoperative period
Based on longitudinal studies, there is no impact on life expectancy.
- Chronic esophageal dilation and stasis may result in local inflammation that increases risk for esophageal cancer (3)[C].
- American Society for Gastrointestinal Endoscopy (ASGE) favors radiographic or endoscopic surveillance for cancer every 3 years if achalasia has been present for >10 to 15 years (3)[C].
- K22.0 Achalasia of cardia
- 530.0 Achalasia and cardiospasm
- 266434009 Esophageal dysmotility
- 45564002 Achalasia of esophagus
- 48531003 Achalasia
- 715192004 Idiopathic achalasia of esophagus
- Achalasia is a rare, idiopathic disorder of esophageal motility.
- HREM allows for disease subclassification, which impacts treatment outcomes.
- Perform EGD on all patients with achalasia to rule out malignancy.
Christopher Kim, MD
Jadranko Corak, MD
- Tuason J, Inoue H. Current status of achalasia management: a review on diagnosis and treatment. J Gastroenterol. 2017;52(4):401–406. [PMID:23877351]
- Vaezi MF, Pandolfino JE, Vela MF. ACG clinical guideline: diagnosis and management of achalasia. Am J Gastroenterol. 2013;108(8):1238–1250. [PMID:27625387]
- Stavropoulos SN, Friedel D, Modayil R, et al. Diagnosis and management of esophageal achalasia. BMJ. 2016;354:i2785. [PMID:27110134]
- Rohof WOA, Bredenoord AJ. Chicago classification of esophageal motility disorders: lessons learned. Curr Gastroenterol Rep. 2017;19(8):37. [PMID:28730503]
- Krill JT, Naik RD, Vaezi MF. Clinical management of achalasia: current state of the art. Clin Exp Gastroenterol. 2016;9:71–82. [PMID:27110134]
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