Basics

Description

  • Primary esophageal dysmotility
  • Absence of esophageal peristalsis and impaired relaxation of the lower esophageal sphincter (LES)

Epidemiology

Incidence
  • 1 to 2/100,000 population/year (1)
  • Age of peak incidence: 30 to 60 years

Prevalence
  • 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)

Risk Factors

No identifiable risk factors

General Prevention

No identifiable preventive measures

Diagnosis

History

  • Dysphagia to solids and liquids, gradually worsening over time (1,2)
  • Regurgitation (most commonly at night in the recumbent position) (1,2)
    • Can result in nocturnal cough and aspiration
  • Nonsevere, reflux-type chest discomfort or pain
  • Indolent course
  • Sitophobia (fear of eating) can lead to weight loss.

Physical Exam

No specific physical exam findings

Differential Diagnosis

  • 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)
  • Scleroderma
  • Intestinal pseudo-obstruction
  • Postsurgical changes/dysmotility
    • Postvagotomy, fundoplication, laparoscopic gastric band

Diagnostic Tests & Interpretation

Initial 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)

Diagnostic Procedures/Other
  • 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

Treatment

General Measures

  • 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).

Medication

Drug therapy

  • Nitrates and calcium channel blockers
    • Reduce LES pressure and relax smooth muscle (1,2)[C]

Surgery/Other Procedures

Endoscopic

  • 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
  • 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
Geriatric Considerations
  • 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.
Pediatric Considerations
  • 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
Pregnancy Considerations
  • 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

Inpatient Considerations

Post-LHM and post-POEM inpatient care vary by facility, with institutions having protocols for routine postprocedure care.

Ongoing Care

Follow-up Recommendations

  • 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.

Diet

  • Pretreatment diet is limited to what is tolerated.
  • No diet limitations in effectively treated patients after the immediate postoperative period

Prognosis

Based on longitudinal studies, there is no impact on life expectancy.

Complications

  • 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].

Codes

ICD-10

  • K22.0 Achalasia of cardia

ICD-9

  • 530.0 Achalasia and cardiospasm

SNOMED

  • 266434009 Esophageal dysmotility
  • 45564002 Achalasia of esophagus
  • 48531003 Achalasia
  • 715192004 Idiopathic achalasia of esophagus

Clinical Pearls

  • 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.

Authors


Christopher Kim, MD
Jadranko Corak, MD

Bibliography

  1. Tuason J, Inoue H. Current status of achalasia management: a review on diagnosis and treatment. J Gastroenterol. 2017;52(4):401–406.  [PMID:23877351]
  2. Vaezi MF, Pandolfino JE, Vela MF. ACG clinical guideline: diagnosis and management of achalasia. Am J Gastroenterol. 2013;108(8):1238–1250.  [PMID:27625387]
  3. Stavropoulos SN, Friedel D, Modayil R, et al. Diagnosis and management of esophageal achalasia. BMJ. 2016;354:i2785.  [PMID:27110134]
  4. Rohof WOA, Bredenoord AJ. Chicago classification of esophageal motility disorders: lessons learned. Curr Gastroenterol Rep. 2017;19(8):37. [PMID:28730503]
  5. Krill JT, Naik RD, Vaezi MF. Clinical management of achalasia: current state of the art. Clin Exp Gastroenterol. 2016;9:71–82. [PMID:27110134]


© Wolters Kluwer Health Lippincott Williams & Wilkins
Achalasia is a sample topic from the 5-Minute Clinical Consult.

To view other topics, please or purchase a subscription.

Medicine Central™ is a quick-consult mobile and web resource that includes diagnosis, treatment, medications, and follow-up information on over 700 diseases and disorders, providing fast answers—anytime, anywhere. Learn more.

Citation

* When formatting your citation, note that all book, journal, and database titles should be italicized* Article titles in AMA citation format should be in sentence-case
TY - ELEC T1 - Achalasia ID - 816837 Y1 - 2019 PB - 5-Minute Clinical Consult, Updating UR - https://im.unboundmedicine.com/medicine/view/5-Minute-Clinical-Consult/816837/all/Achalasia ER -