- Author: Marco Ettore Allaix, MD, PhD; Chief Editor: Julian Katz, MD more...
Achalasia is a primary esophageal motility disorder characterized by the absence of esophageal peristalsis and impaired relaxation of the lower esophageal sphincter (LES) in response to swallowing. The LES is hypertensive in about 50% of patients. These abnormalities cause a functional obstruction at the gastroesophageal junction (GEJ).
Signs and symptoms
Symptoms of achalasia include the following:
Dysphagia (most common)
Physical examination is noncontributory.
See Presentation for more detail.
Laboratory studies are noncontributory. Studies that may be helpful include the following:
Esophageal manometry (the criterion standard): Incomplete LES relaxation in response to swallowing, high resting LES pressure, absent esophageal peristalsis
Prolonged esophageal pH monitoring to rule out gastroesophageal reflux disease and determine if abnormal reflux is being caused by treatment
Esophagogastroduodenoscopy to rule out cancer of the GEJ or fundus
Concomitant endoscopic ultrasonography if a tumor is suspected
See Workup for more detail.
The goal of therapy for achalasia is to relieve symptoms by eliminating the outflow resistance caused by the hypertensive and nonrelaxing LES.
Pharmacologic and other nonsurgical treatments include the following:
Administration of calcium channel blockers and nitrates decrease LES pressure (primarily in elderly patients who cannot undergo pneumatic dilatation or surgery)
Endoscopic intrasphincteric injection of botulinum toxin to block acetylcholine release at the level of the LES (mainly in elderly patients who are poor candidates for dilatation or surgery)
Surgical treatment includes the following:
Laparoscopic Heller myotomy, preferably with anterior (Dor; more common) or posterior (Toupet) partial fundoplication
Peroral endoscopic myotomy (POEM)
Patients in whom surgery fails may be treated with an endoscopic dilatation first. If this fails, a second operation can be attempted once the cause of failure has been identified with imaging studies. Esophagectomy is the last resort.
Sir Thomas Willis described achalasia in 1672. In 1881, von Mikulicz described the disease as a cardiospasm to indicate that the symptoms were due to a functional problem rather than a mechanical one. In 1929, Hurt and Rake realized that the disease was caused by a failure of the lower esophageal sphincter (LES) to relax. They coined the term achalasia, meaning failure to relax.
Achalasia is a primary esophageal motility disorder characterized by the absence of esophageal peristalsis and impaired LES relaxation in response to swallowing. The LES is hypertensive in about 50% of patients. These abnormalities cause a functional obstruction at the gastroesophageal junction. See the images below.
LES pressure and relaxation are regulated by excitatory (eg, acetylcholine, substance P) and inhibitory (eg, nitric oxide, vasoactive intestinal peptide) neurotransmitters. Persons with achalasia lack nonadrenergic, noncholinergic, inhibitory ganglion cells, causing an imbalance in excitatory and inhibitory neurotransmission. The result is a hypertensive nonrelaxed esophageal sphincter.
There is some evidence that achalasia is an autoimmune disease.[1, 2, 3] A European study compared immune-related deoxyribonucleic acid (DNA) in persons with achalasia with that of controls and found 33 single-nucleotide polymorphisms (SNPs) associated with achalasia. All of the were found in the major histocompatability complex region of chromosome 6, a location associated with autoimmune disorders such as multiple sclerosis, lupus, and type 1 diabetes.[2, 3]
United States incidence
The incidence of achalasia is approximately 1 per 100,000 people per year.
The incidence of esophageal dysmotility appears to increased in patients with spinal cord injury (SCI). In a study of 12 patients with paraplegia (level of injury between T4-T12), 13 patients with tetraplegia (level of injury between C5-C7), and 14 able-bodied individuals, Radulovic et al found 21 of the 25 patients (84%) with SCI had at least one esophageal motility anomaly compared to 1 of 14 able-bodied subjects (7%). Among the anomalies seen in SCI patients were type II achalasia (12%), type III achalasia (4%), esophagogastric junction outflow obstruction (20%), hypercontractile esophagus (4%), and peristaltic abnormalities (weak peristalsis with small or large defects or frequent failed peristalsis) (48%}.
Altered esophageal motility is sometimes seen in patients with anorexia nervosa. It is also seen in patients following eradication of esophageal varices by endoscopic sclerotherapy, in association with an increased number of endoscopic sessions but not with manometric parameters. Features of esophageal motility after endoscopic sclerotherapy are a defective lower sphincter and defective and hypotensive peristalsis.
In a retrospective study (1990-2013) from the Netherlands, the mean incidence of achalasia in children was 0.1 per 100,000 people per year . Relapse rates after the initial treatment were higher in those who underwent pneumodilation (79%) than Heller myotomy (21%), but complication were occurred more often following Heller myotomy (55.6%) than with pneumodilation (1.5%).
Chagas disease may cause a similar disorder to achalasia.
Sex- and age-related demographics
The male-to-female ratio of achalasia is 1:1.
Achalasia typically occurs in adults aged 25-60 years. Less than 5% of cases occur in children.
Gyawali CP. Achalasia: new perspectives on an old disease. Neurogastroenterol Motil. 2016 Jan. 28 (1):4-11. [Medline].
Gockel I, Becker J, Wouters MM, Niebisch S, Gockel HR, Hess T, et al. Common variants in the HLA-DQ region confer susceptibility to idiopathic achalasia. Nat Genet. 2014 Aug. 46(8):901-4. [Medline].
Mysterious esophagus disease is autoimmune after all. Ku Leuven. Available at http://www.kuleuven.be/english/news/mysterious-esophagus-disease-is-autoimmune-after-all. Accessed: Oct 29 2014.
Radulovic M, Schilero GJ, Yen C, et al. Greatly increased prevalence of esophageal dysmotility observed in persons with spinal cord injury. Dis Esophagus. 2015 Oct. 28 (7):699-704. [Medline].
Sato Y, Fukudo S. Gastrointestinal symptoms and disorders in patients with eating disorders. Clin J Gastroenterol. 2015 Oct 26. [Medline].
Herbella FA, Colleoni R, Bot L, Vicentine FP, Patti MG. High resolution manometry findings in patients after sclerotherapy for esophageal varices. J Neurogastroenterol Motil. 2015 Nov 10. [Medline].
Smits M, van Lennep M, Vrijlandt R, et al. Pediatric achalasia in the Netherlands: incidence, clinical course, and quality of life. J Pediatr. 2015 Nov 23. [Medline].
Ferri LE, Cools-Lartigue J, Cao J, Miller L, Mayrand S, Fried GM, et al. Clinical predictors of achalasia. Dis Esophagus. 2009 Aug 28. [Medline].
Pandolfino JE, Gawron AJ. Achalasia: a systematic review. JAMA. 2015 May 12. 313 (18):1841-52. [Medline].
Hand L. Achalasia: New Guidelines Address Diagnosis, Treatment. Medscape Medical News. Available at http://www.medscape.com/viewarticle/808810. Accessed: October 22, 2014.
Carlson DA, Ravi K, Kahrilas PJ, et al. Diagnosis of esophageal motility disorders: esophageal pressure topography vs. conventional line tracing. Am J Gastroenterol. 2015 Jul. 110 (7):967-77; quiz 978. [Medline].
Pandolfino JE, Ghosh SK, Rice J, Clarke JO, Kwiatek MA, Kahrilas PJ. Classifying esophageal motility by pressure topography characteristics: a study of 400 patients and 75 controls. Am J Gastroenterol. Jan 2008. 103 (1):27-37. [Medline].
Patti MG, Arcerito M, Tong J, De Pinto M, de Bellis M, Wang A, et al. Importance of preoperative and postoperative pH monitoring in patients with esophageal achalasia. J Gastrointest Surg. Nov-Dec 1997. 1 (6):505-10. [Medline].
Kroupa R, Hep A, Dolina J, Valek V, Matyasova Z, Prokesova J, et al. Combined treatment of achalasia - botulinum toxin injection followed by pneumatic dilatation: long-term results. Dis Esophagus. Feb 2010. 23 (2):100-5. [Medline].
Vaezi MF, Richter JE, Wilcox CM, Schroeder PL, Birgisson S, Slaughter RL, et al. Botulinum toxin versus pneumatic dilatation in the treatment of achalasia: a randomised trial. Gut. Feb 1999. 44(2):231-9. [Medline].
Zaninotto G, Annese V, Costantini M, Del Genio A, Costantino M, Epifani M, et al. Randomized controlled trial of botulinum toxin versus laparoscopic heller myotomy for esophageal achalasia. Ann Surg. Mar 2004. 239(3):364-70. [Medline].
Pastor AC, Mills J, Marcon MA, Himidan S, Kim PC. A single center 26-year experience with treatment of esophageal achalasia: is there an optimal method?. J Pediatr Surg. Jul 2009. 44(7):1349-54. [Medline].
Patti MG, Arcerito M, De Pinto M, Feo CV, Tong J, Gantert W, et al. Comparison of thoracoscopic and laparoscopic Heller myotomy for achalasia. J Gastrointest Surg. Nov-Dec 1998. 2 (6):561-6. [Medline].
Inoue H, Minami H, Kobayashi Y, Sato Y, Kaga M, Suzuki M, et al. Peroral endoscopic myotomy (POEM) for esophageal achalasia. Endoscopy. Apr 2010. 42 (4):265-71. [Medline].
Familiari P, Gigante G, Marchese M, et al. Peroral endoscopic myotomy for esophageal achalasia: outcomes of the first 100 patients with short-term follow-up. Ann Surg. 2016 Jan. 263 (1):82-7. [Medline].
Bhayani NH, Kurian AA, Dunst CM, Sharata AM, Rieder E, Swanstrom LL. A comparative study on comprehensive, objective outcomes of laparoscopic Heller myotomy with per-oral endoscopic myotomy (POEM) for achalasia. Ann Surg. 2014 Jun. 259 (6):1098-103. [Medline].
Worrell SG, Alicuben ET, Boys J, DeMeester SR. Peroral endoscopic myotomy for achalasia in a thoracic surgical practice. Ann Thorac Surg. 2016 Jan. 101 (1):218-25. [Medline].
Eckardt VF, Aignherr C, Bernhard G. Predictors of outcome in patients with achalasia treated by pneumatic dilation. Gastroenterology. Dec. 1992. 103 (6):1732-8. [Medline].
Hunter JG, Trus TL, Branum GD, Waring JP. Laparoscopic Heller myotomy and fundoplication for achalasia. Ann Surg. Jun 1997. 225(6):655-64; discussion. [Medline].
Patti MG, Fisichella PM, Perretta S, Galvani C, Gorodner MV, Robinson T, et al. Impact of minimally invasive surgery on the treatment of esophageal achalasia: a decade of change. J Am Coll Surg. May 2003. 196(5):698-703;. [Medline].
Richards WO, Torquati A, Holzman MD, Khaitan L, Byrne D, Lutfi R, et al. Heller myotomy versus Heller myotomy with Dor fundoplication for achalasia: a prospective randomized double-blind clinical trial. Ann Surg. Sep 2004. 240(3):405-12; discussion 412-5. [Medline].
Torquati A, Lutfi R, Khaitan L, Sharp KW, Richards WO. Heller myotomy vs Heller myotomy plus Dor fundoplication: cost-utility analysis of a randomized trial. Surg Endosc. Mar 2006. 20(3):389-93. [Medline].
Rebecchi F, Giaccone C, Farinella E, Campaci R, Morino M. Randomized controlled trial of laparoscopic Heller myotomy plus Dor fundoplication versus Nissen fundoplication for achalasia. Ann Surg. Dec 2008. 248 (6):1023–30. [Medline].
Rawlings A, Soper NJ, Oelschlager B, Swanstrom L, Matthews BD, Pellegrini C, et al. Laparoscopic Dor versus Toupet fundoplication following Heller myotomy for achalasia: results of a multicenter, prospective, randomized-controlled trial. Surg Endosc. Jan 2012. 26(1):18-26. [Medline].
Patti MG, Herbella FA. Fundoplication after laparoscopic Heller myotomy for esophageal achalasia: what type?. J Gastrointest Surg. Sep 2010. 14(9):1453-8. [Medline].
Rohof WO, Salvador R, Annese V, Bruley des Varannes S, Chaussade S, Costantini M, et al. Outcomes of treatment for achalasia depend on manometric subtype. Gastroenterology. 2013 Apr. 144(4):718-25; quiz e13-4. [Medline].
Elliott TR, Wu PI, Fuentealba S, Szczesniak M, de Carle DJ, Cook IJ. Long-term outcome following pneumatic dilatation as initial therapy for idiopathic achalasia: an 18-year single-centre experience. Aliment Pharmacol Ther. 2013 Jun. 37(12):1210-9. [Medline].
Reynoso JF, Tiwari MM, Tsang AW, Oleynikov D. Does illness severity matter? A comparison of laparoscopic esophagomyotomy with fundoplication and esophageal dilation for achalasia. Surg Endosc. May 2011. 25(5):1466-71. [Medline].
Sweet MP, Nipomnick I, Gasper WJ, Bagatelos K, Ostroff JW, Fisichella PM, et al. The outcome of laparoscopic Heller myotomy for achalasia is not influenced by the degree of esophageal dilatation. J Gastrointest Surg. Jan 2008. 12 (1):159-65. [Medline].
Cowgill SM, Villadolid D, Boyle R, Al-Saadi S, Ross S, Rosemurgy AS 2nd. Laparoscopic Heller myotomy for achalasia: results after 10 years. Surg. Endosc. Dec 2009. 23 (12):2644-9. [Medline].
Patti MG, Pellegrini CA, Arcerito M, Tong J, Mulvihill SJ, Way LW. Comparison of medical and minimally invasive surgical therapy for primary esophageal motility disorders. Arch Surg. Jun 1995. 130 (6):609-15; discussion 615-6. [Medline].
Boeckxstaens GE, Annese V, des Varannes SB, et al. Pneumatic dilation versus laparoscopic Heller's myotomy for idiopathic achalasia. N Engl J Med. May 2011. 364(19):1807-16. [Medline].
West RL, Hirsch DP, Bartelsman JFWM, de Borst J, Ferwerda G, Tytgat GNJ, et al. Long term results of pneumatic dilation in achalasia followed for more than 5 years. Am J Gastroenterol. Jun 2002. 97 (6):1346-51. [Medline].
Patti MG, Feo CV, Arcerito M, De Pinto M, Tamburini A, Diener U, et al. Effects of previous treatment on results of laparoscopic Heller myotomy for achalasia. Dig Dis Sci. Nov 1999. 44(11):2270-6. [Medline].
Smith CD, Stival A, Howell DL, Swafford V. Endoscopic therapy for achalasia before Heller myotomy results in worse outcomes than heller myotomy. Ann Surg. May 2006. 243(5):579-84; discussion 584-6. [Medline].
Katz PO, Gilbert J, Castell DO. Pneumatic dilatation is effective long-term treatment for achalasia. Dig Dis Sci. Sep 1998. 43(9):1973-7. [Medline].
Eckardt VF, Gockel I, Bernhard G. Pneumatic dilation for achalasia: late results of a prospective follow-up investigation. Gut. May 2004. 53 (5):629-33. [Medline].
Hungness ES, Teitelbaum EN, Santos BF, Arafat FO, Pandolfino JE, Kahrilas PJ, et al. Comparison of Perioperative Outcomes Between Peroral Esophageal Myotomy (POEM) and Laparoscopic Heller Myotomy. J Gastrointest Surg. Feb 2013. 17 (2):228-35. [Medline].
Gelfond M, Rozen P, Gilat T. Isosorbide dinitrate and nifedipine treatment of achalasia: a clinical, manometric and radionuclide evaluation. Gastroenterology. Nov 1982. 83(5):963-9. [Medline].
Nassri A, Ramzan Z. Pharmacotherapy for the management of achalasia: Current status, challenges and future directions. World J Gastrointest Pharmacol Ther. 2015 Nov 6. 6 (4):145-55. [Medline].