Diagnostic Considerations

Cancer of the gastroesophageal junction

The invasion of the esophageal neural plexus by the tumor can cause nonrelaxation of the LES, thus mimicking achalasia. This condition is known as malignant pseudoachalasia. Since contrast radiography and endoscopy frequently fail to differentiate these two entities, patients with a presumed diagnosis of achalasia but who have a shorter duration of symptoms, greater weight loss, and a more advanced age and who are referred for minimally invasive surgery should undergo additional imaging studies, including endoscopic ultrasound and computed tomography with fine cuts of the gastroesophageal junction, to rule out cancer.

Differential Diagnoses

Workup

Jia X, Chen S, Zhuang Q, et al. Achalasia: the current clinical dilemma and possible pathogenesis. J Neurogastroenterol Motil. 2023 Apr 30. 29(2):145-55. [QxMD MEDLINE Link]. [Full Text].
Gyawali CP. Achalasia: new perspectives on an old disease. Neurogastroenterol Motil. 2016 Jan. 28(1):4-11. [QxMD MEDLINE Link].
Gockel I, Becker J, Wouters MM, et al. Common variants in the HLA-DQ region confer susceptibility to idiopathic achalasia. Nat Genet. 2014 Aug. 46(8):901-4. [QxMD MEDLINE Link].
Mysterious esophagus disease is autoimmune after all. Ku Leuven. Available at https://nieuws.kuleuven.be/en/content/2014/mysterious-esophagus-disease-is-autoimmune-after-all. Accessed: Oct 29, 2014.
Kessing BF, Bredenoord AJ, Smout AJ. Erroneous diagnosis of gastroesophageal reflux disease in achalasia. Clin Gastroenterol Hepatol. 2011 Dec. 9(12):1020-4. [QxMD MEDLINE Link].
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. [QxMD MEDLINE Link].
Sato Y, Fukudo S. Gastrointestinal symptoms and disorders in patients with eating disorders. Clin J Gastroenterol. 2015 Oct. 8(5):255-63. [QxMD MEDLINE Link].
Herbella FA, Colleoni R, Bot L, Vicentine FP, Patti MG. High-resolution manometry findings in patients after sclerotherapy for esophageal varices. J Neurogastroenterol Motil. 2016 Apr 30. 22(2):226-30. [QxMD MEDLINE Link].
Smits M, van Lennep M, Vrijlandt R, et al. Pediatric achalasia in the Netherlands: Incidence, clinical course, and quality of life. J Pediatr. 2016 Feb. 169:110-5.e3. [QxMD MEDLINE Link].
Ferri LE, Cools-Lartigue J, Cao J, et al. Clinical predictors of achalasia. Dis Esophagus. 2010 Jan. 23(1):76-81. [QxMD MEDLINE Link].
Pandolfino JE, Gawron AJ. Achalasia: a systematic review. JAMA. 2015 May 12. 313(18):1841-52. [QxMD MEDLINE Link].
Yadlapati R, Kahrilas PJ, Fox MR, et al. Esophageal motility disorders on high-resolution manometry: Chicago classification version 4.0(©). Neurogastroenterol Motil. 2021 Jan. 33(1):e14058. [QxMD MEDLINE Link]. [Full Text].
[Guideline] Vaezi MF, Pandolfino JE, Yadlapati RH, Greer KB, Kavitt RT. ACG clinical guidelines: diagnosis and management of achalasia. Am J Gastroenterol. 2020 Sep. 115(9):1393-411. [QxMD MEDLINE Link]. [Full Text].
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. [QxMD MEDLINE Link].
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. 2008 Jan. 103(1):27-37. [QxMD MEDLINE Link].
Patti MG, Arcerito M, Tong J, et al. Importance of preoperative and postoperative pH monitoring in patients with esophageal achalasia. J Gastrointest Surg. 1997 Nov-Dec. 1(6):505-10. [QxMD MEDLINE Link].
Kroupa R, Hep A, Dolina J, et al. Combined treatment of achalasia - botulinum toxin injection followed by pneumatic dilatation: long-term results. Dis Esophagus. 2010 Feb. 23(2):100-5. [QxMD MEDLINE Link].
Vaezi MF, Richter JE, Wilcox CM, et al. Botulinum toxin versus pneumatic dilatation in the treatment of achalasia: a randomised trial. Gut. Feb 1999. 44(2):231-9. [QxMD MEDLINE Link]. [Full Text].
Zaninotto G, Annese V, Costantini M, et al. Randomized controlled trial of botulinum toxin versus laparoscopic heller myotomy for esophageal achalasia. Ann Surg. 2004 Mar. 239(3):364-70. [QxMD MEDLINE Link].
van Hoeij FB, Prins LI, Smout AJPM, Bredenoord AJ. Efficacy and safety of pneumatic dilation in achalasia: a systematic review and meta-analysis. Neurogastroenterol Motil. 2019 Jul. 31(7):e13548. [QxMD MEDLINE Link]. [Full Text].
Boeckxstaens GE, Annese V, des Varannes SB, et al. Pneumatic dilation versus laparoscopic Heller's myotomy for idiopathic achalasia. N Engl J Med. 2011 May 12. 364(19):1807-16. [QxMD MEDLINE Link].
Patti MG, Arcerito M, De Pinto M, et al. Comparison of thoracoscopic and laparoscopic Heller myotomy for achalasia. J Gastrointest Surg. 1998 Nov-Dec. 2(6):561-6. [QxMD MEDLINE Link].
Inoue H, Minami H, Kobayashi Y, et al. Peroral endoscopic myotomy (POEM) for esophageal achalasia. Endoscopy. 2010 Apr. 42(4):265-71. [QxMD MEDLINE Link].
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. [QxMD MEDLINE Link].
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. [QxMD MEDLINE Link].
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. [QxMD MEDLINE Link].
Eckardt VF, Aignherr C, Bernhard G. Predictors of outcome in patients with achalasia treated by pneumatic dilation. Gastroenterology. 1992 Dec. 103(6):1732-8. [QxMD MEDLINE Link].
Hunter JG, Trus TL, Branum GD, Waring JP. Laparoscopic Heller myotomy and fundoplication for achalasia. Ann Surg. 1997 Jun. 225(6):655-64; discussion 664-5. [QxMD MEDLINE Link].
Patti MG, Fisichella PM, Perretta S, et al. Impact of minimally invasive surgery on the treatment of esophageal achalasia: a decade of change. J Am Coll Surg. 2003 May. 196(5):698-703; discussion 703-5. [QxMD MEDLINE Link].
Richards WO, Torquati A, Holzman MD, et al. Heller myotomy versus Heller myotomy with Dor fundoplication for achalasia: a prospective randomized double-blind clinical trial. Ann Surg. 2004 Sep. 240(3):405-12; discussion 412-5. [QxMD MEDLINE Link].
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. 2006 Mar. 20(3):389-93. [QxMD MEDLINE Link].
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: long-term results. Ann Surg. 2008 Dec. 248(6):1023-30. [QxMD MEDLINE Link].
Rawlings A, Soper NJ, Oelschlager B, et al. Laparoscopic Dor versus Toupet fundoplication following Heller myotomy for achalasia: results of a multicenter, prospective, randomized-controlled trial. Surg Endosc. 2012 Jan. 26(1):18-26. [QxMD MEDLINE Link].
Patti MG, Herbella FA. Fundoplication after laparoscopic Heller myotomy for esophageal achalasia: what type?. J Gastrointest Surg. 2010 Sep. 14(9):1453-8. [QxMD MEDLINE Link].
Rohof WO, Salvador R, Annese V, et al. Outcomes of treatment for achalasia depend on manometric subtype. Gastroenterology. 2013 Apr. 144(4):718-25; quiz e13-4. [QxMD MEDLINE Link].
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. [QxMD MEDLINE Link].
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. 2011 May. 25(5):1466-71. [QxMD MEDLINE Link].
Sweet MP, Nipomnick I, Gasper WJ, et al. The outcome of laparoscopic Heller myotomy for achalasia is not influenced by the degree of esophageal dilatation. J Gastrointest Surg. 2008 Jan. 12(1):159-65. [QxMD MEDLINE Link].
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. 2009 Dec. 23(12):2644-9. [QxMD MEDLINE Link].
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. 1995 Jun. 130(6):609-15; discussion 615-6. [QxMD MEDLINE Link].
West RL, Hirsch DP, Bartelsman JF, et al. Long term results of pneumatic dilation in achalasia followed for more than 5 years. Am J Gastroenterol. 2002 Jun. 97(6):1346-51. [QxMD MEDLINE Link].
Patti MG, Feo CV, Arcerito M, et al. Effects of previous treatment on results of laparoscopic Heller myotomy for achalasia. Dig Dis Sci. 1999 Nov. 44(11):2270-6. [QxMD MEDLINE Link].
Smith CD, Stival A, Howell DL, Swafford V. Endoscopic therapy for achalasia before Heller myotomy results in worse outcomes than Heller myotomy alone. Ann Surg. 2006 May. 243(5):579-84; discussion 584-6. [QxMD MEDLINE Link].
Katz PO, Gilbert J, Castell DO. Pneumatic dilatation is effective long-term treatment for achalasia. Dig Dis Sci. 1998 Sep. 43(9):1973-7. [QxMD MEDLINE Link].
Eckardt VF, Gockel I, Bernhard G. Pneumatic dilation for achalasia: late results of a prospective follow up investigation. Gut. 2004 May. 53(5):629-33. [QxMD MEDLINE Link].
Hungness ES, Teitelbaum EN, Santos BF, et al. Comparison of perioperative outcomes between peroral esophageal myotomy (POEM) and laparoscopic Heller myotomy. J Gastrointest Surg. 2013 Feb. 17(2):228-35. [QxMD MEDLINE Link].
Gelfond M, Rozen P, Gilat T. Isosorbide dinitrate and nifedipine treatment of achalasia: a clinical, manometric and radionuclide evaluation. Gastroenterology. 1982 Nov. 83(5):963-9. [QxMD MEDLINE Link].
Hand L. Achalasia: New guidelines address diagnosis, treatment. Medscape Medical News. August 1, 2013. Available at http://www.medscape.com/viewarticle/808810. Accessed: October 22, 2014.
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. 2009 Jul. 44(7):1349-54. [QxMD MEDLINE Link].
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. [QxMD MEDLINE Link].
Miller HJ, Neupane R, Fayezizadeh M, Majumder A, Marks JM. POEM is a cost-effective procedure: cost-utility analysis of endoscopic and surgical treatment options in the management of achalasia. Surg Endosc. 2017 Apr. 31(4):1636-42. [QxMD MEDLINE Link].
Schneider AM, Louie BE, Warren HF, Farivar AS, Schembre DB, Aye RW. A matched comparison of per oral endoscopic myotomy to laparoscopic Heller myotomy in the treatment of achalasia. J Gastrointest Surg. 2016 Nov. 20(11):1789-96. [QxMD MEDLINE Link].
Uppal DS, Wang AY. Update on the endoscopic treatments for achalasia. World J Gastroenterol. 2016 Oct 21. 22(39):8670-83. [QxMD MEDLINE Link]. [Full Text].
Kahrilas PJ, Bredenoord AJ, Fox M, et al, for the International High Resolution Manometry Working Group. The Chicago Classification of esophageal motility disorders, v3.0. Neurogastroenterol Motil. 2015 Feb. 27(2):160-74. [QxMD MEDLINE Link]. [Full Text].

Media Gallery

Achalasia. Barium swallow demonstrating the bird-beak appearance of the lower esophagus, dilatation of the esophagus, and stasis of barium in the esophagus.
Achalasia. Manometric evaluation of the esophagus in a patient with achalasia. Pertinent findings include absence of propulsive peristalsis in the body of the esophagus (note simultaneous contractions), elevated resting lower esophageal sphincter (LES) pressure, and the absence of LES relaxation.
Achalasia. Heller myotomy extending 1.5 cm onto the gastric wall.
Achalasia. Dor fundoplication, left row of sutures (after division of short gastric vessels).
Achalasia. Completed Dor fundoplication.
Achalasia. High-resolution manometry of patient with achalasia type I. Top one third (in purple) represents fluid-filled esophagus by impedance, with incomplete emptying between swallows. Below this, upper horizontal dark-red band represents upper esophageal sphincter; orange band at bottom with interspersed dark-red areas represents lower esophageal sphincter. In between these two bands, it can be noted that there is no panesophageal pressurization and no peristalsis in the esophageal body. Image courtesy of R Matthew Gideon, Albert Einstein Medical Center.
Achalasia. High-resolution manometry of patient with achalasia type II. Top one third (in purple) represents fluid-filled esophagus by impedance. Bottom two thirds (in orange) represents pressurized esophagus. Dark-red band at top of orange area represents upper esophageal sphincter (UES); dark-red band at bottom represents lower esophageal sphincter (LES). Note isobaric simultaneous contractions and elevated intraesophageal pressure (orange area) along with impaired LES relaxation (high resting pressure and incomplete relaxation). Image courtesy of R Matthew Gideon, Albert Einstein Medical Center.
Achalasia. High-resolution manometry of patient with achalasia type III. Top one third represents impedance portion of study. In bottom two thirds, in between orange horizontal bars representing upper and lower esophageal sphincters, vertical bands that represent esophageal body contractions can be seen. Note areas that are equivalent to spastic contraction, which can even obliterate esophageal lumen. Image courtesy of R Matthew Gideon, Albert Einstein Medical Center.