Present insight on achalasia – from diagnosis to treatment
More details
Hide details
2nd Department of General & Gastrointestinal Surgery and Surgical Oncology of the Alimentary Tract, Medical University in Lublin, Poland
Corresponding author
Jacek Dziedzic   

2nd Department of General & Gastrointestinal Surgery and Surgical Oncology of the Alimentary Tract, Staszica 16, 20-081, Lublin, Poland
J Pre Clin Clin Res. 2019;13(2):92-98
Achalasia is a most frequent primary motility disorder of the oesophagus with the prevalence of 10/100,000 individuals, with no gender predominance. Due to its rare occurrence, at the early stages may be erroneously diagnosed, leading to progression of disease and delayed treatment.

The main aim of the review is to depict current data about achalasia, including pathogenesis, diagnosis, and possible treatment modalities, particularly the latest, minimally invasive technique: per-oral endoscopic myotomy (POEM).

State of knowledge.:
The ethology of achalasia remains unknown, although autoimmune, viral or neurodegenerative causes may be considered triggers of the disease. In some cases, achalasia may be secondary to other conditions (e.g. malignancy, Chagas disease). Typical symptoms of achalasia are dysphagia (for both liquids and solids), regurgitations, heartburn and mweight loss. The diagnosis is based on endoscopy, oesophageal high-resolution manometry (HRM) and X-ray with barium swallow. Therapies used in the treatment of achalasia focus on improving food passage by reducing LES pressure. These procedures include pharmacologic treatment, pneumatic balloon dilation, Heller myotomy and endoscopic myotomy. POEM was first introduced in humans by Inoue in 2008. Recent studies have revealed excellent short-term outcome of POEM with no serious complications

Achalasia is an incurable disease; however, available therapies can effectively reduce patients` symptoms. Further evaluation may lead to the establishment of tailored-to- patient treatment, and it is believed that POEM will become a gold standard for treatment of achalasia.

Patel DA, Kim HP, Zifodya JS, Vaezi MF. Idiopathic (primary) achalasia: a review. Orphanet J Rare Dis.
Wangensteen OH. A physiologic operation for mega-oesophagus: (dystonia, cardiospasm, achalasia). Ann Surg. 1951; 134(3): 301–318.
Birgisson S, Richter JE. Achalasia: what’s new in diagnosis and treatment? Dig Dis. 1997; 15 Suppl 1: 1–27.
Creamer B, Ellis FH, Olsen AM. Cardiospasm (achalasia of the cardia). Am J Surg. 1957; 93(2): 299–307.
Sadowski DC, Ackah F, Jiang B, Svenson LW. Achalasia: incidence, prevalence and survival. A population-based study. Neurogastroenterol Motil. 2010; 22(9): e256-e261.
Vaezi MF, Pandolfino JE, Vela MF. ACG clinical guideline: diagnosis and management of achalasia. Am J Gastroenterol. 2013; 108(8): 1238–49.
Torresan F, Ioannou A, Azzaroli F, Bazzoli F. Treatment of achalasia in the era of high-resolution manometry. Annals of gastroenterology. 2015; 28(3): 301–308.
Samo S, Carlson DA, Gregory DL, Gawel SH, Pandolfino JE, Kahrilas PJ. Incidence and Prevalence of Achalasia in Central Chicago, 2004– 2014, Since the Widespread Use of High-Resolution Manometry. Clin Gastroenterol Hepatol. 2017; 15(3): 366–373.
Chedid V, Rosenblatt E, Gandhi KK, Dhalla S, Nandwani MC, Stein EM, et al. The Effect of Race in Patients with Achalasia Diagnosed With High-Resolution Oesophageal Manometry. Am J Med Sci. 2018; 355(2): 126–131.
Francis DL, Katzka DA. Achalasia: update on the disease and its treatment. Gastroenterology. 2010; 139(2): 369–374.
Goyal RK, Chaudhury A. Physiology of normal oesophageal motility. J Clin Gastroenterol. 2008; 42(5): 610–619.
Park W, Vaezi MF. Etiology and pathogenesis of achalasia: the current understanding. Am J Gastroenterol. 2005; 100(6): 1404–1414.
Pandolfino JE, Gawron AJ. Achalasia: a systematic review. JAMA. 2015; 313(18): 1841–1852.
Villanacci V, Annese V, Cuttitta A, Fisogni S, Scaramuzzi G, De Santo E, et al. An immunohistochemical study of the myenteric plexus in idiopathic achalasia. J Clin Gastroenterol. 2010; 44(6): 407–410.
Kahrilas PJ, Boeckxstaens G. The spectrum of achalasia: lessons from studies of pathophysiology and high-resolution manometry. Gastroenterology. 2013; 145(5): 954–65.
Bosher LP, Shaw A. Achalasia in siblings. Clinical and genetic aspects. Am J Dis Child. 1981; 135(8): 709–710.
Stein DT, Knauer CM. Achalasia in monozygotic twins. Dig Dis Sci. 1982; 27(7): 636–640.
Shteyer E, Edvardson S, Wynia-Smith SL, Pierri CL, Zangen T, Hashavya S, et al. Truncating mutation in the nitric oxide synthase 1 gene is associated with infantile achalasia. Gastroenterology. 2015; 148(3): 533–536.e4.
Paladini F, Cocco E, Cascino I, Belfiore F, Badiali D, Piretta L, et al. Agedependent association of idiopathic achalasia with vasoactive intestinal peptide receptor 1 gene. Neurogastroenterol Motil. 2009; 21(6): 597–602.
de León AR, de la Serna JP, Santiago JL, Sevilla C, Fernández-Arquero M, de la Concha EG, et al. Association between idiopathic achalasia and IL23R gene. Neurogastroenterol Motil. 2010; 22(7): 734–8, e218.
Nuñez C, García-González MA, Santiago JL, Benito MS, Mearín F, de la Concha EG, et al. Association of IL10 promoter polymorphisms with idiopathic achalasia. Hum Immunol. 2011; 72(9): 749–752.
Evsyutina YV, Trukhmanov AS, Ivashkin VT. Family case of achalasia cardia: case report and review of literature. World journal of gastroenterology. 2014; 20(4): 1114–1118.
Latiano A, Palmieri O, Bossa F, Latiano T, Corritore G, De Santo E, et al. Impact of genetic polymorphisms on the pathogenesis of idiopathic achalasia: Association with IL33 gene variant. Hum Immunol. 2014; 75(4): 364–369.
Santiago JL, Martínez A, Benito MS, Ruiz de León A, Mendoza JL, Fernández-Arquero M, et al. Gender-specific association of the PTPN22 C1858T polymorphism with achalasia. Hum Immunol. 2007; 68(10): 867–870.
Kurnaz E, Duminuco P, Aycan Z, Savaş-Erdeve Ş, Muratoğlu Şahin N, Keskin M, et al. Clinical and genetic characterisation of a series of patients with triple A syndrome. Eur J Pediatr. 2018; 177(3): 363–369.
Ghoshal UC, Daschakraborty SB, Singh R. Pathogenesis of achalasia cardia. World journal of gastroenterology. 2012; 18(24): 3050–3057.
Niwamoto H, Okamoto E, Fujimoto J, Takeuchi M, Furuyama J, Yamamoto Y. Are human herpes viruses or measles virus associated with oesophageal achalasia? Dig Dis Sci. 1995; 40(4): 859–864.
Vaezi MF, Richter JE. Diagnosis and management of achalasia. American College of Gastroenterology Practice Parameter Committee. Am J Gastroenterol. 1999; 94(12): 3406–3412.
Furuzawa-Carballeda J, Torres-Landa S, Valdovinos MÁ, Coss-Adame E, Martín Del Campo LA, Torres-Villalobos G. New insights into the pathophysiology of achalasia and implications for future treatment. World J Gastroenterol. 2016; 22(35): 7892–907.
Abubakar U, Bashir MB, Kesieme EB. Pseudoachalasia: A review. Niger J Clin Pract. 2016; 19(3): 303–307.
Ravi K, Sweetser S, Katzka DA. Pseudoachalasia secondary to bariatric surgery. Dis Oesophagus. 2016; 29(8): 992–995.
Gockel I, Eckardt VF, Schmitt T, Junginger T. Pseudoachalasia: a case series and analysis of the literature. Scand J Gastroenterol. 2005; 40(4): 378–385.
Sinan H, Tatum RP, Soares RV, Martin AV, Pellegrini CA, Oelschlager BK. Prevalence of respiratory symptoms in patients with achalasia. Dis Oesophagus. 2011; 24(4): 224–228.
Gupta M, Ghoshal UC, Jindal S, Misra A, Nath A, Saraswat VA. Respiratory dysfunction is common in patients with achalasia and improves after pneumatic dilation. Dig Dis Sci. 2014; 59(4): 744–752.
Eckardt VF, Köhne U, Junginger T, Westermeier T. Risk factors for diagnostic delay in achalasia. Dig Dis Sci. 1997; 42(3): 580–585.
Eckardt VF, Aignherr C, Bernhard G. Predictors of outcome in patients with achalasia treated by pneumatic dilation. Gastroenterology. 1992; 103: 1732–1738.
Dimitriu A, Gheorghe C. High Resolution Manometry – A Mandatory Examination in the Pre- and Postoperative Assessment of Patients with Achalasia. Chirurgia (Bucur). 2018; 113(1): 61–69.
Eckardt AJ, Eckardt VF. Current clinical approach to achalasia. World Journal of Gastroenterology. 2009; 15(32): 3969–3969.
Ates F, Vaezi MF. The Pathogenesis and Management of Achalasia: Current Status and Future Directions. Gut Liver. 2015; 9(4): 449–63.
de Borst JM, Wagtmans MJ, Fockens P, van Lanschot JJ, West R, Boeckxstaens GE. Pseudoachalasia caused by pancreatic carcinoma. Eur J Gastroenterol Hepatol. 2003; 15(7): 825–828.
Howard PJ, Maher L, Pryde A, Cameron EW, Heading RC. Five year prospective study of the incidence, clinical features, and diagnosis of achalasia in Edinburgh. Gut. 1992; 33(8): 1011–1015.
Minami H, Isomoto H, Miuma S, Kobayashi Y, Yamaguchi N, Urabe S, et al. New endoscopic indicator of oesophageal achalasia: “pinstripe pattern”. PLoS One. 2015; 10(2): e0101833. doi:10.1371/journal. pone.0101833.
Triadafilopoulos G, Boeckxstaens GE, Gullo R, Patti MG, Pandolfino JE, Kahrilas PJ, et al. The Kagoshima consensus on oesophageal achalasia. Dis Oesophagus. 2012; 25(4): 337–348.
Carlson DA, Pandolfino JE. High-Resolution Manometry in Clinical Practice. Gastroenterol & Hepatol (N Y). 2015; 11(6): 374–384.
Kahrilas PJ, Bredenoord AJ, Fox M, Gyawali CP, Roman S, Smout AJPM, et al. International High Resolution Manometry Working Group: The Chicago Classification of oesophageal motility disorders, v3.0. Neurogastroenterol Motil. 2015; 27(2): 160–174.
Scherer JR, Kwiatek MA, Soper NJ, Pandolfino JE, Kahrilas PJ. Functional esophagogastric junction obstruction with intact peristalsis: a heterogeneous syndrome sometimes akin to achalasia. J Gastrointest Surg. 2009; 13(12): 2219–2225.
Fox M, Sweis R. Future directions in oesophageal motility and function – new technology and methodology. Neurogastroenterol Motil. 2012; 24: 48–56. doi:10.1111/j.1365–2982.2011.01835.x.
Borhan-Manesh F, Kaviani MJ, Taghavi AR. The efficacy of balloon dilation in achalasia is the result of stretching of the lower oesophageal sphincter, not muscular disruption. Dis oesophagus. 2016; 29(3): 262– 266.
Shah SWH, Butt AK, Malik K, Alam A, Khan AA. Pneumatic Balloon Dilatation for Achalasia Cardia; Early & late results, a single center study. Pak J Med Sci. 2017; 33(5): 1053–1058.
Richter JE. Update on the management of achalasia: balloons, surgery and drugs. Expert Rev Gastroenterol Hepatol. 2008; 2(3): 435–445.
Vela MF, Richter JE, Khandwala F, Blackstone EH, Wachsberger D, Baker ME, et al. The long-term efficacy of pneumatic dilatation and Heller myotomy for the treatment of achalasia. Clin Gastroenterol Hepatol. 2006; 4(5): 580–587.
Lynch KL, Pandolfino JE, Howden CW, Kahrilas PJ. Major complications of pneumatic dilation and Heller myotomy for achalasia: single-center experience and systematic review of the literature. Am J Gastroenterol. 2012; 107(12): 1817–1825.
Tefas C, Ababneh R, Tanţău M. Peroral Endoscopic Myotomy Versus Heller Myotomy for Achalasia: Pros and Cons. Chirurgia (Bucur). 2018; 113(2): 185–191.
Ali A, Pellegrini CA. Laparoscopic myotomy: technique and efficacy in treating achalasia. Gastrointest Endosc Clin N Am. 2001; 11(2): 347–58.
Campos GM, Vittinghoff E, Rabl C, Takata M, Gadenstätter M, Lin F, et al. Endoscopic and surgical treatments for achalasia: a systematic review and meta-analysis. Ann Surg. 2009; 249(1): 45–57.
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; 248(6): 1023–1030.
Anselmino M, Zaninotto G, Costantini M, Rossi M, Boccu C, Molena D, et al. One-year follow-up after laparoscopic Heller-Dor operation for oesophageal achalasia. Surg Endosc. 1997; 11(1): 3–7.
El Hak NG, Hamdy E, Abdalla T, Kandel T, El Raof AA, El Hemaly M, et al. Laparoscopic Heller myotomy for achalasia: analysis of successes and failures. Hepatogastroenterology. 2012; 59(117): 1450–1454.
Csendes A, Braghetto I, Burdiles P, Korn O, Csendes P, Henríquez A. Very late results of esophagomyotomy for patients with achalasia: clinical, endoscopic, histologic, manometric, and acid reflux studies in 67 patients for a mean follow-up of 190 months. Ann Surg. 2006; 243(2): 196–203.
Stefanidis D, Richardson W, Farrell TM, Kohn GP, Augenstein V, Fanelli RD. Society of American Gastrointestinal and Endoscopic Surgeons: SAGES guidelines for the surgical treatment of oesophageal achalasia. Surg Endosc. 2012; 26(2): 296–311.
Francis DL, Katzka DA. Achalasia: Update on the Disease and Its Treatment. Gastroenterology. 2010; 139(2): 369–375.
Inoue H, Minami H, Kobayashi Y, Sato Y, Kaga M, Suzuki M, et al. Peroral endoscopic myotomy (POEM) for oesophageal achalasia. Endoscopy. 2010; 42(4): 265–271.
Nabi Z, Ramchandani M, Chavan R, Kalapala R, Darisetty S, Rao G, et al. Per-oral endoscopic myotomy for achalasia cardia: outcomes in over 400 consecutive patients. Endosc Int Open. 2017; 05(05): E331-E339.
Marano L, Pallabazzer G, Solito B, Santi S, Pigazzi A, De Luca R, et al. Surgery or Peroral Oesophageal Myotomy for Achalasia: A Systematic Review and Meta-Analysis. Medicine (Baltimore). 2016; 95(10): e3001.
Khashab MA, Kumbhari V, Tieu AH, El Zein MH, Ismail A, Ngamruengphong S, et al. Peroral endoscopic myotomy achieves similar clinical response but incurs lesser charges compared to robotic heller myotomy. Saudi J Gastroenterol. 2017; 23(2): 91–96.
Talukdar R, Inoue H, Nageshwar Reddy D. Efficacy of peroral endoscopic myotomy (POEM) in the treatment of achalasia: a systematic review and meta-analysis. Surg Endosc. 2015; 29(11): 3030–3046.
Schlottmann F, Luckett DJ, Fine J, Shaheen NJ, Patti MG. Laparoscopic Heller Myotomy Versus Peroral Endoscopic Myotomy (POEM) for Achalasia: A Systematic Review and Meta-analysis. Ann Surg. 2018; 267(3): 451–460.
Triantafyllou T, Theodoropoulos C, Georgiou G. Long-term outcome of myotomy and fundoplication based on intraoperative real-time high-resolution manometry in achalasia patients. Ann Gastroenterol. 2018; 32(1): 46–51.
Sioulas AD, Malli C, Dimitriadis GD, Triantafyllou K. Self-expandable metal stents for achalasia: Thinking out of the box!. World J Gastrointest Endosc. 2015; 7(1): 45–52.
Journals System - logo
Scroll to top