Introduction

Achalasia is an esophageal motility disorder characterised by the absence of distal esophageal peristalsis
and a defective swallow-induced relaxation of the lower oesophageal sphincter (LOS). (Boeckxstaens GE,
Zaninotto G, Richter JE. Achalasia. Lancet 2014;383:83–93). The term “achalasia” is derived from the
Greek khalasis, translated as “not loosening or relaxing.” (Pandolfino J, Gawron A, Achalasia A
systematic Review, JAMA 2015). Currently, it has annual mean incidences of 0.3–1.63 per 100 000
people per year and prevalence of 10 per 100 000 adults worldwide. (Sadowski DC, Ackah F, Jiang B, et
al. Achalasia: incidence, prevalence and survival. A population-based study. Neurogastroenterol Motil
2010; 22: e256–61). It’s frequency is independent of sex or race (Enestvedt BK, Williams JL, Sonnenberg
A. Epidemiology and practice patterns of achalasia in a large multi-centre database. Aliment Pharmacol
Ther 2011; 33: 1209–14) but incidence increases with age (mean age at diagnosis is 50 years) (Farrukh A,
DeCaestecker J, Mayberry JF. An epidemiological study of achalasia among the south Asian population of
Leicester, 1986–2005. Dysphagia 2008; 23: 161–64.). Compared with the general population, the
condition significantly affects patients’ quality of life although the incidence is low (Nenshi R, Takata J,
Stegienko S, et al. The cost of achalasia: quantifying the effect of symptomatic disease on patient cost
burden, treatment time, and work productivity. Surg Innov. 2010;17(4):291).

The esophagogastric junction (EGJ) is a high-pressure zone comprising the lower esophageal sphincter
(LES, a 2- to 4-cm thickened circular smooth muscle layer), the crural diaphragm, and proximal gastric
cardia. Normal resting LES tone is 10 to 30 mm Hg, which helps prevent reflux of gastric contents back
into the esophagus. Relaxation of the lower esophageal sphincter to allow emptying of the esophagus is
triggered by swallowing or esophageal distention mediated by both peripheral and central mechanisms.
(Pandolfino J, Gawron A, Achalasia A systematic Review, JAMA 2015). The inhibitory neurons are
activated first, the preganglionic neurons from the caudal dorsal motor neuron release nitric oxide to
promote deglutitive inhibition. This is followed by sequential activation of excitatory neurons, which
releases acetylcholine in response to activation by preganglionic neurons arising from the rostral dorsal
motor nucleus. The direction and rate of propagation is modulated by the increasing inhibitory influence
in the distal esophagus, called the latency gradient. (Vanek AW, Diamant NE. Responses of the human
esophagus to paired swallows. Gastroenterology. 1987;92(3):643-650). The pathogenesis of achalasia
can be conceptualized as a disruption of the balance between the regional excitatory and inhibitory
response elicited along the axial location of the esophageal body. (Wörl J, Neuhuber WL. Enteric co-
innervation of motor endplates in the esophagus: state of the art ten years after. Histochem Cell Biol.
2005;123(2): 117-130.) This is associated with functional loss of myenteric plexus ganglion cells in the
distal esophagus and lower esophageal sphincter. The cause is unknown. (Goldblum JR, Whyte RI,
Orringer MB, Appelman HD. Achalasia: a morphologic study of 42 resected specimens. Am J Surg Pathol.
1994;18(4): 327-337) It may be an autoimmune process, because the prevalence of serum neural
autoantibodies is high ( Kraichely RE, Farrugia G, Pittock SJ, Castell DO, Lennon VA. Neural autoantibody
profile of primary achalasia. Dig Dis Sci. 2010;55(2):307-311), patients are more likely to have
concomitant autoimmune diseases than the general population (Booy JD, Takata J, Tomlinson G, Urbach
DR. The prevalence of autoimmune disease in patients with esophageal achalasia. Dis Esophagus.
2012;25 (3):209-213), and it’s been proposed the it may be triggered by an indolent viral infection
(herpes, measles) (Boeckxstaens GE. Achalasia: virus-induced euthanasia of neurons? Am J
Gastroenterol. 2008; 103(7):1610-1612.).
It is an incurable disease with the classic presentation of dysphagia to solids and liquids associated with
regurgitation of bland undigested food or saliva (Vaezi MF , Richter JE . Diagnosis and management of
achalasia. American College of Gastroenterology Practice Parameter Committee . Am J Gastroenterol
1999 ; 94 : 3406 – 12 .). The stasis of ingested food leads to substernal chest pain during meals, weight
loss, heartburn and even respiratory symptoms (nocturnal cough, recurrent aspiration, and pneumonia).
This often leads to misdiagnosis of achalasia erroneously as gastroesophageal reflux disease (GERD)
(Richter JE . Th e diagnosis and misdiagnosis of Achalasia: it does not have to be so difficult . Clin
Gastroenterol Hepatol 2011 ; 9 : 1010 – 1 .). Achalasia must be suspected in those with dysphagia to
solids and liquids and in those with regurgitation unresponsive to an adequate trial of PPI therapy (Vaezi
M, Pandolfino J, Vela M. ACG Clinical Guideline: Diagnosis and Management of Achalasia 2013.). By
definition, a manometry is essential in the diagnosis. Barium esophagram (dilated esophagus and distal
"bird's beak" narrowing) and esophagogastroduodenoscopy (EGD, with visible undigested food) are
complementary tests. (Vaezi M, Pandolfino J, Vela M. ACG Clinical Guideline: Diagnosis and
Management of Achalasia 2013.). High-resolution manometry is the test of choice for the diagnosis of
achalasia. The high-resolution manometry (HRM) measures intraluminal pressure activity through
pressure sensors at 1 cm intervals with either a water-perfused extrusion or various solid-state
technologies. The pressure measurements need to account for LES movement secondary to deglutitive
longitudinal muscle shortening. Esophageal pressure topography (Clouse RE , Staiano A . Topography of
the esophageal peristaltic pressure wave . Am J Physiol 1991 ; 261 (4 Part 1) : G677 – 84) has allowed for
the differentiation of achalasia into three subtypes or variants with potential treatment outcome
implications. Achalasia is diagnosed on high-resolution manometry by an elevated median integrated
relaxation pressure (IRP), which indicates impaired EGJ relaxation and absence of normal peristalsis. The
IRP is the median of the maximal relaxation pressures of the EGJ in four seconds during the 10-second
window of EGJ relaxation that follows a swallow. The upper limit of normal median IRP value varies
among manometry systems; for the most widely used system at this time, an integrated median IRP is
defined as ≥15 mmHg. The Chicago Classification 3.0 (CC-3) is a useful tool to define the clinically
relevant phenotypes of achalasia: Type 1 (classic achalasia): Swallowing results in no significant change
in esophageal pressurization. It has 100% failed peristalsis with a distal contractile integral (DCI, an index
of the strength of distal esophageal contraction) <100 mmHg. Type 2: Swallowing results in
simultaneous pressurization that spans the entire length of the esophagus. It has 100% failed peristalsis
and pan-esophageal pressurization with ≥20% of swallows. Type 3 (spastic achalasia): Swallowing results
in abnormal, lumen-obliterating contractions or spasms. It has no normal peristalsis and premature
(spastic) contractions with DCI >450 mmH/s/cm with ≥20% of swallows. (Pandolfino JE , Kwiatek MA ,
Nealis T et al. Achalasia: a new clinically relevant classifi ation by high-resolution manometry .
Gastroenterology 2008 ; 135 : 1526 – 33).

Until now, cohort studies have shown that subtype II has the best prognosis, whereas classic achalasia is
somewhat lower and spastic achalasia might be refractory to treatment (Salvador R , Costantini M ,
Zaninotto G et al. Th e preoperative manometric pattern predicts the outcome of surgical treatment for
esophageal achalasia . J Gastrointest Surg 2010 ; 14 : 1635 – 45) (Pratap N , Reddy DN . Can achalasia
subtyping by high-resolution manometry predict the therapeutic outcome of pneumatic balloon
dilatation?: author’s reply . J Neurogastroenterol Motil 2011 ; 17 : 205). Currently, treatment consists of
disruption of the LES, classically either by endoscopic pneumatic dilation or laparoscopic Heller’s
myotomy (LHM) combined with an antireflux procedure (Dor or Tupet fundoplication). Since its
introduction, LHM is increasingly advocated as the treatment of choice based on multiple studies
reporting short-term success rates >90%.(Oelschlager BK, Chang L, Pellegrini CA. Improved outcome
after extended gastric myotomy for achalasia. Arch Surg 2003;138:490–5) (Perrone JM, Frisella MM,
Desai KM, et al. Results of laparoscopic Heller-Toupet operation for achalasia. Surg Endosc
2004;18:1565–71) (Rossetti G, Brusciano L, Amato G, et al. A total fundoplication is not an obstacle to
esophageal emptying after Heller Myotomy for Achalasia: results of a long-term follow up. Ann Surg
2005;241:614–21) (Schuchert MJ, Luketich JD, Landreneau RJ, et al. Minimally-invasive
esophagomyotomy in 200 consecutive patients: factors influencing postoperative outcomes. Ann Thorac
Surg 2008;85:1729–34)