ACHALASIA OF THE

ESOPHAGUS
DEFINITION - EPIDEMIOLOGY - ETIOLOGY

• Achalasia is a primary motor disorder of the esophagus

characterized by insufficient LES relaxation and loss of
esophageal peristalsis

• Rare, the incidence is 6/100.000 persons/year

Usually presenting between age 25 and 60, with a
predilection to affect young women
• first clinically recognized esophageal ACHALASIA
motility disorder
• described in 1672, treated with whale
bone bougie
• term coined in 1929
• dual disorder
• LES fails to appropriately relax
• resistance to flow into stomach
• not spasm of LES but an increased
basal LES pressure often seen (55-
90%)
• loss of peristalsis in distal 2/3
esophagus
 ETIOLOGY
• Idiopathic
• Autoimmune disorder – immune-mediated inflammatory disease
• Secondary achalasia  Chagas disease
• Pseudoachalasia  malignancy, infiltrative disorders, diabetes, and other causes

Reference:
Floch, M. H., & Netter, F. H. (2010). Netter's gastroenterology. Philadelphia, PA: Saunders/Elsevier.
Maingot, R., Zinner, M., & Ashley, S. W. (2013). Maingot's abdominal operations (12th ed.). New York: McGraw-Hill Medical.
Esophageal Anatomy

Upper Esophageal
Sphincter (UES)

Esophageal Body 18 to 24 cm
(cervical & thoracic)

Lower Esophageal
Sphincter (LES)
Reference:
Pandolfino, J. E., & Gawron, A. J. (2015). Achalasia. JAMA,
313(18), 1841. doi:10.1001/jama.2015.2996 
 NORMAL PHASES OF
SWALLOWING
• Voluntary
• oropharyngeal phase – bolus is voluntarily moved into the pharynx
• Involuntary
• UES relaxation
• peristalsis (aboral movement)
• LES relaxation
• Between swallows
• UES prevents air entering the esophagus during inspiration and prevents esophagopharyngeal reflux
• LES prevents gastroesophageal reflux
• peristaltic and non-peristaltic contractions in response to stimuli
• capacity for retrograde movement (belch, vomiting) and decompression
 PATHOPHYSIOLOGY

Autoimmune inflammatory myenteric plexus

disease reaction inflammation

indolent viral slow destruction degeneration or

infection (herpes, of ganglion cells dysfunction of
measles) inhibitory
postganglionic
neurons

Reference:
Pandolfino, J. E., & Gawron, A. J. (2015). Achalasia. JAMA, 313(18), 1841. doi:10.1001/jama.2015.2996 
 PATHOGENESIS

Imbalance between
Nitric oxide and Longitudinal muscle
excitatory and Impaired relaxation Rapidly propagated
vasoactive intestinal Hypercontractility of contractions and
inhibitory control of of the lower contractions in the
peptide the distal esophagus esophageal
the sphincter and esophageal sphincter distal esophagus.
(neurotransmitter) shortening
adjacent esophagus

Reference:
Pandolfino, J. E., & Gawron, A. J. (2015). Achalasia. JAMA, 313(18), 1841. doi:10.1001/jama.2015.2996 
 DIAGNOSIS
SYMPTOMATOLOGY
• Dysphagia
• Regurgitation
• Substernal chest pain
• Weight loss
• Heartburn
• Nocturnal coughing
• …
 Symptoms at presentation may have persisted for months to years
 Patients adapt their lifestyle to accommodate the inconveniences
that accompany this disease
 DIAGNOSIS SYMPTOMATOLOGY

• Dysphagia

 > 90%

 Gradual, progressive dysphagia for solids and liquids

 Progresses slowly during years

DIAGNOSIS
SYMPTOMATOLOGY

• Regurgitation

 76–91%

 Regurgitation of undigested food may occur during meals or

up to several hours later
 DIAGNOSIS SYMPTOMATOLOGY

• Substernal chest pain

 50%

 Unrelated to meals or exercise and may last up to hours

 Predominantly present in patients with type III achalasia

DIAGNOSIS SYMPTOMATOLOGY

• Weight loss

 35–91%

 Because of poor esophageal emptying and decreased or

modified food intake

 Usually minimal some patients are obese

 DIAGNOSIS SYMPTOMATOLOGY

• Heartburn
 Production of lactic acid from retained food or exogenous
ingested acidic materials such as carbonated drinks

• Nocturnal coughing, nocturnal regurgitation

 Substantial stasis of large amounts of food and secretions

 Substernal discomfort or fullness may be noted after eating

 Physical examination is unhelpful
DIAGNOSIS
SYMPTOMATOL
OGY

Eckardt score
 DIAGNOSIS RADIOLOGY

Barium esophagogram

• Dilated esophagus

• An air-fluid level

• The classic bird’s beak appearance

• Absence of a gastric air bubble

DIAGNOSIS RADIOLOGY
 ENDOSCOPY –
ESOPHAGOGASTRODUODENOSCOPY (EGD)
• Evaluating the mucosa for evidence of esophagitis or cancer to
rules out benign strictures or malignancy

• Reveal a dilated esophagus with retained food and increased

resistance at the gastroesophageal junction

• Intubation of the stomach through the EGJ may be associated

with mild resistance; however, stronger resistance should
prompt an evaluation for pseudoachalasia with further imaging
ENDOSCOPY –
ESOPHAGOGASTRODUODENOSCOPY (EGD)
Pseudoachalasia
• When these symptoms are caused by malignancy, the syndrome
is referred to as pseudoachalasia
• Accounts for up to 5% of suspected cases
Achalasia Pseudoachalasia
between age 25 and 60 advanced age
persisted for months to years abrupt onset of symptoms (<1 year)
weight loss weight loss #
dysphagia for solids then liquids or uniquely
dysphagia for solids and liquids solid food dysphagia
 DIAGNOSIS
MANOMETRY - “GOLD STANDARD” TEST
 DIAGNOSIS
MANOMETRY
DIAGNOSIS

MANOMET
RY
ACHALASIA
COMPLICATI
ON
• Aspiration can become life-threatening, pneumonia, lung
abscess, and bronchiectasis often result from long-standing
achalasia

• Esophagitis

• Esophageal adenocarcinoma
 TREATMENT
• Achalasia is a chronic condition without cure

• The goals in treating achalasia:

 Relieve patient ’s symptoms

 Improve esophageal emptying
 Prevent further dilation of the esophagus

• Surgical and nonsurgical treatment options

 TREATMENT – ORAL PHARMACOLOGIC THERAPY

• Calcium channel blockers and long-acting nitrates

• Transiently reduce LES pressure by smooth muscle relaxation, facilitating

esophageal emptying
TREATMENT
PHARMACOLOGIC THERAPY VIA
ENDOSCOPY
• Endoscopic injection of botulinum toxin (Botox®) directly into
the LES

• Blocks acetylcholine release

→ Revenges smooth muscle contraction
→ Effectively relaxes the LES

• With repeated treatments, Botox may offer symptomatic relief

for years, but symptoms recur more than 50% of the time
within 6 months
TREATMENT
PHARMACOLOGIC THERAPY VIA
ENDOSCOPY

SAGES Guidelines

• Botulinum toxin can be administered safely, but its effectiveness

is limited especially in the long term

• Reserved for poor candidates for other more effective

treatment options such as surgery or dilation
TREATMENT
PHARMACOLOGIC THERAPY VIA
ENDOSCOPY
TREATMENT PNEUMATIC DILATION (PD)

• The most effective nonsurgical option

• Tears the LES by forceful stretching with air-filled balloons

• Under fluoroscopic guidance, the balloon is positioned across

the LES and gradually inflated until the waist is flattened

• A risk of esophageal perforation of less than 4%

TREATMENT PNEUMATIC DILATION
TREATMENT SURGICAL MYOTOMY

• When performed adequately (i.e., reducing sphincter pressure to <10 mmHg),

and done early in the course of disease, LES myotomy results in symptomatic
improvement with the occasional return of esophageal peristalsis
 TREATMENT
MYOTOMY OF THE LES (HELLER
MYOTOMY)
• Surgical myotomy of the muscle layer of the distal esophagus and LES
 TREATMENT
MYOTOMY OF THE LES (HELLER
MYOTOMY)
 TREATMENT
PERORAL ENDOSCOPIC MYOTOMY
(POEM)
 TREATMENT
PERORAL ENDOSCOPIC MYOTOMY
(POEM)
 TREATMENT
ESOPHAGECTOMY

• Is considered in any symptomatic patient with a tortuous

esophagus (megaesophagus), sigmoid esophagus, failure of more
than one myotomy, or reflux stricture that is not amenable to
dilation

• Definitively treating the end-stage achalasia patient

• Eliminates the risk for carcinoma in the resected area

 REFERENCES
1. Jonathan D. Spicer, Rajeev Dhupar, Jae Y. Kim, Boris Sepesi, Wayne Hofstetter. Esophagus.
In Sabiston textbook of surgery 20th edition, 2017: 1013-42.
2. Blair A. Jobe, John G. Hunter, and David I. Watson. Esophagus and Diaphragmatic Hernia.
In Schwartz’s Principles of Surgery 10th edition, 2015: 941-1024.
3. Peter J. Kahrilas, Ikuo Hirano. Diseases of the Esophagus. In Harrison principles of internal
medicine 19th edition, 2015: 1900-11.
4. John E. Hall, Ph.D., arthur C. Guyton Professor and Chair. Gastrointestinal Physiology. In
Guyton and Hall textbook of medical physiology 12th edition, 2011: 753-805.
5. Kahrilas PJ, Bredenoord AJ, Fox M, Gyawali CP, Roman S, Smout AJ, Pandolfino JE;
International High Resolution Manometry Working Group, 2014. The Chicago Classification
of esophageal motility disorders v3.0.
6. Dimitrios Stefanidis, William Richardson, Timothy M. Farrell, Geoffrey P. Kohn, Vedra
Augenstein, Robert D. Fanelli, 2011. SAGES guidelines for the surgical treatment of
esophageal achalasia.
THANK YOU