The first case describes a 40-year-old man with progressive difficulty swallowing over 3 years. Tests show a dilated esophagus that fails to empty and a non-relaxing lower esophageal sphincter. The second case involves a 34-year-old with 9 months of swallowing issues and weight loss. The most likely diagnosis for both is achalasia, a disorder characterized by lack of esophageal peristalsis and failure of the lower esophageal sphincter to relax, causing food to get stuck in the esophagus.

1. TOPIC CLINICAL CASES

2. A 40-year old man complains of
increasing difficulty in swallowing
over the past 3 years. He reports a
feeling of pressure in his chest
occurring 2-3 seconds after
swallowing a solid bolus. He also
experiences regurgitation of
undigested food eaten hours
previously. A radiograph taken after
swallowing barium shows a distended
esophageal body with a smooth
tapering at the lower esophageal
sphincter LES. Manometry shows the
absence of esophageal peristalsis with
swallowing and a lower esophageal
sphincter that fails to relax. What is
the most likely diagnosis?
A 34-year-old bus driver presents with
complaints of difficulty swallowing. The
symptoms began gradually, approximately
9 months ago, and have prevented him
from chewing solids or drinking liquids
comfortably. He finds himself awakened at
night with cough and occasional morning
regurgitation of recognizable food from the
night before. He has learned to reduce his
oral intake and has lost 6 pounds over the
past 2 months. He does not smoke or drink
and has no family history of esophageal or
other gastrointestinal illnesses. His physical
examination is unremarkable. Which of the
following is the most likely diagnosis?

3. ACHALASIA
VU VAN SANG
Medical Student
Member at Trung Vuong surgery club

4. EMBRYOLOGY
The esophagus develops from
the foregut
At first, it is a short tube but it
elongates rapidly when the heart
and diaphragm descend

5. EMBRYOLOGY

6. ESOPHAGUS ANATOMY
OVERVIEW
• A flattened muscular tube
• About 18 to 26 cm in length
• Striated muscle in the upper part, smooth
muscle in the lower part, and a mixture of
the two in the middle
• The esophageal tube has neither mesentery
nor serosal coating

7. ESOPHAGUS ANATOMY
ANATOMICAL DIVISION
Classic anatomy:
• Cervical esophagus
• Thoracic esophagus
 Upper-thoracic
 Mid-thoracic
 Distal-thoracic
• Abdominal esophagus

8. ESOPHAGUS ANATOMY
ANATOMICAL DIVISION

9. ESOPHAGUS ANATOMY
ANATOMICAL DIVISION
Functional aspects:
• The esophageal body
• The upper esophageal sphincter UES
• The lower esophageal sphincter LES

10. ESOPHAGUS ANATOMY
ANATOMICAL DIVISION
The lower esophageal sphincter LES:
• 3 cm in length
• External
Diaphragmatic sphincter
Skeletal muscle of crural diaphragm
• Internal
Smooth muscle of distal esophagus

11. ESOPHAGUS ANATOMY
LYMPHATIC DRAINAGE - NERVE SUPPLY

12. ESOPHAGUS ANATOMY
MICROANATOMY
• Mucosa
 Epithelium
 lamina propria
 muscularis mucosae
• Submucosa
• Muscularis externa
• Adventitia

13. PHYSIOLOGY
ESOPHAGEAL FUNCTIONS
• Transport swallowed food into the stomach
• Prevent gastroesophageal reflux

14. PHYSIOLOGY
ESOPHAGEAL PERISTALSIS
ESOPHAGEAL STAGE OF SWALLOWING
Primary peristalsis
 Peristalsis in the striated muscle of the esophagus
 Continuation of the peristaltic wave that begins in the
pharynx and spreads into the esophagus during the
pharyngeal stage of swallowing

15. PHYSIOLOGY
ESOPHAGEAL PERISTALSIS
ESOPHAGEAL STAGE OF SWALLOWING
Secondary peristalsis
 Peristalsis in the smooth muscle of the esophagus
 Result from distention of the esophagus itself by the
retained food

16. PHYSIOLOGY
NERVE SUPPLY
the upper part
• Striated muscle
• Innervated by vagus nerve
• The cell bodies are located in
nucleus ambiguus
• The nerves terminate directly on
striated muscle cells with
cholinergic (nicotinic) receptors

17. PHYSIOLOGY
NERVE SUPPLY
the lower part
• Smooth muscle
• Vagus nerve carries preganglionic
fibers of neurons located in the
dorsal motor nucleus
• The vagal preganglionic fibers
innervate the LES smooth muscle via
the postganglionic myenteric
neurons

18. PHYSIOLOGY
NERVE SUPPLY
the lower part
Vagal postganglionic neurons
• Submucosal plexus – Meissner’s plexus
• Myenteric plexus – Auerbach’s plexus
• Excitatory
 Contracts the smooth muscle
 Releasing: Ach, …
• Inhibitory
 Dilates the smooth muscle
 Releasing: NO, VIP (vasoactive
intestinal polypeptide), …

19. PHYSIOLOGY
ESOPHAGEAL PERISTALSIS
ENTERIC NERVOUS SYSTEM

20. PHYSIOLOGY
LOWER ESOPHAGEAL SPHINCTER (LES)
 LES normally remains tonically
constricted with an intraluminal pressure
of about 30 mmHg
 The tonic constriction of the LES helps to
prevent significant reflux of stomach
contents into the esophagus

21. PHYSIOLOGY
LOWER ESOPHAGEAL SPHINCTER (LES)
Esophageal manometry:

22. PHYSIOLOGY
LOWER ESOPHAGEAL SPHINCTER (LES)
Esophageal manometry: conventional esophageal manometry

23. PHYSIOLOGY
LOWER ESOPHAGEAL SPHINCTER (LES)
Esophageal manometry: high-resolution manometry (HRM)
Esophageal pressure topography (EPT)

24. PATHOPHYSIOLOGICAL CLASSIFICATION OF
ESOPHAGEAL MOTILITY DISORDERS

25. OTHER CLASSIFICATION OF ESOPHAGEAL MOTILITY DISORDERS
Classic classification
• Primary disorders (motor disorders):
 Achalasia
 Diffuse esophageal spasm (DES)
 Nutcracker (jackhammer)
esophagus
 Hypertensive lower esophageal
sphincter (LES)
 Ineffective esophageal motility
(IEM)
• Secondary disorders:
 Scleroderma
 Dermatomyositis
 Polymyositis
 Lupus erythematosus
 Chagas disease
 Myasthenia gravis
The Chicago Classification of Esophageal Motility
• Achalasia and Esophagogastric Junction
Outflow Obstruction
 Type I achalasia (classic)
 Type II achalasia (with esophageal compression)
 Type III achalasia (spastic achalasia)
 Esophagogastric junction outflow obstruction
(achalasia in evolution)
• Major Disorders of Peristalsis
 Absent contractility
 Distal esophageal spasm
 Hypercontractile esophagus (jackhammer)
• Minor Disorders of Peristalsis
 Ineffective esophageal motility
 Fragmented peristalsis
 Normal esophageal motility

26. SURGICAL CLASSIFICATION OF
ESOPHAGEAL MOTILITY DISPORDERS
• Motility Disorders of the Esophageal Body
 Diffuse Esophageal Spasm
 Nutcracker Esophagus
• Motility Disorders of the Lower Esophageal Sphincter
 Hypertensive Lower Esophageal Sphincter
• Motility Disorders Affecting Both Body and Lower Esophageal
Sphincter
 Achalasia
 Ineffective Esophageal Motility

27. 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

28. DEFINITION - EPIDEMIOLOGY - ETIOLOGY
• Its pathogenesis is presumed to be idiopathic or infectious
neurogenic degeneration, such as:
 Severe emotional stress
 Trauma
 An autoimmune process attributable to a latent infection
with HSV 1
 Chagas disease (parasitic infection with Trypanosoma cruzi)
…

29. PATHOPHYSIOLOGY
• Progressive neuronal degeneration / damage in the
mesenteric plexus, which results in a nonrelaxing,
hypertensive lower esophageal sphincter (LES) and
aperistalsis of the body of the esophagus
• The cause of the neuronal degeneration is unknown

30. PHYSIOLOGY
NERVE SUPPLY
the lower part
Vagal postganglionic neurons
• Submucosal plexus – Meissner’s plexus
• Myenteric plexus – Auerbach’s plexus
• Excitatory
 Contracts the smooth muscle
 Releasing: Ach, …
• Inhibitory
 Dilates the smooth muscle
 Releasing: NO, VIP, …

31. 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

32. DIAGNOSIS
SYMPTOMATOLOGY
• Dysphagia
 > 90%
 Gradual, progressive dysphagia for solids and liquids
 Progresses slowly during years

33. DIAGNOSIS
SYMPTOMATOLOGY
• Regurgitation
 76–91%
 Regurgitation of undigested food may occur during meals or
up to several hours later

34. 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

35. DIAGNOSIS
SYMPTOMATOLOGY
• Weight loss
 35–91%
 Because of poor esophageal emptying and decreased or
modified food intake
 Usually minimal some patients are obese

36. 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

37. DIAGNOSIS
SYMPTOMATOLOGY
Eckardt score

38. DIAGNOSIS
RADIOLOGY
Barium esophagogram
• Dilated esophagus
• An air-fluid level
• The classic bird’s beak appearance
• Absence of a gastric air bubble

39. DIAGNOSIS
RADIOLOGY

40. 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

41. 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
• CT scanning or EUS may be of value
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 and liquids
dysphagia for solids then liquids or uniquely
solid food dysphagia

42. DIAGNOSIS
MANOMETRY - “GOLD STANDARD” TEST

43. MANOMETRY
PRESSURE TOPOGRAPHIC METRICS (INTRODUCE)
IRP – Integrated Relaxation Pressure (mmHg)
• Address issue: "Does the EGJ
(esophagogastric junction) relax
normally with swallowing?" or “Is
there abnormal resistance to bolus
movement across the EGJ?” to
evaluate EGJ function
• The upper limit of normal for IRP is
15 mmHg

44. MANOMETRY
PRESSURE TOPOGRAPHIC METRICS (INTRODUCE)
ICL – 20 mmHg isobaric contour line
• Address issue: “Is peristalsis present and if so is it a continuous
process?” to evaluate of esophageal motor function

45. MANOMETRY
PRESSURE TOPOGRAPHIC METRICS (INTRODUCE)
CDP – contractile deceleration point
• CDP is the time at which
esophageal peristalsis
terminates, and the LES
begins to descend to its
resting position

46. MANOMETRY
PRESSURE TOPOGRAPHIC METRICS (INTRODUCE)
CFV – contraction front velocity
• Be used to evaluate
propagation of esophageal
pressure waves
• CFV measures peristaltic
velocity in the smooth muscle
esophagus, normal: 9 cm/s

47. MANOMETRY
PRESSURE TOPOGRAPHIC METRICS (INTRODUCE)
DL – distal latency
• Be used to evaluate
propagation of esophageal
pressure waves
• Measures post deglititive
inhibition and adequacy of
inhibitory neuromuscular
function in the smooth muscle
esophagus, the lower limit of
normal for DL is 4.5 seconds

48. MANOMETRY
DCI – distal contractile integral (mmHg.s.cm)
• Measure of how robust peristalsis is in
the smooth muscle esophagus
• DCI is the amplitude × duration × length
(mmHg.s.cm) of the distal esophageal
contraction exceeding 20 mmHg from the
transition zone to the proximal margin of
the lower esophageal sphincter
• Hypercontraction: DCI < 8000
Normal contraction: 450 < DCI < 8000
Weak contraction: 100 < DCI < 450
Failed contraction: DCI < 100

49. MANOMETRY

50. DIAGNOSIS
MANOMETRY
• The LES is hypertensive, with pressures
usually higher than 35 mmHg (integrated
relaxation pressure >15 mmHg)
• The LES fails to relax with deglutition
• Simultaneous mirrored contractions with no
evidence of progressive peristalsis
• Low-amplitude waveforms indicating a lack
of muscle tone

51. DIAGNOSIS
MANOMETRY
Impaired LES relaxation and absent peristalsis

52. DIAGNOSIS
MANOMETRY

53. DIAGNOSIS
MANOMETRY

54. DIAGNOSIS
MANOMETRY

55. DIFFERENTIAL DIAGNOSIS
• DES
• Chagas’s disease
• Pseudoachalasia

56. PATHOPHYSIOLOGICAL CLASSIFICATION OF
ESOPHAGEAL MOTILITY DISORDERS

57. OTHER CLASSIFICATION OF ESOPHAGEAL MOTILITY DISORDERS
Classic classification
• Primary disorders (motor disorders):
 Achalasia
 Diffuse esophageal spasm (DES)
 Nutcracker (jackhammer)
esophagus
 Hypertensive lower esophageal
sphincter (LES)
 Ineffective esophageal motility
(IEM)
• Secondary disorders:
 Scleroderma
 Dermatomyositis
 Polymyositis
 Lupus erythematosus
 Chagas disease
 Myasthenia gravis
The Chicago Classification of Esophageal Motility
• Achalasia and Esophagogastric Junction
Outflow Obstruction
 Type I achalasia (classic)
 Type II achalasia (with esophageal compression)
 Type III achalasia (spastic achalasia)
 Esophagogastric junction outflow obstruction
(achalasia in evolution)
• Major Disorders of Peristalsis
 Absent contractility
 Distal esophageal spasm
 Hypercontractile esophagus (jackhammer)
• Minor Disorders of Peristalsis
 Ineffective esophageal motility
 Fragmented peristalsis
 Normal esophageal motility

58. SURGICAL CLASSIFICATION OF
ESOPHAGEAL MOTILITY DISPORDERS
• Motility Disorders of the Esophageal Body
 Diffuse Esophageal Spasm
 Nutcracker Esophagus
• Motility Disorders of the Lower Esophageal Sphincter
 Hypertensive Lower Esophageal Sphincter
• Motility Disorders Affecting Both Body and Lower Esophageal
Sphincter
 Achalasia
 Ineffective Esophageal Motility

59. DIFFERENTIAL DIAGNOSIS
DES

60. DIFFERENTIAL DIAGNOSIS
CHAGAS’S DISEASE

61. DIFFERENTIAL DIAGNOSIS
Pseudoachalasia
• Accounts for up to 5% of suspected cases
• Advanced age
• Abrupt onset of symptoms (<1 year)
• Weight loss
• Endoscopy is a necessary part of the evaluation of achalasia

62. ACHALASIA
COMPLICATION
• Aspiration can become life-threatening, pneumonia, lung
abscess, and bronchiectasis often result from long-standing
achalasia
• Esophagitis
• Esophageal adenocarcinoma
• Malnutrition

63. 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

64. TREATMENT – ORAL PHARMACOLOGIC THERAPY
• Calcium channel blockers and long-acting nitrates
• Transiently reduce LES pressure by smooth muscle relaxation, facilitating
esophageal emptying
• SAGES Guidelines:
 Limited role in the treatment
 Should be used in very early stages of the disease, temporizing measures
until more definitive treatments
 Patients who fail or are not candidates for other treatment modalities
• Side-effects such as hypotension, headache, and dizziness in up to 30% of
patients. Moreover, drug tolerance develops with time

65. 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

66. 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

67. TREATMENT
PHARMACOLOGIC THERAPY VIA ENDOSCOPY

68. 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%

69. TREATMENT
PNEUMATIC DILATION

70. 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

71. TREATMENT
MYOTOMY OF THE LES (HELLER MYOTOMY)
• Surgical myotomy of the muscle layer of the distal esophagus and LES
• Maybe perform an antireflux procedure after main surgery

72. TREATMENT
MYOTOMY OF THE LES (HELLER MYOTOMY)

73. TREATMENT
PERORAL ENDOSCOPIC MYOTOMY (POEM)

74. TREATMENT
PERORAL ENDOSCOPIC MYOTOMY (POEM)

75. 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

76. TREATMENT

77. PD VS. BOTOX
• A recent Cochrane database review of 6 studies involving 178 patients
found no significant difference in remission between PD and botox
treatment within 4 weeks of the initial intervention
• A study of 42 patients who were randomized to botox injection or graded
PD with 30 and 35 mm Rigiflex balloons reported success of 70 % for PD
and 32 % for botox at 12 months
• Three studies included in the review had 12-month data with remission in
33 of 47 PD patients compared with 11 of 43 botox patients
PD is more effective than botox in the long term for patients with achalasia

78. PD VS. HELLER MYOTOMY
• The greater likelihood of reducing
sphincter pressure to <10 mmHg
by surgical myotomy compared
with hydrostatic balloon dilation
• Patients whose sphincter
pressure has been reduced by
hydrostatic balloon dilation to
<10 mmHg have an outcome
similar to those after surgical
myotomy

79. PATIENT FOLLOW-UP
Recommendations
• Patient follow-up after therapy may include assessment of both
symptom relief and esophageal emptying by barium esophagram
(strong recommendation, low-quality evidence)
• Surveillance endoscopy for esophageal cancer is not
recommended (strong recommendation, low-quality evidence).
 Short term
 Long term

80. QUESTIONS
A 34-year-old bus driver presents with complaints of difficulty swallowing. The
symptoms began gradually, approximately 9 months ago, and have prevented him
from chewing solids or drinking liquids comfortably. He finds himself awakened at
night with cough and occasional morning regurgitation of recognizable food from
the night before. He has learned to reduce his oral intake and has lost 6 pounds
over the past 2 months. He does not smoke or drink and has no family history of
esophageal or other gastrointestinal illnesses. His physical examination is
unremarkable. Which of the following is the most likely diagnosis?
A. Achalasia
B. Esophageal adenocarcinoma
C. Schatzki ring
D. Peptic stricture
E. Progressive systemic sclerosis

81. Explanation
Esophageal carcinoma may occur in patients with a history of Barrett's esophagus secondary
to longstanding GERD. In any case, this patient is far younger than the typical patient who
develops esophageal adenocarcinoma seen later in life
A Schatzki’s ring produces episodic dysphagia to large solids that are greater in diameter than
the size of the ring, typically at the beginning of a meal
A peptic stricture presents with a mechanical-type dysphagia, typically cause progressive
dysphagia, first for solids, then for liquids. It usually occurs in patients with a longstanding
history of GERD
Progressive systemic sclerosis (PSS) is far more likely to occur in women. Like achalasia, it has
reduced or absent motility in the body of the esophagus. In PSS, however, there is reduced
LES pressure at rest that predisposes to severe GERD and its possible sequelae. Unless there
are symptoms of a mechanical obstruction secondary to a stricture, esophageal retention of
food does not occur

82. SUMMARY
• Achalasia is a rare disease caused by loss of ganglion cells within the
esophageal myenteric plexus with a population incidence of about
6:100.000 and usually presenting between age 25 and 60
• Achalasia is a primary motor disorder of the esophagus characterized by
insufficient LES relaxation and loss of esophageal peristalsis
• Gradual, progressive dysphagia for solids and liquids, regurgitation of
undigested food, barium esophagogram with "bird's beak" distal
esophagus, esophageal manometry confirms diagnosis
• Treatment is contented with pharmacologic therapy, pneumatic balloon
dilatation, or surgical myotomy

83. …
QUESTION TIME

84. REFERENCES
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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
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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.

85. THANK YOU FOR WATCHING!
“ A person who never made a mistake, never tried anything new.”
Albert Einstein