This document provides information about Achalasia, including its pathophysiology, symptoms, diagnosis, and treatment options. Achalasia is caused by the loss of inhibitory neurons in the esophagus which leads to failure of the lower esophageal sphincter to relax during swallowing. Patients experience symptoms of dysphagia and regurgitation. Diagnosis involves barium swallow, esophageal manometry, and endoscopy. Treatment options include medications, balloon dilation, botulinum toxin injection, and surgical myotomy, with the goal of weakening the lower esophageal sphincter to improve swallowing.

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Achalasia
Dr Nazim
Consultant gastroenterology
nazimarain81@hotmail.com

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Achalasia
• Achalasia (a Greek term that means "does
not relax“ ) is a disease of unknown cause in
which there is a loss of peristalsis in the
distal esophagus and a failure of LES
relaxation.
• Both of these abnormalities impair
esophageal emptying .

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Achalasia
• The symptoms and signs of Achalasia are due primarily to the defect
in LES relaxation.
• LES contraction in Achalasia causes functional obstruction of the
esophagus that persists until the hydrostatic pressure of the retained
material exceeds the pressure generated by the sphincter muscle.

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PATHOPHYSIOLOGY
• Achalasia results from the degeneration of neurons in the esophageal
wall .
• Histologic examination reveals
– Decreased numbers of neurons (ganglion cells) in the myenteric plexuses .
– The ganglion cells that remain often are surrounded by lymphocytes and,
less prominently, by eosinophils .
– This inflammatory degeneration preferentially involves the nitric oxide-
producing, inhibitory neurons .
• Loss of inhibitory innervation in the LES causes the basal sphincter
pressure to rise .

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PATHOPHYSIOLOGY
• Degenerative changes also are
found in the ganglion cells of the
dorsal motor nucleus of the vagus
in the brainstem .
• Wallerian degeneration has been
observed in the vagal fibers that
supply the esophagus .

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CCK octapeptide test for Achalasia
• CCK has a dual effect on the lower
esophageal sphincter .
• it stimulates smooth muscle contraction
and the release of inhibitory
neurotransmitters.
• Direct stimulatory effect of CCK on the
sphincter muscle is opposed by the CCK-
induced release of inhibitory
neurotransmitters.
• Administration of CCK normally causes
the LES pressure to fall because the effect
on inhibitory neurotransmitters is greater.
• In patients with Achalasia, CCK causes
the lower esophageal sphincter pressure to
rise.

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ETIOLOGY
PRIMERY ACHALASIA
• Inflammatory degeneration of neurons in Achalasia is not known.
• Associated with HLA-DQw1 and that affected patients often have circulating
antibodies to enteric neurons suggest that Achalasia may be an autoimmune
disorder .
• A study evaluating T-cells in patients with Achalasia found reactivity to HSV-
1, suggesting that Achalasia may be triggered by HSV-1 infection .

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ETIOLOGY
Causes of secondary or pseudoachalasia .
• Chagas disease
– esophageal infection with the protozoan parasite Trypanosoma cruzi can
result in a loss of intramural ganglion cells
• Malignancy
– either by invading the esophageal neural plexuses directly
– through the release of uncharacterized humoral factors that disrupt
esophageal function as part of a paraneoplastic syndrome.
• amyloidosis, sarcoidosis, neurofibromatosis, eosinophilic
gastroenteritis, multiple endocrine neoplasia type 2B, juvenile
Sjögren's syndrome,

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ETIOLOGY
• Certain features increase the likelihood that the patient has pseudoachalasia
due to malignancy
– Duration of symptoms < 6 months
– Presentation after age 60
– Excessive weight loss in relation to the duration of symptoms
– Difficult passage of the endoscope through the gastroesophageal junction

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CLINICAL MANIFESTATIONS
• Annual incidence of approximately 1 case per 100,000 .
• Men and women are affected with equal frequency.
• usually diagnosed in patients who are between the ages of 25 and 60 years.
• patients typically experience symptoms for years before seeking medical
attention.

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Frequency of the symptoms of Achalasia

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DIAGNOSIS
• The symptoms of Achalasia often are insidious in onset and gradual
in progression.
• The delay in diagnosis was due to misinterpretation of typical
findings by physicians rather than atypical clinical manifestations.
• Many patients are treated for other disorders such as
gastroesophageal reflux disease before the diagnosis of Achalasia is
made .
• Patients who have a clinical history suggestive of Achalasia require
1. Radiographic,
2. Manometric,
3. Endoscopic evaluation to confirm the diagnosis.

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Radiographic studies
• widened mediastinum caused by the dilated esophagus,
• an air-fluid level in the upper chest due to retained fluid in the dilated esophagus
(arrows)
• absence of the gastric air bubble.

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Classic Achalasia Ba swallow

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Barium swallow
• Dilated esophagus and bird’s beak
appearance typical of Achalasia.
• Retained food is also visible.

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Barium swallow
• Barium swallow in a patient with
"vigorous" Achalasia.
• There are multiple, nonperistaltic
muscular contractions in the dilated
esophagus.

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Manometry
• A manometric examination is required for confirmation in virtually all cases .
• There are three characteristic manometric features of Achalasia .
– Elevated resting LES pressure (above 45 mmHg).
– Incomplete LES relaxation
– Aperistalsis
• Another manometric abnormality often observed in Achalasia is that resting
pressure in the body of the esophagus is slightly higher than that in the
stomach.

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Manometric features of Achalasia
• Elevated resting lower esophageal
sphincter (LES) pressure (above 45
mmHg) .
• Incomplete LES relaxation after a
swallow (S) .
• Aperistalsis in the smooth muscle
portion of the body of the
esophagus.
• The simultaneous esophageal
contractions have amplitudes >60
mmHg, a condition known as
"vigorous" Achalasia.

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Endoscopy
• Endoscopic evaluation is generally recommended for most patients to
exclude malignancies at the esophagogastric junction that can mimic
primary Achalasia clinically, radiographically, and manometrically (so
called "pseudoachalasia").
• Endoscopy in Achalasia typically reveals
– A dilated esophagus that often contains residual material.
– The esophageal mucosa usually appears normal,
– Although inflammation and ulceration may result from irritation caused
by retained food or pills.
– esophageal stasis predisposes to candida infection that may be apparent as
adherent whitish plaques on the mucosal surface.

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Management of Achalasia

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Treatment of Achalasia
• MEDICAL THERAPY
– No treatment reliably restores function in the body of the esophagus .
– Nitrates and calcium channel blockers (eg, Nifidipine ) relax the smooth
muscle of the LES both in normal individuals and in patients with
Achalasia .
– The drugs usually are taken sublingually 10 to 30 minutes before meals.
• Medical therapy are used primarily for patients who are unwilling or unable to
tolerate the more effective invasive forms of therapy .

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BALLOON DILATATION
• Therapy is designed to weaken the LES by tearing its muscle fibers.
• At present, the most popular pneumatic dilator in the United States is the
Rigiflex balloon (similar in design to the Grunting angioplasty catheter),
which is passed over a guidewire and positioned fluoroscopically in the LES.
• This balloon is available in three different sizes (3.0, 3.5, and 4.0 cm).
• The smallest size balloon is typically used for the first session.
• If symptoms persist, the procedure can be repeated with incrementally larger
balloons. This is the so-called "graded approach".
• Esophageal perforation may occurs in approximately 3 to 5 percent of patients
in most series .

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Technique
• There is no clear consensus on the optimal
method for performing pneumatic dilation.
• The maximum diameter of the balloon
(reported range 2.4 to 5.0 cm)
• The pressure to which the balloon is
inflated (reported range 105 to >1000
mmHg)
• The rate of balloon inflation (rapid versus
gradual)
• The duration of balloon inflation (reported
range several seconds to 5 minutes).
• The number of balloon inflations per
dilating session (reported range 1 to 5)
• None of the variations in technique has
shown a significant change in outcome.

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BOTULINUM NEUROTOXIN
• A potent inhibitor of the release of acetylcholine from nerve endings .
• BoNT/A can reduce the LES pressure by selectively blocking the release of
acetylcholine from presynaptic cholinergic nerve terminals in the myenteric
plexus .
Technique
• BoNT/A is injected during a routine upper endoscopy.
• visual estimation of the location of LES and injection of 1 mL aliquots (20 to
25 units BoNT/A/mL) into each of four quadrants approximately 1 cm above
the Z line using a standard sclerotherapy needle.
• Endoscopic ultrasound used to identify the LES has been suggested as an aid
in guiding injection
• Improvement in symptoms is usually observed only after 24 hours

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SURGICAL MYOTOMY
Modified Heller approach
• Surgeon weakens the LES by
cutting its muscle fibers, has been
viewed as the primary alternative
to pneumatic dilation for
Achalasia.
• Modified Heller approach results in
good to excellent relief of
symptoms in 70 to 90 percent of
patients .
• Reflux esophagitis (that may be
complicated by esophageal
ulceration, stricture, and Barrett's
esophagus) develops in
approximately 10 to 30 percent of
patients treated by surgical
myotomy .

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Thank you !!