#Achalasia lecture for clerkship medical students. Concise & to the point. Done by student. #GI_diseases. #Internal medicine block.

1. Achalasia
Razan Adib Al-sawadi
Topic Presentation
IM 471
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Regurgitation, often at night when lying down, with nocturnal cough;
possibly chest pain precipitated by eating

2. Definition
Epidemiology
Etiology and Pathogenesis
Clinical Manifestations
Differential Diagnosis
Investigations
Treatment and Management
Summary
MCQs
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3. Definition:
progressive degeneration of ganglion cells in the myenteric plexus in
the esophageal wall, leading to failure of relaxation of the lower
esophageal sphincter, accompanied by a loss of peristalsis in the distal
esophagus.
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Epidemiology:
 uncommon disorder with an annual incidence of approximately 1.6 cases per 100,000
individuals
 Men and women are affected equally.
 usually diagnosed in patients between 25 and 60 years.

4. Etiology:
primary / idiopathic vs Secondary
• Example of 2ry causes: Chagas disease and Other diseases that have
been associated with achalasia-like motor abnormalities include
amyloidosis, sarcoidosis, neurofibromatosis, eosinophilic
esophagitis.
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5. PATHOGENESIS
inflammation and degeneration of inhibitory neurons in the
esophageal wall. The cause is not known (could be triggered by an
antibody response to viral infections: HSV, measles)
+A genetic predisposition ( suggested by association with variants in
the HLA-DQ region and by its occurrence in genetic syndromes.
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aperistalsisesophagogastric
junction outflow
obstruction)
Subtle defect in The UES belch reflex

6. CLINICAL FEATURES
• Achalasia has an insidious onset, progression is gradual.
• Dysphagia for solids and liquids and regurgitation of bland undigested
food or saliva are the most frequent symptoms in patients with achalasia
• aspiration
• Patients may also induce vomiting to relieve a sensation of retrosternal fullness after a meal.
• difficulty belching
• Substernal chest pain and heartburn
• hiccups due to obstruction of the distal esophagus.
• In order to overcome the distal obstruction, affected patients eat more slowly and often
adopt specific maneuvers such as lifting the neck or throwing the shoulders back in
order to enhance esophageal emptying.
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7. DIFFERENTIAL DIAGNOSIS
 Gastroesophageal reflux disease
Pseudoachalasia
Other esophageal motility disorders
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8. DIAGNOSTIC EVALUATION
• Diagnostic approach — Achalasia should be suspected in the following
patients:
• Dysphagia to solids and liquids
• Heartburn unresponsive to a trial of proton pump inhibitor therapy
• Retained food in the esophagus on upper endoscopy
• Unusually increased resistance to passage of an endoscope through the esophagogastric
junction (EGJ)
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10. Radiographic findings —
• A plain radiograph of the chest may reveal:
• widening of the mediastinum due to the dilated esophagus.
• The normal gastric air bubble may be absent due to the failure of
lower esophageal sphincter relaxation that prevents air from entering
the stomach.
• Findings on barium esophagram:
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11. Esophageal manometry
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12. Pneumatic dilation
• the most cost-effective
treatment for type II achalasia
• less invasive as compared with
surgical myotomy or POEM
• Initial success rates are high, but
efficacy wanes over time
• Postprocedure complications
include symptomatic esophageal
perforation (approximately 2
percent) and heartburn
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Surgical myotomy
• LES is weakened by cutting its muscle
fibers
• Since LES disruption can cause reflux
esophagitis, it is frequently combined
with an antireflux procedure such as a
partial fundoplication
• As with endoscopic procedures,
symptom relief wanes with time and
patients often require retreatment.
• Complications of laparoscopic
myotomy include gastroesophageal
reflux disease (GERD), perforation,
pneumothorax, bleeding, vagal injury,
and infection
VS

13. Peroral endoscopic myotomy (POEM)
• good results for POEM also have been reported in patients with
achalasia conditions that often do not respond well to conventional
therapies such as type III (spastic) achalasia and "end stage"
achalasia (markedly dilated, sigmoid esophagus), and in patients who
have failed prior endoscopic and surgical achalasia treatments
• POEM includes no antireflux procedure. Consequently, POEM can
result in GERD.
• adverse procedure-related events (including pneumothorax,
bleeding, mucosal perforations and pleural effusions)
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14. Botulinum toxin injection
• considered in patients who are not good candidates for more
definitive therapy with pneumatic dilation, surgical myotomy, or
POEM. Botulinum toxin injected into the LES poisons the excitatory
(acetylcholine-releasing) neurons
• advantage of being less invasive as compared with surgery and can
be easily performed during routine endoscopy. Initial success rates
with botulinum toxin are comparable to pneumatic dilation and
surgical myotomy. However, patients have more frequent relapses.
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15. Pharmacological therapy
• the least effective treatment option in patients with achalasia, but
should be considered in patients who are unwilling or unable to
tolerate invasive therapy for achalasia and for patients who have
failed botulinum toxin injections.
• Because nitrates are short-acting, sublingual isosorbide
dinitrate/Sublingual nitroglycerin (5 mg) is administered 10 to 15
minutes before meals.
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16. management
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17. Summary
• Achalasia is progressive degeneration of ganglion cells in the myenteric plexus in the
esophageal wall, leading to failure of relaxation of the lower esophageal sphincter,
accompanied by a loss of peristalsis in the distal esophagus.
• Pathogenesis: inflammation and degeneration of inhibitory neurons + genetic predisposition.
• Onset: insidious, MC symptoms: Dysphagia for solids and liquids and regurgitation of
bland undigested food or saliva
• Diagnosed by esophageal manometry
• Treated by: surgical (pneumatic dIlation, myotomy) VS medical (Botox injection, nitrares)
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20. References
• Davidson’s
• Harrison’s
• UpToDate
~ you are only responsible for the
effort, not the outcome~