ACHALASIA

Contents

 Introductions
 Definitions
 Pathophysiology
 Etiology
 epidemiology
 Signs and symptoms
 Diagnosis
 Managements
 Complications
 Prognosis

Introduction

Achalasia is a primary esophageal motility disorder characterized by the absence of

esophageal peristalsis and impaired relaxation of the lower esophageal sphincter
(LES) in response to swallowing. The LES is hypertensive in about 50% of
patients. These abnormalities cause a functional obstruction at the
gastroesophageal junction (GEJ). Achalasia is a primary esophageal motility
disorder characterized by the absence of esophageal peristalsis and impaired
relaxation of the lower esophageal sphincter (LES) in response to swallowing. The
LES is hypertensive in about 50% of patients. These abnormalities cause a
functional obstruction at the gastroesophageal junction (GEJ).

Definitions

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Achalasia is a primary esophageal motility disorder characterized by the absence of
esophageal peristalsis and impaired relaxation of the lower esophageal sphincter
(LES) in response to swallowing.

Pathophysiology

LES pressure and relaxation are regulated by excitatory (eg, acetylcholine,

substance P) and inhibitory (eg, nitric oxide, vasoactive intestinal peptide)
neurotransmitters. Persons with achalasia lack nonadrenergic, noncholinergic,
inhibitory ganglion cells, causing an imbalance in excitatory and inhibitory
neurotransmission.  The result is a hypertensive nonrelaxed esophageal sphincter.

Etiology

There is some evidence that achalasia is an autoimmune disease.  A European

study compared immune-related deoxyribonucleic acid (DNA) in persons with
achalasia with that of controls and found 33 single-nucleotide polymorphisms
(SNPs) associated with achalasia. All of the were found in the major
histocompatability complex region of chromosome 6, a location associated with
autoimmune disorders such as multiple sclerosis, lupus, and type 1 diabetes.

Epidemiology

The incidence of achalasia is approximately 1 per 100,000 people per year.

The incidence of esophageal dysmotility appears to increased in patients with
spinal cord injury (SCI). [  In a study of 12 patients with paraplegia (level of injury
between T4-T12), 13 patients with tetraplegia (level of injury between C5-C7), and
14 able-bodied individuals, Radulovic et al found 21 of the 25 patients (84%) with
SCI had at least one esophageal motility anomaly compared to 1 of 14 able-bodied
subjects (7%). Among the anomalies seen in SCI patients were type II achalasia
(12%), type III achalasia (4%), esophagogastric junction outflow obstruction
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(20%), hypercontractile esophagus (4%), and peristaltic abnormalities (weak
peristalsis with small or large defects or frequent failed peristalsis) (48%}. 
Altered esophageal motility is sometimes seen in patients with anorexia
nervosa. [5]  It is also seen in patients following eradication of esophageal varices by
endoscopic sclerotherapy, in association with an increased number of endoscopic
sessions but not with manometric parameters. Features of esophageal motility after
endoscopic sclerotherapy are a defective lower sphincter and defective and
hypotensive peristalsis.

International data

In a retrospective study (1990-2013) from the Netherlands, the mean incidence of

achalasia in children was 0.1 per 100,000 people per year .  Relapse rates after the
initial treatment  were higher in those who underwent pneumodilation (79%) than
Heller myotomy (21%), but complication were occurred more often following
Heller myotomy (55.6%) than with pneumodilation (1.5%).
Chagas disease may cause a similar disorder to achalasia.

Sex- and age-related demographics

The male-to-female ratio of achalasia is 1:1.

Achalasia typically occurs in adults aged 25-60 years. Less than 5% of cases occur
in children.
Signs and symptoms

History and Physical Examination

Achalasia is characterized by the following symptoms and signs :
 Dysphagia (most common)
 Regurgitation
 Chest pain

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  Heartburn
 Weight loss
The physical examination is noncontributory.
Diagnosis
Diagnostic Considerations
Cancer of the gastroesophageal junction
The invasion of the esophageal neural plexus by the tumor can cause nonrelaxation
of the LES, thus mimicking achalasia. This condition is known as malignant
pseudoachalasia. Since contrast radiography and endoscopy frequently fail to
differentiate these 2 entities, patients with a presumed diagnosis of achalasia but
who have a shorter duration of symptoms, greater weight loss, and a more
advanced age and who are referred for minimally invasive surgery should undergo
additional imaging studies, including endoscopic ultrasound and computed
tomography with fine cuts of the gastroesophageal junction, to rule out cancer.
Esophageal perforation
Pneumatic dilatation for achalasia carries a significant and recognized risk of
esophageal perforation. Therefore, an informed consent emphasizing this risk of
perforation must be obtained from patients prior to the dilatation.
After the dilatation, administer a small amount of water-soluble contrast material
to evaluate for perforation. This should be performed in all patients undergoing the
procedure. If no perforation is noted, the patient's diet can be advanced slowly after
a period of observation.
Patients with a small perforation without any evidence of infection or
communication with the pleural or peritoneal cavities may receive conservative
therapy with broad-spectrum antibiotics and close observation in the hospital.

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A surgical consultation must be obtained as soon as a perforation is identified. Any
clinical deterioration or communication with the mediastinum or pleural or
peritoneal cavities necessitates surgical intervention.
A diagnosis of achalasia should be considered when patients present with
dysphagia, chest pain, and refractory reflux symptoms after an endoscopy does not
reveal a mechanical obstruction or an inflammatory cause of esophageal
symptoms. 
The American College of Gastroenterology released new guidelines for the
diagnosis and management of achalasia in July 2013. Recommendations for the
proper diagnosis of the disorder include the following:
 Performing an esophageal motility test on all patients suspected of having
achalasia
 Using esophagram findings to support a diagnosis
 Using barium esophagram, as recommended for patients with equivocal
motility testing
 Endoscopic assessment of the gastroesophageal junction and gastric cardia,
as recommended, to rule out pseudoachalasia
Laboratory studies are generally noncontributory.
Esophageal pressure topography (EPT) may be the preferred assessment modality
of esophageal motility over conventional line tracings (CLT).  Six attending
gastroenterologists and six gastroenterology fellows from 3 academic centers
interpreted each of the 40 studies using both EPT and CLT formats: Among all
raters, the odds of an incorrect exact esophageal motility diagnosis were 3.3 times
higher with CLT than with EPT, and the odds of incorrect identification of a major
motility disorder were 3.4 times higher with CLT than with EPT.

Barium swallow

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The esophagus appears dilated, and contrast material passes slowly into the
stomach as the LES opens intermittently. The distal esophagus is narrowed and has
been described as resem bling a bird's beak (see the image below).

Other Tests
Esophageal manometry (see the image below) is the criterion standard in helping
to diagnose the classic findings of achalasia.  These findings include the following:
 Incomplete relaxation of the LES in response to swallowing
 High resting LES pressure
 Absent esophageal peristalsis

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Prolonged esophageal pH monitoring is important for the following reasons:
 To rule out gastroesophageal reflux disease (GERD)
 To determine if abnormal reflux is being caused by treatmen
Managements
Achalasia managements algorithms

Medical care

The American College of Gastroenterology released new guidelines for the

diagnosis and management of achalasia in July 2013.  Treatment recommendations
are as follows:
 Initial therapy should be either graded pneumatic dilation (PD) or
laparoscopic surgical myotomy with a partial fundoplication in patients fit to
undergo surgery
 Procedures should be performed in high-volume centers of excellence

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  Initial therapy choice should be based on patient age, sex, preference, and
local institutional expertise
 Botulinum toxin therapy is recommended for patients not suited to PD or
surgery
 Pharmacologic therapy can be used for patients not undergoing PD or
myotomy and who have failed botulinum toxin therapy (nitrates and calcium
channel blockers most common)
Surgical care
Surgical Care
Because of excellent results, a short hospital stay, and a fast recovery time, the
primary treatment is considered by many to be a laparoscopic Heller myotomy and
partial fundoplication. In the author's experience and in the experience of many
authors, this treatment provides a fine balance in relieving symptoms of dysphagia
by performing the myotomy and in preventing gastroesophageal reflux by adding a
partial wrap. A prospective, randomized study from Vanderbilt University
indicated that there is significantly less risk of postoperative reflux following a
Heller myotomy plus a partial fundoplication than there is after a Heller myotomy
alone.
Medications
Calcium channel blockers :These agents interfere with calcium uptake by smooth
muscle cells that are dependent on intracellular calcium for contraction. They have
a relaxant effect on the LES muscle.
Complications
 Prolonged chest pain  esophageal mucosal tear
 gastroesophageal reflux  intramural
 gastrointestinal hemorrhage esophageal hematoma

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 Almost 30% of patients undergoing pneumatic dilation for achalasia develop
either prolonged pain or morphologic lesions.
Prognosis

Pneumatic dilatation and laparoscopic myotomy are effective for managing

achalasia. If adequate expertise is available, surgery is preferred.
Do not use botulinum toxin and medications if performing a pneumatic dilatation
or laparoscopic Heller myotomy.

Refences

Davidson 23 edition
Harrison 20 edition
Medscape
Wiki for pictures