Axalazia

Ekaterine Labadze MD
 Definition

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 gastro-esophageal junction (GEJ).
Axalazia
Endoskopy
 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.
 Background

Sir Thomas Willis described achalasia in 1672. In 1881, von Mikulicz described the
disease as a cardio-spasm to indicate that the symptoms were due to a functional
problem rather than a mechanical one. In 1929, Hurt and Rake realized that the
disease was caused by a failure of the lower esophageal sphincter (LES) to relax.
They coined the term achalasia, meaning failure to relax.
Achalasia is a primary esophageal motility disorder characterized by the
absence of esophageal peristalsis and impaired LES relaxation in response to
swallowing. The LES is hypertensive in about 50% of patients. These
abnormalities cause a functional obstruction at the gastroesophageal junction.
 Epidemiology

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

Symptoms of achalasia include the following:

 Dysphagia (most common)

 Regurgitation
 Chest pain
 Heartburn
 Weight loss
 Diagnosis
Laboratory studies are noncontributory.

Studies that may be helpful include the following:

 Barium swallow: Bird’s beak appearance, esophageal dilatation

 Esophageal manometry (the criterion standard): Incomplete LES relaxation in response to
swallowing, high resting LES pressure, absent esophageal peristalsis
 Prolonged esophageal pH monitoring to rule out gastroesophageal reflux disease and determine
if abnormal reflux is being caused by treatment
 Esophagogastroduodenoscopy to rule out cancer of the GEJ or fundus
 Concomitant endoscopic ultrasonography if a tumor is suspected
 Management
The goal of therapy for achalasia is to relieve symptoms by eliminating the outflow resistance caused by the
hypertensive and nonrelaxing LES.

Pharmacologic and other nonsurgical treatments include the following:

• Administration of calcium channel blockers and nitrates decrease LES pressure

(primarily in elderly patients who cannot undergo pneumatic dilatation or surgery)

• Endoscopic intrasphincteric injection of botulinum toxin to block acetylcholine release at the level of the
LES
(mainly in elderly patients who are poor candidates for dilatation or surgery)
 Management

Surgical treatment includes the following:

 Laparoscopic Heller myotomy, preferably with anterior (Dor; more common)

or posterior (Toupet) partial fundoplication
 Peroral endoscopic myotomy (POEM)
 Patients in whom surgery fails may be treated with an endoscopic dilatation
first. If this fails, a second operation can be attempted once the cause of
failure has been identified with imaging studies. Esophagectomy is the last
resort.
 Approach Considerations
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
 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)
 Medical Care

Calcium channel blockers and nitrates are used to decrease LES pressure.
Approximately 10% of patients benefit from this treatment. This treatment is
used primarily in elderly patients who have contraindications to either pneumatic
dilatation or surgery

 Calcium channel blockers (NIFEDIPIN)

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.

 Nitrates (IZODRIL)
These agents relax vascular smooth muscle