ACHALASIA OF CARDIA

By definition

 It is a disease of unknown cause in which there is a loss of peristalsis in the

distal esophagus (whose musculature is comprised predominantly of smooth
muscle) and a failure of LES relaxation
 Although both of these abnormalities impair esophageal emptying, the
symptoms of achalasia (eg, dysphagia and regurgitation) are due primarily to
the defect in LES relaxation
 The relentless 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
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, and 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 that effect the relaxation of esophageal smooth
muscle; the cholinergic neurons that contribute to lower esophageal sphincter
(LES) tone by causing smooth muscle contraction may be relatively spared
Etiology

 The cause of the inflammatory degeneration of neurons in achalasia is not

known
 The observations that achalasia is 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
 Although the etiology of primary achalasia is not known, certain recognized
diseases can cause esophageal motor abnormalities similar or identical to those
of primary achalasia. This condition is called secondary or pseudoachalasia to
differentiate it from primary idiopathic disease
 The diseases implicated are:
1. Chagas disease — In Chagas disease seen in Central and South America, esophageal
infection with the protozoan parasite Trypanosoma cruzi can result in a loss of
intramural ganglion cells leading to aperistalsis and incomplete lower esophageal
sphincter (LES) relaxation
2. Malignancy — Malignancy is the most common cause of pseudoachalasia in most
populations. In one series, for example, six patients with pseudoachalasia and 161
patients with primary idiopathic achalasia were seen over a 14 year period.
Pseudoachalasia occurred mainly in the elderly and represented 9 percent of the
patients over the age of 60 with suspected achalasia. Five of the six cases were
secondary to gastric carcinoma.Malignancy can cause pseudoachalasia either by
invading the esophageal neural plexuses directly (eg, adenocarcinoma of the
esophagogastric junction), or through the release of uncharacterized humoral factors
that disrupt esophageal function as part of a paraneoplastic syndrome. In addition to
gastric carcinoma, other tumors which can produce the syndrome include cancer of
the esophagus, carcinoma of the lung, lymphoma and pancreatic carcinoma
 Other causes include amyloidosis, sarcoidosis, neurofibromatosis, eosinophilic
gastroenteritis, multiple endocrine neoplasia type 2B, juvenile Sjögren's
syndrome, chronic idiopathic intestinal pseudo-obstruction, and Fabry disease
Clinical manifestations

 Dysphagia for solids (91 percent) and liquids (85 percent) is the primary
clinical feature of achalasia. Although dysphagia for liquids can occur in
patients with other esophageal motility disorders (eg, progressive systemic
sclerosis), this symptom is most characteristic of achalasia and strongly
suggests the diagnosis
 Difficulty belching has been described in approximately 85 percent of
patients, although few describe this symptom spontaneously, the difficulty
with belching may be due to a defect in relaxation of the upper esophageal
sphincter, which normally occurs when the esophagus is distended by gas
 Weight loss- The degree of weight loss is usually mild, in the range of 5 to 10
kg, although profound weight loss can be seen
 Regurgitation of material retained in the flaccid esophagus may be
troublesome, especially during recumbency at night, and may result in
aspiration. Some patients induce regurgitation to relieve a retrosternal
feeling of fullness after a meal
 Chest pain is occasionally the presenting symptom of achalasia and is more
common in younger patients, and tends to diminish over the course of several
years
 Heartburn- disappearance with the onset of dysphagia, suggesting that such
patients had underlying GERD before developing achalasia. Heartburn may
also result from direct irritation of the esophageal lining by food, pills, or
lactate production by bacterial fermentation of retained carbohydrate
 Globus sensation (a lump in the throat) has been reported as a presenting
symptom
 Hiccups are common and probably result from obstruction of the distal
esophagus
Diagnosis

 The symptoms of achalasia often are insidious in onset and gradual in

progression. As a result, patients typically experience symptoms for years
before seeking medical attention, studies done reveal a period of 4.7 years on
average
 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
radiographic, manometric, and endoscopic evaluation to confirm the diagnosis
 Modalities include:
1. Radiographic studies — A barium swallow is the primary screening test when achalasia
is suspected on clinical grounds. The diagnostic accuracy of barium swallow for
achalasia is approximately 95 percent [ 19 ]. The barium swallow typically shows a
dilated esophagus that terminates in a beak-like narrowing caused by the persistently
contracted lower esophageal sphincter (LES). In some cases, the dilation is so
profound that the esophagus assumes a sigmoid shape
2. Standard manometry — Although clinical and radiographic findings may strongly
suggest the diagnosis of achalasia, a manometric examination is suggested for
confirmation in virtually all cases. There are three characteristic manometric features
of achalasia, although a number of variants have been described and include elevated
rising LES pressure above 45 mmhg, incomplete LES relaxation and aperistalsis
3. High-resolution manometry - The data collected by these multiple sensors are
processed using computer algorithms to display the manometric study in the form of
color-coded graphs. When the data are displayed with pressure topography plots, the
resulting technology is called high-resolution esophageal pressure topography (HREPT)
and provides enhanced detail in the characterization of achalasia, esophageal spasm,
nutcracker esophagus, and the morphology of the esophageal gastric junction
4. Endoscopy — Endoscopic evaluation is generally recommended for patients with
achalasia, primarily to exclude malignancies at the esophagogastric junction that can
mimic primary achalasia clinically, radiographically, and manometrically
Management

 Medical therapy — Nitrates and calcium channel blockers (eg, nifedipine ) are used
primarily for patients who are unwilling or unable to tolerate the more effective
but invasive forms of therapy for achalasia. Nitrates and calcium channel blockers
relax the smooth muscle of the lower esophageal sphincter (LES) both in normal
individuals and in patients with achalasia. The drugs are usually taken sublingually
10 to 30 minutes before meals
 Botulium toxin injection — Botulinum toxin injected into the lower esophageal
sphincter (LES) poisons the excitatory (acetylcholine-releasing) neurons that
increase LES smooth muscle tone. The net effect is a therapeutic decrease in LES
pressure in patients with achalasia. Initial success rates of close to 80 percent are
similar to those seen with endoscopic balloon dilation and surgery. However,
symptom relief wanes with time (70 percent at 3 months, 53 percent at 6 months,
and 41 percent at 12 months or longer in a systematic review) and many patients
require endoscopic or surgical treatment
 Dilation of the Lower Esophageal Sphincter — There are two primary
modalities used to dilate the lower esophageal sphincter in patients with
achalasia: Bougie esophageal dilation (bougienage) and pneumatic balloon
dilation
 Esophageal dilation with a soft, tapered dilator (bougienage) is highly
effective in the treatment of peptic esophageal strictures, but usually
provides only temporary and incomplete relief for patients with achalasia
 Nevertheless, it is an option in patients who are poor surgical candidates
because it has a lower risk of esophageal perforation compared with
pneumatic balloon dilation
 Forceful dilation can be accomplished with pneumatic balloon dilation of the
LES, which weakens the LES by tearing its muscle fibers
 Surgical myotomy where Heller’s myotomy is performed either as open
surgery or laparasopically. In which the lower esophageal sphincter (LES) is
weakened by cutting its muscle fibers, is the primary alternative to
pneumatic dilation for achalasia
Epidemiology

 Achalasia is an uncommon disorder that has an annual incidence of

approximately 1.6 cases per 100,000. Men and women are affected with equal
frequency. The disease can occur at virtually any age, but onset before
adolescence is decidedly unusual. Achalasia is usually diagnosed in patients
who are between the ages of 25 and 60 years
Barium swallow x-rays showing beak
appearance in Achalasia of Cardia
The End

 Thank you all