Clinical Presentation and Evaluation

Score

Weight loss (Kg)

Dysphagia

Retrosternal pain

Regurgitation

None

Occasional

5–10

Daily

>10

Each meal

Diagnostic Evaluation

In order to establish a diagnosis of achalasia, it is important to have a comprehensive work-up which includes barium swallow, upper endoscopy, esophageal manometry [14], and sometimes ambulatory 24-h pH monitoring [15, 16]. An endoscopic ultrasound and a chest CT scan are useful when pseudoachalasia secondary to a tumor is suspected.

Esophagogastroduodenoscopy (EGD)

EGD with biopsies should be performed in patients who experience dysphagia, in order to rule out the presence of a mechanical obstruction secondary to a peptic stricture or cancer. An infiltrating tumor of the gastroesophageal junction can mimic the clinical, radiological, and manometric findings of achalasia, resulting in impaired LES relaxation and absence of peristalsis. In patients older than 60 years old with rapidly progressing dysphagia and severe weight loss, “secondary achalasia” or “pseudoachalasia” should be suspected [17].

Endoscopic features of achalasia include a dilated or tortuous esophagus, food and fluid pooling in the esophagus, and resistance to passage of the scope through the gastroesophageal junction. The esophageal mucosa can be normal or show signs of esophagitis usually secondary to food stasis or candida infection (Fig. 2.1) [18]. In about 30–40% of patients, the EGD can be normal.

../images/473262_1_En_2_Chapter/473262_1_En_2_Fig1_HTML.png — Fig. 2.1

Endoscopic findings in a patient with achalasia. (Courtesy of Rudolf Buxhoeveden, MD. Buenos Aires, Argentina). (a) Retained food; (b) dilated esophagus

Although endoscopy may suggest achalasia, other tests must be performed to confirm the diagnosis.

Barium Swallow

This test provides information about the anatomy (diameter and axis) and the emptying of the esophagus. The “bird-beak” appearance is pathognomonic of achalasia (Fig. 2.2). Other typical radiologic findings are slow emptying of the contrast from the esophagus into the stomach, an air-fluid level (Fig. 2.3), and tertiary contractions of the esophageal wall. In more advanced cases, severe dilatation and a sigmoid-like appearance can occur (Fig. 2.4). This information is particularly important to plan treatment. In the presence of a very dilated and sigmoid esophagus, pneumatic dilatation and POEM are less effective. In addition, a laparoscopic myotomy will require a more extensive dissection in the posterior mediastinum to straighten the esophageal axis. If performed as timed barium swallow, it can also quantify the efficacy of treatment [19].

../images/473262_1_En_2_Chapter/473262_1_En_2_Fig2_HTML.jpg — Fig. 2.2

Barium swallow : esophageal dilatation and a smooth tapering of the distal esophagus . (bird’s beak sign – arrows)

../images/473262_1_En_2_Chapter/473262_1_En_2_Fig3_HTML.jpg — Fig. 2.3

Air-fluid level (arrows)

../images/473262_1_En_2_Chapter/473262_1_En_2_Fig4_HTML.png — Fig. 2.4

(a) Sigmoid-shaped esophagus ; (b) esophageal dilatation

Although barium swallow is a key test in the work-up, it may show no abnormalities in about 30% of the patients. The expertise of the radiologist with this rare disease is key for a proper interpretation of the radiologic features [20].

Esophageal Manometry

Esophageal manometry has become the gold standard for diagnosing and classifying achalasia. The diagnosis is classically made by demonstrating impaired relaxation of the lower esophageal sphincter in response to swallowing and absent peristalsis. The LES is hypertensive in about 50% of patients [21].

The increased precision of the high-resolution manometry (HRM) has improved the ability to diagnose achalasia and identify different contractile patterns. As compared to conventional manometry, HRM determines more comfort and speediness to the test, easiness to teach, interobserver and intraobserver reproducibility, and compensation of movements artifacts [21, 22]. Pressure, length, and relaxation of the LES , as well as the pressure of the upper esophageal sphincter, are measured with more than 30 sensors spaced at 1 cm intervals, allowing for a precise pressure recording throughout the whole esophagus.

HRM included new manometric parameters, which were summarized in the so-called Chicago Classification [23, 24]. This new classification includes three distinct subtypes of achalasia that have both prognostic and therapeutic implications (Fig. 2.5):