Explore achalasia, a rare swallowing disorder. Learn about its symptoms, diagnosis, treatment options, and what to expect from this condition.

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Achalasia: Overview And Definition

Achalasia is a rare, chronic, and progressive primary motility disorder of the esophagus (the muscular tube connecting the throat to the stomach). It is classified as a neuromuscular disorder because its features stem from the destruction of nerve cells in the esophageal wall.

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What is Achalasia?

GASTROENTEROLOGY

Achalasia is a rare, insidious, and chronic primary motility disorder of the esophagus. This condition involves a dual neuromuscular pathology: a functional obstruction at the junction of the esophagus and the stomach, coupled with the functional paralysis of the esophageal body. It represents a devastating failure in the coordinated biomechanics required for deglutition (swallowing), leading to severe dysphagia (difficulty swallowing) for both solids and liquids, and subsequent progressive esophageal dilation (megaesophagus).

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Etymology of Achalasia

GASTROENTEROLOGY

The term Achalasia is derived from two ancient Greek components, precisely reflecting the primary physiological failure that defines the disease:

  1. Prefix:  (a)
    • This is the Greek privative alpha, meaning “not,” “without,” or “the lack of.”
  2. Root:  (chalasis)
    • This Greek noun means “relaxation,” “slackening,” or “loosening.” The root is related to the verb $\chi \alpha \lambda \alpha \omega$ (chalaó), “to loosen” or “to let down.”

When combined, Achalasia literally means “the absence of relaxation” or “failure to relax.”

Understanding the Scope of Achalasia

The underlying cause of achalasia is the selective destruction of the inhibitory neurons within the Auerbach’s (Myenteric) Plexus, a crucial nerve network embedded in the muscular layer of the esophageal wall. These inhibitory neurons release neurotransmitters, primarily Nitric Oxide (NO) and Vasoactive Intestinal Peptide (VIP), which signal the LES muscle to relax. Their destruction leads to two cardinal features:

  1. LES Hypertension and Non-Relaxation: The excitatory nerves remain unopposed, causing the LES to maintain an abnormally high resting tone and fail to open upon swallowing, creating a functional obstruction.
  2. Aperistalsis: The coordinated, propulsive waves of muscle contraction (peristalsis) that move food down the esophagus are absent or completely ineffective.

The diagnosis relies on a multi-modal approach:

    • Barium Swallow Study: Often the first clue, this study shows a dramatically dilated esophagus with retained fluid/food, terminating in a smooth, tapered narrowing at the LES, classically described as a “bird’s beak” or “rat-tail” appearance. The horizontal level of the air-fluid interface confirms the stasis of contents.
    • High-Resolution Manometry (HRM): This is the gold standard diagnostic test. HRM measures pressure changes along the esophagus. The diagnostic criteria, defined by the Chicago Classification (v4.0), require the absence of effective peristalsis (aperistalsis) and an elevated Integrated Relaxation Pressure (IRP), which confirms the inadequate LES relaxation.
    • Upper Endoscopy (EGD): Used primarily to rule out a pseudoachalasia (secondary achalasia) caused by strictures, tumors, or external compression at the gastroesophageal junction. The esophagus typically appears dilated and tortuous, sometimes harboring food debris.

What Achalasia Is NOT

Distinguishing achalasia from other esophageal disorders is critical, as treatment pathways are entirely different.

Achalasia is a primary motility disorder involving the loss of inhibitory neurons, requiring treatment that mechanically reduces pressure (like a Myotomy or Dilation). It is emphatically not Gastroesophageal Reflux Disease (GERD) or Reflux Esophagitis. GERD is characterized by a hypotensive (loose) LES allowing acid to flow up into the esophagus, while achalasia involves a hypertonic (tight) LES that prevents food from going down.

Achalasia Subspecialties

Achalasia management requires collaboration across advanced medical and surgical specialties to ensure the optimal, least invasive treatment is chosen.

  • Gastroenterology (Motility Specialist): These specialists are pivotal, as they perform the key diagnostic test (HRM) and manage non-surgical/minimally invasive treatments.
  • Thoracic and General Surgery: They are responsible for the traditional, yet highly effective, surgical approach known as the Laparoscopic Heller Myotomy (LHM). This surgery is typically combined with a partial fundoplication (e.g., Dor or Toupet) to prevent post-operative acid reflux, a major complication of reducing LES pressure.
  • Radiology: Plays a supportive role, primarily in performing and interpreting the Barium Swallow study and sometimes in advanced imaging to rule out tumors or complex anatomical issues.
GASTROENTEROLOGY

Major Types of Achalasia Treated

The recognition of achalasia subtypes revolutionized treatment planning, as different motor patterns respond better to specific interventions. These types are classified based on the High-Resolution Manometry findings:

  • Type I (Classic Achalasia): This subtype is characterized by the complete absence of effective muscle contractions, resulting in minimal-to-no esophageal pressure generation. Clinically, this is the “limp” or fully dilated esophagus. It responds well to procedures focusing purely on reducing LES pressure, such as Pneumatic Dilation (PD) or Laparoscopic Heller Myotomy (LHM).
  • Type II (Achalasia with Esophageal Pressurization): This is the most common subtype. It is characterized by simultaneous, significant pressure increases across the entire esophagus, meaning the esophagus acts like a single pressurized organ. This is associated with the best clinical response to virtually all current treatments (PD, LHM, and POEM), making its diagnosis particularly favorable for patients.
  • Type III (Spastic Achalasia): This is the most challenging type to treat. It is characterized by premature (rapidly occurring) or hyper-pressurized, powerful contractions (spasticity) in the distal esophagus. Because the disease involves significant muscle activity well above the LES, treatment usually requires an extended muscle cut (myotomy) into the esophageal body.

Why is Achalasia So Important?

The importance of timely and effective treatment for achalasia cannot be overstated, given its severe impact and long-term risks:

  1. Prevention of Aspiration: The chronic stasis (retention) of food and saliva severely compromises the airway protection mechanisms. Patients are at high risk of aspirating esophageal contents into the lungs, leading to recurrent, potentially life-threatening aspiration pneumonia, lung abscesses, or bronchiectasis.
  2. Malignancy Risk: Patients with long-standing (often exceeding 10 years), untreated achalasia, especially those who develop severe megaesophagus, have a significantly increased lifetime risk of developing Esophageal Squamous Cell Carcinoma. The chronic irritation and inflammation from retained food are believed to be carcinogenic. This necessitates long-term endoscopic surveillance to detect precancerous changes or early malignancy..

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FREQUENTLY ASKED QUESTIONS

What is Achalasia? And what does a Motility Gastroenterologist do?

Achalasia is a progressive neuromuscular disorder where the lower esophageal sphincter (LES) fails to relax, and the esophageal body is paralyzed (aperistalsis). A Motility Gastroenterologist is the primary specialist. They utilize High-Resolution Manometry (HRM) to precisely diagnose and classify the disease subtype. 

The stasis of food and fluid can lead to several severe complications, including: Megaesophagus (severe widening and tortuosity of the esophagus), Esophagitis (non-acid-related irritation from retained food), Aspiration Pneumonia, significant Weight Loss and malnutrition, and a long-term risk of Esophageal Squamous Cell Carcinoma.

Defined by the Chicago Classification using HRM, the three main types are distinguished by their motor patterns: Type I (Classic), which is marked by a completely inactive esophageal body; Type II (Pressurized), which shows simultaneous pressure increases across the whole esophagus and has the best treatment outcomes; and Type III (Spastic), which is characterized by powerful, premature contractions and is the most difficult to treat.

You should seek a specialist immediately if you experience persistent dysphagia (difficulty swallowing) for both liquids and solids, recurrent regurgitation of undigested food (especially at night), or unexplained weight loss.

Both are esophageal motility disorders. The key distinction is in the LES and the muscle pattern. In Achalasia, the LES is non-relaxing, and the esophageal body is paralyzed (aperistalsis). In DES, the LES relaxation is usually normal, but the esophageal body experiences simultaneous, disorganized, high-amplitude, and non-propulsive contractions (spasms) which cause episodic chest pain and dysphagia. 

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