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Esophageal Achalasia

Esophageal achalasia is a rare, incurable, and progressive motility disorder of the oesophagus, characterised by the failure of smooth muscle fibres to relax. This results in the lower esophageal sphincter (LES) remaining closed, hindering the passage of food into the stomach.

The exact cause remains unknown, although it may involve autoimmune or genetic factors.

Signs and Symptoms

The primary symptoms of achalasia include dysphagia (difficulty swallowing), regurgitation of undigested food, chest pain behind the sternum, and weight loss. Dysphagia progressively worsens over time, affecting both solids and liquids. Chest pain, also known as cardiospasm, can be severe and is often mistaken for a heart attack. Patients may also experience coughing, particularly when lying down, and aspiration of food into the lungs. In advanced stages, food can build up in the oesophagus, leading to extreme dilation (megaesophagus), necessitating vomiting to relieve the pressure.

A chest X-ray showing achalasia. Arrows point to the outline of the massively dilated oesophagus.
A chest X-ray showing achalasia. Arrows point to the outline of the massively dilated oesophagus.

Diagnosis

Diagnosing achalasia involves several tests. Esophageal manometry is the key diagnostic test, revealing a non-relaxing LES and lack of peristalsis. Barium swallow studies show a characteristic "bird's beak" appearance due to narrowing at the LES and dilation above it. Endoscopy can rule out other conditions, such as cancer, and may show a dilated oesophagus with retained food debris. A biopsy can be performed but is not typically necessary for diagnosis.

An axial CT image showing marked dilatation of the oesophagus in a person with achalasia.
An axial CT image showing marked dilatation of the oesophagus in a person with achalasia.

Treatment

Treatment aims to relieve symptoms by reducing LES pressure but does not cure the condition. Options include lifestyle changes, medications, pneumatic dilatation, and surgery.

Lifestyle Changes

Patients are advised to eat slowly, chew thoroughly, drink water with meals, and avoid eating near bedtime. Elevating the head during sleep can help prevent nighttime regurgitation. Post-treatment, proton pump inhibitors may be necessary to prevent acid reflux, and certain foods that exacerbate reflux should be avoided.

Medication

Medications such as calcium channel blockers (e.g., nifedipine) and nitrates can reduce LES pressure but often have side effects like headaches and swollen feet. Botulinum toxin (Botox) injections can temporarily paralyse the LES but are usually reserved for patients who cannot undergo surgery.

Pneumatic Dilatation

Pneumatic dilatation involves inflating a balloon inside the LES to stretch and tear the muscle fibres. This method can be effective, especially in patients over 40, but may require repeated procedures and carries the risk of esophageal perforation.

Surgery

Heller myotomy, often performed laparoscopically, involves cutting the muscle layers of the oesophagus to relieve pressure. This procedure is frequently combined with a partial fundoplication, such as a Dor fundoplication, to prevent reflux. Newer techniques, like robotic lateral esophageal myotomy, aim to preserve the esophageal valve and reduce reflux without the need for fundoplication.

Image of a stomach which has undergone Fundoplomy. The Fundus, the upper part of the stomach, is wrapped around the attached oesophagus and sewn back to itself.
Image of a stomach which has undergone Fundoplomy. The Fundus, the upper part of the stomach, is wrapped around the attached oesophagus and sewn back to itself.

Endoscopic Myotomy

Per-oral endoscopic myotomy (POEM) is a minimally invasive procedure where an endoscope is used to cut the inner circular muscle layer of the oesophagus. This method leaves no visible scars and has shown promising results in long-term patient satisfaction.

Monitoring

Regular follow-ups are very important even after successful treatment, as swallowing can deteriorate over time. Timed barium swallows, pH testing, and endoscopies are recommended to monitor for complications like Barrett's oesophagus or strictures.

History

Achalasia was first described by Sir Thomas Willis in 1672. In 1913, Ernest Heller performed the first successful esophagomyotomy. Over the years, various advancements have been made, including the introduction of Botox in 1994 and the development of POEM in 2008.

Bird's beak appearance and megaesophagus, typical in achalasia.
Bird's beak appearance and megaesophagus, typical in achalasia.

Achalasia remains a challenging condition to manage, requiring a combination of diagnostic precision and tailored therapeutic approaches to improve patient outcomes.


Self-assessment MCQs (single best answer)

What is the primary characteristic of esophageal achalasia?



Which of the following is NOT a common symptom of esophageal achalasia?



What is the key diagnostic test for confirming esophageal achalasia?



What does a barium swallow study typically reveal in a patient with esophageal achalasia?



Which lifestyle change is recommended for patients with esophageal achalasia?



Which medication is commonly used to reduce LES pressure in esophageal achalasia?



What is the main risk associated with pneumatic dilatation for treating esophageal achalasia?



What surgical procedure is commonly performed to relieve the pressure of the LES in esophageal achalasia?



What is the primary goal of per-oral endoscopic myotomy (POEM) in treating esophageal achalasia?



Who first described esophageal achalasia, and in what year?



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