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Achalasia – Causes, Symptoms and Treatment

Achalasia is a rare esophageal disorder in which the lower esophageal sphincter fails to relax properly, making swallowing difficult.

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Things worth knowing about "Achalasia"

Achalasia is a rare esophageal disorder in which the lower esophageal sphincter fails to relax properly, making swallowing difficult.

What is Achalasia?

Achalasia is a rare but serious disorder of the esophagus (food pipe). In this condition, the coordinated muscle activity of the esophagus is impaired: the lower esophageal sphincter (LES) – a ring of muscle at the junction between the esophagus and the stomach – cannot relax and open sufficiently during swallowing. At the same time, the normal peristalsis – the wave-like muscle contractions that propel food toward the stomach – is absent or severely reduced. As a result, food and liquids accumulate in the esophagus rather than passing into the stomach.

Causes

The exact cause of achalasia is not yet fully understood. It is widely believed to be an autoimmune condition in which the immune system mistakenly attacks and destroys the nerve cells (ganglion cells) within the myenteric plexus (Auerbach plexus) – a network of nerves in the esophageal wall. Potential contributing factors include:

Genetic predisposition
Viral infections (e.g., herpes simplex virus)
Autoimmune reactions
In South America, infection with Trypanosoma cruzi (Chagas disease) can cause secondary achalasia

Symptoms

The symptoms of achalasia typically develop gradually and may persist for years before a diagnosis is made. Common symptoms include:

Dysphagia: Difficulty swallowing both solid foods and liquids
Regurgitation: Backflow of undigested food or liquids, especially at night
Chest pain: A feeling of pressure or cramping behind the breastbone
Weight loss: Due to reduced food intake caused by swallowing difficulties
Heartburn: Occasionally present as an accompanying symptom
Coughing, especially at night, due to aspiration of food remnants

Diagnosis

Several diagnostic tests are used to confirm achalasia:

Esophageal Manometry

High-resolution manometry is considered the gold standard for diagnosis. It measures pressure within the esophagus and at the lower esophageal sphincter. Hallmarks of achalasia include an elevated resting pressure of the LES and the absence of normal peristalsis.

Barium Swallow X-Ray

A barium swallow study often reveals the characteristic appearance of a tapered narrowing at the lower end of the esophagus, sometimes described as a bird beak or champagne glass sign, with dilation of the esophagus above.

Endoscopy

Upper endoscopy (gastroscopy) is primarily used to rule out other conditions such as tumors or inflammation that may mimic achalasia – a condition known as pseudoachalasia.

Treatment

Achalasia cannot be cured, but symptoms can be effectively managed. The goal of all treatments is to reduce pressure at the lower esophageal sphincter and facilitate the passage of food into the stomach.

Pneumatic Dilation

Pneumatic balloon dilation involves the endoscopic insertion and inflation of a balloon into the sphincter to stretch and weaken the muscle fibers. This method is effective and is often used as a first-line treatment option.

Laparoscopic Heller Myotomy

In this minimally invasive surgical procedure, the muscle fibers of the lower esophageal sphincter are surgically cut (myotomy). It is frequently combined with an anti-reflux procedure (fundoplication) to prevent subsequent gastroesophageal reflux.

POEM (Peroral Endoscopic Myotomy)

The POEM technique is a modern, minimally invasive endoscopic procedure in which the esophageal muscles are divided from within the esophageal wall. It is highly effective and increasingly being adopted worldwide.

Medication

Drugs such as calcium channel blockers or nitrates can temporarily lower sphincter pressure. However, they are less effective than procedural interventions and are typically reserved for patients who are not suitable candidates for surgery or endoscopic treatment.

Botulinum Toxin Injection

Endoscopic injection of botulinum toxin into the lower esophageal sphincter can provide temporary symptom relief. The effect typically lasts 6 to 12 months and is best suited for elderly or high-risk patients who cannot undergo other procedures.

Outlook and Prognosis

With appropriate treatment, most patients with achalasia can achieve a significant improvement in quality of life. However, since the condition is not curable, symptoms may recur over time, requiring repeat treatment. In the long term, there is a slightly increased risk of developing esophageal cancer, which is why regular endoscopic monitoring is recommended.

References

Eckardt VF, Gockel I, Bernhard G. Pneumatic dilation for achalasia: late results of a prospective follow up investigation. Gut. 2004;53(5):629-633.
Vaezi MF, Pandolfino JE, Vela MF. ACG Clinical Guideline: Diagnosis and Management of Achalasia. American Journal of Gastroenterology. 2013;108(8):1238-1249.
Ponds FA, Fockens P, Lei A, et al. Effect of Peroral Endoscopic Myotomy vs Pneumatic Dilation on Symptom Severity and Treatment Outcomes Among Treatment-Naive Patients With Achalasia. JAMA. 2019;322(2):134-144.

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