Lower Esophageal Sphincter and Achalasia: Symptoms and Causes

Lower Esophageal Sphincter and Achalasia: Symptoms and Causes

Understanding the role and functionality of the lower esophageal sphincter (LES) is pivotal in the world of gastrointestinal health. As a critical component at the juncture between the esophagus and the stomach, its proper functioning ensures a one-way passage of food and liquid. However, in conditions like achalasia, this vital mechanism falters, leading to a host of difficulties in swallowing, among other symptoms.

By delving into the intricacies of achalasia of the esophagus or achalasia of the cardia, we uncover the complex interplay of symptoms and causes that can significantly impact an individual’s quality of life. The importance of this topic is underscored by the distress and potential health complications that arise when the lower esophageal sphincter does not perform as it should.

In this article, we will explore various facets of achalasia disease, beginning with a thorough achalasia definition and an elucidation of achalasia meaning. Following an in-depth look at the typical achalasia symptoms experienced by sufferers, we’ll investigate the causes and risk factors contributing to this condition.

Diagnostic approaches leading to a definitive identification of this ailment pave the way for a discussion on contemporary achalasia treatment options. Through this comprehensive examination, our aim is to provide a deeper understanding of the challenges and solutions associated with the lower esophageal sphincter and achalasia, empowering readers with knowledge and insights into managing or recognizing this condition.

What is Achalasia?

Achalasia is a rare disorder that primarily affects the esophagus, the tube that carries food from the throat to the stomach. It is characterized by the inability of the esophagus to move food toward the stomach properly, coupled with the failure of the lower esophageal sphincter (LES) to relax adequately during swallowing. This condition leads to significant difficulties in swallowing, known medically as dysphagia, and affects about 1 in every 100,000 people annually.

In individuals with achalasia, the nerve cells in the esophagus degenerate for reasons that are still not entirely understood. This degeneration results in two major functional disturbances. First, the muscles that line the esophagus do not contract normally, which prevents the smooth passage of food through the esophagus to the stomach. Second, the LES, which is a muscular ring at the lower end of the esophagus, fails to open properly during swallowing. Instead of relaxing, it remains tightly closed, acting as a barrier that stops food and liquid from entering the stomach.

Over time, the esophagus may become dilated, leading to an accumulation of food and saliva, which can further complicate the condition. Achalasia typically manifests in adults between the ages of 25 and 60, with a peak incidence in the 40s, and is slightly more prevalent in men than women. The exact causes of the nerve degeneration in achalasia are not clear, but theories include autoimmune responses, viral infections, and genetic predispositions.

Symptoms of Achalasia

Symptoms of achalasia can manifest slowly and may persist for months or even years before a diagnosis is confirmed. The primary symptoms experienced by individuals with this condition include:


Trouble swallowing, known medically as dysphagia, is the most common early symptom of achalasia. Individuals often feel that food or liquid is hard to swallow, getting caught in the esophagus or “sticking” on the way down to the stomach. This can significantly impact one’s ability to eat comfortably and maintain proper nutrition.

Chest Pain

Chest pain is another prevalent symptom among achalasia patients, particularly affecting younger individuals. This pain can be episodic, severe, and may awaken a person from sleep. Interestingly, the occurrence of chest pain does not correlate with the intensity of other esophageal symptoms and is unrelated to the radiographic image of the esophagus. It is noted that chest pain poorly responds to conventional therapy but tends to spontaneously diminish with advancing age.


Regurgitation, where food and liquid back up into the mouth after being swallowed, is a distressing symptom of achalasia. This can occur especially at night and may lead to coughing, choking, and even aspiration, which is the breathing of food or liquid into the lungs.

Other less common symptoms reported include heartburn, cough at night, weight loss or malnutrition due to difficulty eating, hiccups, and difficulty belching. These symptoms collectively contribute to the complex clinical presentation of achalasia and can significantly affect an individual’s quality of life.

Causes and Risk Factors

Understanding the underlying causes and risk factors of achalasia is crucial for effective diagnosis and treatment. This section delves into three primary areas: Genetic Factors, Autoimmune Disorders, and Chagas Disease, each contributing uniquely to the pathogenesis of achalasia.

Genetic Factors

Recent studies highlight the significant role genetics play in achalasia. Familial cases and associations with genetic syndromes suggest a hereditary component to the disease. For instance, mutations in the ALADIN gene and the RET proto-oncogene have been linked to specific syndromes that include achalasia as a symptom. Additionally, certain genetic polymorphisms, such as those in the IL-10 and IL-23 receptor genes, have been found to influence the risk of developing achalasia, pointing to a complex interplay of genetic factors in its pathogenesis.

Autoimmune Disorders

Achalasia may also have an autoimmune origin, as evidenced by the presence of anti-myenteric antibodies and inflammatory T cell infiltrates in the myenteric plexus. The disease shows strong correlations with specific HLA class II antigens, and achalasia patients are significantly more likely to have other autoimmune diseases[39-45]. This autoimmune involvement suggests that immune system dysregulation plays a critical role in the disease’s etiology.

Chagas Disease

Chagas Disease, caused by the protozoan Trypanosoma cruzi, is a known risk factor for achalasia, particularly in endemic areas. The infection leads to the destruction of the esophageal plexus, significantly affecting the motility of the esophagus and the functionality of the lower esophageal sphincter. Studies have shown that Chagas Disease can induce achalasia-like symptoms, complicating diagnosis and treatment in affected populations.

By exploring these factors, we gain a deeper understanding of achalasia’s complex etiology, which is essential for developing targeted therapies and improving patient outcomes.

Diagnosis of Achalasia

To accurately diagnose achalasia, several tests are recommended by healthcare professionals due to the condition’s similarity to other digestive disorders. Here, we delve into the primary diagnostic tools used:


Endoscopy is crucial for diagnosing achalasia, particularly when other conditions that mimic its symptoms, such as upper stomach cancer, need to be ruled out. During this procedure, a thin, flexible tube with a camera is inserted to visually inspect the esophagus and stomach. It often reveals a dilated esophagus with retained food or signs of inflammation. Additionally, biopsies might be taken to check for cancer cells, especially to differentiate achalasia from pseudoachalasia or secondary achalasia.


X-ray imaging, particularly after a barium swallow, is another fundamental diagnostic tool. Patients ingest a barium solution that coats the digestive tract, allowing for clear X-ray images of the esophagus’s shape and functioning. The typical findings include a narrowed region at the LES with a dilated esophagus above this constriction, often described as a “bird beak” appearance.

Esophageal Manometry

Considered the gold standard for diagnosing achalasia, esophageal manometry measures the muscle contractions of the esophagus during swallowing and the relaxation of the lower esophageal sphincter. It identifies specific abnormalities such as high resting pressure in the LES and the absence of peristaltic contractions in the lower esophagus, which are critical for confirming achalasia.

These diagnostic methods collectively provide a comprehensive assessment, enabling accurate diagnosis and differentiation of achalasia from other conditions with similar symptoms.

Treatment Options


In the early stages of achalasia, we might consider medications to help reduce pressure in the lower esophageal sphincter. Medications such as calcium channel blockers and nitrates are typically prescribed because they relax the muscles of the lower esophageal sphincter, allowing food and liquid to pass more easily into the stomach. These medications are taken orally 10 to 30 minutes before a meal to maximize their effectiveness.

Pneumatic Dilation

Pneumatic dilation remains a common nonsurgical treatment for achalasia. This procedure involves inserting a balloon into the center of the esophageal sphincter and inflating it to stretch the sphincter and improve swallowing. Although effective, nearly one-third of patients may require repeat treatments within five years. It’s essential to be aware that the procedure carries a risk of esophageal perforation, which, while rare, is a significant consideration.

Surgical Procedures

Surgical options like Heller myotomy and peroral endoscopic myotomy (POEM) are often recommended for more severe cases. In a Heller myotomy, the muscle at the lower end of the esophageal sphincter is cut, allowing food to pass more easily into the stomach. POEM follows a similar approach but is performed endoscopically through the mouth, making it less invasive. Both procedures have proven effective, but they can lead to complications such as gastroesophageal reflux disease (GERD), which might require additional interventions.


Through the comprehensive exploration of achalasia, its symptoms, causes, diagnostic strategies, and treatment options, this article has sought to shed light on a complex condition affecting the lower esophageal sphincter and esophagus. By delving into the intricacies of achalasia, from its definition and manifestation in symptoms like dysphagia and chest pain to the nuanced understanding of its etiology, including genetic, autoimmune, and infectious factors, we have emphasized the importance of accurate diagnosis and tailored treatment approaches. Such insights not only inform but also empower patients and healthcare providers to tackle this challenging disorder, underscoring the pivotal role of informed medical intervention in enhancing patient outcomes.

The significance of ongoing research and patient education cannot be overstated, as they are key to improving the quality of life for those affected by achalasia. As the medical community continues to explore innovative diagnostic tools and treatment modalities, the prospects for individuals suffering from achalasia look increasingly promising.

The journey towards a deeper comprehension of achalasia and more effective management strategies is ongoing, highlighting the critical need for awareness and engagement with this condition. For patients, caregivers, and healthcare providers alike, staying informed and proactive is crucial in navigating the complexities of achalasia and achieving the best possible health outcomes.

FAQ about achalasia:

1. What is achalasia?

  • Achalasia is a rare disorder of the esophagus where the muscles fail to move food towards the stomach properly, and the lower esophageal sphincter (LES) does not relax adequately during swallowing, causing difficulty in swallowing (dysphagia).

2. What are the common symptoms of achalasia?

  • Common symptoms include difficulty swallowing (dysphagia), chest pain, regurgitation of food and liquids, heartburn, weight loss, and cough at night.

3. What causes achalasia?

  • The exact cause is not fully understood, but it involves the degeneration of nerve cells in the esophagus. Possible contributing factors include genetic predispositions, autoimmune responses, and infections such as Chagas disease.

4. How is achalasia diagnosed?

  • Diagnosis typically involves endoscopy to visually inspect the esophagus, X-rays after a barium swallow to see the shape and function of the esophagus, and esophageal manometry to measure muscle contractions and LES relaxation.

5. What are the treatment options for achalasia?

  • Treatment options include medications (calcium channel blockers and nitrates), pneumatic dilation to stretch the LES, and surgical procedures such as Heller myotomy or peroral endoscopic myotomy (POEM).

6. Can achalasia lead to complications?

  • Yes, if left untreated, achalasia can lead to complications like significant weight loss, malnutrition, and increased risk of esophageal cancer. Additionally, treatments can sometimes result in gastroesophageal reflux disease (GERD).

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