Esophageal achalasia usually sets in between the second and the sixth decade of life. Onset is insidious and symptoms gradually become more severe.

Patients present with dysphagia [1] for both solids and liquids [2], which differentiates it from dysphagias that only involve solids and are characteristic of tumors of the gastroesophageal junction. Regurgitation of food and saliva is another trait of this disease. Affected individuals also describe nocturnal regurgitation that may lead to aspiration. Substernal chest pain associated with meals leads to progressively diminished amounts of ingested food and weight loss [3]. Additional symptoms include heartburn [4] and nocturnal cough caused by acid reflux or retention of food in the esophagus [5].

Affected individuals may also seek medical attention for symptoms of candida esophagitis, esophageal carcinoma or aspiration pneumonia.

The clinical examination in uncomplicated esophageal achalasia does not detect pathologic elements [6].

Tests which are valuable when trying to establish the diagnosis of esophageal achalasia: barium esophagogram, upper gastrointestinal endoscopy, and esophageal manometry.

Barium esophagogram establishes the morphology of the esophagus and the esophagogastric junction and evaluates the peristalsis. The esophagus can be dilated, angulated or tortuous and a narrow gastroesophageal junction with "bird neck" appearance has been described. Barium emptying is impaired and prolonged [7] [8].

Esophageal manometry shows the lack of normal peristalsis [9] with improper lower esophageal sphincter relaxation [10] leading to inadequate emptying in the absence of an obstruction. The esophagus may be atonic or non-contractile. Sphincter relaxation may be impaired completely, partially or not at all [11] [12]. On the other hand, esophageal pressure may be increased in all esophageal areas.

Upper gastrointestinal endoscopy is used in cases where a mechanical obstruction cannot be excluded [13], especially since achalasia symptoms may overlap with those of an infiltrative neoplasm. When trying to enter the stomach, a pressure described as a “pop” may be felt by the endoscopist while passing through the gastroesophageal junction. Finding food or saliva above the gastroesophageal junction is pathognomonic for achalasia. Endoscopic ultrasound is especially useful if a neoplasm is suspected. Furthermore, the mucosal examination is important in differentiating achalasia from acid reflux disease, peptic strictures and candida infection [5]. Endoscopy is especially useful in patients with systemic sclerosis, where manometry also shows abnormal peristalsis.

High-resolution manometry allows a more precise diagnosis of achalasia subtype. Chest X-ray may describe chronic pneumonia due to aspiration and a small or absent gastric air bubble. The trachea may be pushed anteriorly or may be bowed, due to compression by the dilated esophagus. Computer tomography is indicated if complications are suspected, as it identifies areas of mucosal thickening. Esophageal pH measurement is important in ruling out acid reflux disease [14].

Blood workup often shows no abnormal findings.

Treatment for esophageal achalasia aims to relieve symptoms by reducing the pressure at the LES. Options include pneumatic dilation, where a balloon is used to stretch the sphincter, and surgical myotomy, where the muscle fibers of the LES are cut. A less invasive option is peroral endoscopic myotomy (POEM). Medications such as nitrates or calcium channel blockers can be used to relax the LES, but they are generally less effective. Botulinum toxin injections into the LES can provide temporary relief.

The prognosis for esophageal achalasia varies depending on the treatment approach and the patient's overall health. Many patients experience significant symptom relief following treatment, although some may require repeated interventions. Long-term management is often necessary, and regular follow-up is important to monitor for complications such as esophageal dilation or the development of esophageal cancer, which is rare but possible.

The exact cause of esophageal achalasia is unknown, but it is believed to involve the degeneration of nerve cells in the esophagus. This degeneration leads to the loss of peristalsis and the inability of the LES to relax. Some studies suggest a possible autoimmune component, where the body's immune system mistakenly attacks its own tissues. Genetic factors may also play a role, although familial cases are rare.

Esophageal achalasia is a rare condition, affecting approximately 1 in 100,000 people annually. It can occur at any age but is most commonly diagnosed in adults between the ages of 25 and 60. There is no significant gender predilection, and the condition is seen worldwide. Due to its rarity, achalasia is often underdiagnosed or misdiagnosed as other more common esophageal disorders.

The pathophysiology of esophageal achalasia involves the loss of ganglion cells in the myenteric plexus, a network of nerves located between the layers of the esophageal wall. This loss leads to impaired peristalsis and failure of the LES to relax. The exact mechanism of nerve cell degeneration is not fully understood, but it results in the characteristic symptoms of achalasia.

Currently, there are no known methods to prevent esophageal achalasia, as its exact cause remains unclear. Early diagnosis and treatment are crucial to managing symptoms and preventing complications. Patients are encouraged to seek medical attention if they experience persistent swallowing difficulties or other related symptoms.

Esophageal achalasia is a rare esophageal disorder characterized by difficulty swallowing, regurgitation, and chest pain due to the failure of the lower esophageal sphincter to relax. Diagnosis involves imaging and manometry, while treatment options include dilation, surgery, and medications. Although the condition is chronic, effective management can significantly improve quality of life.

If you have been diagnosed with esophageal achalasia, it's important to understand your condition and treatment options. Achalasia affects the esophagus, making it difficult for food to pass into the stomach. Treatment can help alleviate symptoms, and options include procedures to relax the esophageal sphincter or medications. Regular follow-up with your healthcare provider is essential to monitor your condition and adjust treatment as needed.

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