Achalasia

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What is Achalasia?

Esophagus or food pipe is a muscular tube that connects the mouth to the stomach. Achalasia is also referred to as esophageal achalasia or achalasia cardia, in which the smooth muscles constituting the muscle ring (lower esophageal sphincter or LES) around the opening of the esophagus do not relax.

This makes it very difficult for food and liquids to pass into the stomach, thereby causing accumulation in the esophagus, which can be accompanied by esophageal aperistalsis i.e. the absence of rhythmic contractions that propels food down the esophagus. Achalasia may have some common symptoms as in heartburn and gastroesophageal reflux disease (GERD) such as trouble swallowing food and backflow of food to the throat. However, achalasia is different from the other two.

Epidemiology of Achalasia

The incidence rate of achalasia is 1.6 per 100,000. Male and females are affected equally. The disease can occur at any age, although it usually occurs in middle age and old age. It rarely occurs before adolescence.

What are the Causes of Achalasia?

Causes of achalasia include multiple factors, highlighted below:
  • Nerve Degeneration: The nerves innervating the esophagus can degenerate and lead to dysfunction of the esophageal muscles.
  • Viral Infections: Certain viral infections can damage the nerves of the esophagus, which can occur many years before the actual onset of achalasia.
  • Autoimmunity: Chronic inflammation of the esophagus can lead to autoimmunity, where the immune cells attack the body’s own cells.
  • Heredity: Although very rare and without conclusive evidence, it is believed that achalasia could run in families.
  • Cancer: Symptoms of cancer of the esophagus or upper stomach can mimic those of achalasia.
  • Chagas Disease: This is a rare disease prevalent in South America, which can cause achalasia. Also called American Trypanosomiasis, it is caused by the parasite Trypanosoma cruzi and spread mostly by Triatomine bugs.
Causes of Achalasia

What are the Symptoms & Signs of Achalasia?

Achalasia symptoms include the following:
  • Difficulty Swallowing: Achalasia makes it very difficult to swallow both solids and liquids, technically termed as dysphagia.
  • Regurgitation: This is the backflow of food and liquids, which can result in vomiting and violent coughing, often causing choking.
  • Chest Pain: This generally occurs after consumption of food. Severe chest pain resulting from achalasia can mimic a heart attack, for which it is termed as cardiospasm. The pain can spread to the back, arms, and neck, resembling angina.
  • Weight Loss: Weight loss can occur without any apparent cause, but may be due to poor nutrition, resulting from the condition.
Symptoms and Signs of Achalasia

What are the Complications of Achalasia?

Several complications can occur as a result of achalasia, which are highlighted below:
  • Chronic Chest Infections: This is a major complication arising from achalasia, which is very difficult to treat due to repetitive attacks.
  • Cancer: Although rare, cancer of the esophagus remains a risk factor for patients who do not go in for an early diagnosis and treatment, due to absence of any major discomfort.
  • Aspiration Pneumonia: While sleeping, the patient may accidentally inhale the esophageal contents into the lungs, which can cause aspiration pneumonia.
  • Esophagitis: Untreated achalasia can cause inflammation of the esophagus, technically termed as esophagitis.
  • Esophageal Perforation: To much stretching can cause tearing (perforation) of the esophagus.

How do you Diagnose Achalasia?

Achalasia diagnosis is carried out by achalasia radiology and other modalities:
  • Barium Meal X-Ray: In this procedure, the patient swallows food containing barium, which is radio-opaque. Once this coats the inner lining of the esophagus, X-ray photographs are taken, which show any blockage in the esophagus.
  • Gastrografin X-Ray: In this procedure a radio-opaque liquid is swallowed prior to the X-ray, which shows the outline of the esophagus and any irregularities that may be present.
  • Esophageal Manometry: In this investigation, a narrow plastic tube is inserted through the mouth or nose, which measures the pressure exerted by the esophageal muscles and the degree of relaxation of the LES during swallowing.
  • Endoscopy: In this procedure, a narrow tube having a camera and miniature surgical scissors / blade attached at its tip (endoscope) is used to visualize the interior of the esophagus. If required, small tissue samples can be taken using the miniature scissors (biopsy). Endoscopy is particularly useful for diagnosing Barrett’s esophagus.
Diagnostic Options for Achalasia

How do you Treat Achalasia?

Achalasia treatment modalities include the following:
  • Pneumatic or Balloon Dilation: In this procedure a balloon is inserted into the esophageal sphincter and inflated to dilate it. However, this procedure usually needs to be repeated, at least after 6 years.
  • Botox: Botox (Botulinum toxin) is a muscle relaxant that can be injected directly into the esophageal sphincter using an endoscope. However, the injections need to be repeated, which makes it difficult to perform surgery later on, if required. Therefore, the procedure is recommended for patients in whom surgery and balloon dilation is contraindicated.
  • Medications: Medicines such as nitroglycerin or nifedipine are sometimes recommended before meals to relax the esophageal sphincter. However, there are significant side-effects of these drugs and therefore of limited therapeutic efficacy.
  • Surgery: Achalasia surgery involves the following:
    • Heller Myotomy: This procedure is named after Ernst Heller, who first performed this surgery in 1913. In this procedure, the surgeon cuts the lower end of the esophageal sphincter to release the tension and allows it to expand during passage of food into the stomach. The procedure uses minimally invasive laparoscopic surgery under general anesthesia. A complication of Heller myotomy is the development of Gastroesophageal Reflux Disease (GERD).
    • Fundoplication: This procedure is usually performed along with the Heller myotomy to prevent the occurrence of GERD. The surgery involves wrapping the top part of the stomach around the esophageal sphincter to prevent the reflux of the stomach contents.
    • Peroral Endoscopic Myotomy (POEM): This is an endoscopic surgery, where an endoscope is inserted into the esophagus and a small incision is made in the inner surface of the esophagus. Then the lower part of the sphincter is cut, as in Heller myotomy.
Achalasia diet after surgery usually involves nutrient-rich fluids that can easily pass through the esophagus into the stomach.

How do you Prevent Achalasia?

Achalasia prevention is difficult for most of the causes of achalasia. However, timely treatment can prevent many of the complications. Secondary prevention requires that achalasia patients eat slowly, chew thoroughly, drink plenty of water along with food, and avoid eating near bedtime.

References:

  1. Achalasia - Medline Plus, U.S. National Library of Medicine, National Institutes of Health - (https://medlineplus.gov/ency/article/000267.htm)
  2. Achalasia - Mayo Clinic - (https://www.mayoclinic.org/diseases-conditions/achalasia/symptoms-causes/syc-20352850)
  3. Swallowing Problems: Achalasia - (https://my.clevelandclinic.org/health/diseases/17534-swallowing-problems-achalasia)
  4. O’Neill OM, Johnston BT, Coleman HG. Achalasia: A review of clinical diagnosis, epidemiology, treatment and outcomes. World J Gastroenterol. 2013 Sep 21; 19 (35): 5806-12. DOI: 10.3748/wjg.v19.i35.5806. PMID: 24124325.

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