Achalasia of the cardia is a chronic neuromuscular disease characterized by the absence or insufficient reflex relaxation of the lower esophageal sphincter, as a result of which there is an intermittent violation of the esophagus, caused by a narrowing of its section in front of the entrance to the stomach (called “cardia”) and expansion of the upstream areas. It can develop at any age.
Disorders of peristalsis are expressed in chaotic contractions of the smooth muscles of the middle and distal esophagus. Their amplitude can be sharply reduced or, conversely, increased.
The prevalence is 10 cases per 100,000 population, and the incidence is 1 per 100,000 population. Idiopathic achalasia occurs with the same frequency in both men and women, most often diagnosed between the ages of 25 and 60 years.
Symptoms and course of achalasia cardia
The clinical picture of achalasia cardia is characterized by a slow but steady progression of all the main symptoms of the disease:
This is the earliest and most constant symptom of achalasia cardia. But with this disease, dysphagia has some important features:
- Difficulty in passing food does not appear immediately, but after 2-4 seconds from the start of swallowing.
- The delay in the food bolus is felt by the patient not in the throat or neck, but in the chest.
- There are symptoms characteristic of dysphagia caused by motor disorders at the level of the pharynx (food entering the nasopharynx or tracheobronchial, occurring directly during swallowing, hoarseness, hoarseness, etc.)
Dysphagia in achalasia cardia occurs when both solid and liquid foods are consumed. In most cases, with achalasia of the cardia, the manifestations of esophageal dysphagia gradually increase, although this process can be extended for quite a long time.
This is the passive entry into the oral cavity of the contents of the esophagus or stomach, which is a mucous liquid or undigested food eaten a few hours ago. Regurgitation (regurgitation) usually increases after taking a large enough amount of food, as well as when the torso is tilted forward or at night when the patient takes a horizontal position (“wet pillow syndrome”).
It develops in 60% of patients and is associated either with a significant overflow of the dilated esophagus with food, or with spastic contractions of smooth muscles. Pain can be localized behind the sternum, in the interscapular space and often radiates to the neck, lower jaw, etc.
In patients with a pronounced violation of the passage of food through the esophagus (3-4 stages of achalasia of the cardia), as a rule, a noticeable weight loss is detected, despite the fact that many patients have an increased appetite. Most often, weight loss is associated with a conscious restriction of food intake due to fear of chest pain and dysphagia after eating.
With the progression of the disease and a significant narrowing of the lumen of the esophagus (stage 4 achalasia of the cardia), patients may experience symptoms of the so-called congestive esophagitis : nausea, belching rotten, increased salivation, bad breath.
These symptoms are associated with stagnation and decomposition of food in the esophagus. Occasionally, patients with achalasia of the cardia develop heartburn due to the enzymatic breakdown of food in the esophagus itself with the formation of a large amount of lactic acid.
Heartburn in achalasia cardia is not associated with the occurrence gastroesophageal reflux (throwing the acidic contents of the stomach into the lumen of the esophagus), since with this disease there is a sharp increase in the tone of the lower esophageal sphincter, which prevents the occurrence of gastroesophageal reflux.
Stages of achalasia of the cardia
Stage 1 (functional)
It is characterized by an intermittent violation of the passage of food through the esophagus due to short-term violations of the relaxation of the lower esophageal sphincter during swallowing and a moderate increase in its basal tone. Expansion of the esophagus is absent.
It is marked by a stable increase in the basal tone of the lower esophageal sphincter, a significant violation of its relaxation during swallowing and a moderate expansion of the esophagus above the site of constant functional spasm of the lower esophageal sphincter.
There are cicatricial changes in the distal part of the esophagus, which is accompanied by a sharp organic narrowing (stenosis) and a significant (at least 2 times) expansion of the overlying sections.
There is a pronounced cicatricial narrowing of the esophagus in combination with its expansion, S-shaped deformities and the development of complications – esophagitis and paraesophagitis.
What are the causes of achalasia cardia?
The exact cause of achalasia cardia is still unknown. Three hypotheses are considered as the main ones: genetic, autoimmune and infectious.
Genetic: the most common cause of achalasia cardia in children is a mutation in the AAAS12q13 gene, which leads to the development of an autosomal recessive disease – Allgrove syndrome, or AAA syndrome, characterized by the development of achalasia, alacrymia and Addison’s disease. Also, achalasia of the cardia occurs in children with Down syndrome (approximately 2%), Rosicky and Robin.
Autoimmune hypothesis: According to some data, in patients with achalasia of the cardia, the risk of developing autoimmune diseases is 3.6 times higher than in the general population. In addition, circulating autoantibodies are found in patients with cardia achalasia, most often antibodies to nicotinic acetylcholine receptors, P / Q- and N-type calcium channels, glutamic acid decarboxylase (21), skeletal muscles (26%), as well as antibodies, known as anti-Hu (antineuronal autoantibodies), which confirms this hypothesis.
Infectious hypothesis: for many years, Chagas disease has been considered as one of the etiological factors in the development of achalasia of the cardia. The second phase of this disease is the penetration of trypanosomes into the heart and the muscular layer of the esophagus, where they accumulate. The intermuscular plexuses of the esophagus are mainly affected, which subsequently leads to degenerative changes in them and a violation of the motor function of the esophagus.
How to diagnose achalasia cardia?
Due to similar symptoms, achalasia can be misdiagnosed as, for example, gastroesophageal reflux disease (GERD), diaphragmatic hernia, and even psychosomatic disorders.
The following studies are used to diagnose achalasia:
with barium contrast of the esophagus.
is a key test for establishing a diagnosis. This study allows you to objectively assess the motor activity of the pharynx, esophagus, upper and lower esophageal sphincter. Using a manometric catheter, pressure waves are measured in various parts of the esophagus and stomach during the act of swallowing.
of the esophagus and stomach. Particular attention is paid to the inspection of the gastroesophageal junction at the moment when the endoscope passes through the unrelaxed lower esophageal sphincter.
What are the treatment options available for achalasia cardia?
Achalasia Cardia treatment focuses on relaxing or stretching open the lower esophageal sphincter so that food and liquid can move more easily through your digestive tract.
Specific treatment depends on your age, health condition and the severity of the achalasia.
Non-surgical options include:
- Pneumatic expansion. A balloon is inserted endoscopically into the center of the esophageal sphincter and inflated to widen the opening. This outpatient procedure may need to be repeated if the esophageal sphincter does not stay open. Nearly a third of people treated with balloon dilation need repeat treatment within five years. This procedure requires sedation.
- Botox (botulinum toxin type A). This muscle relaxant can be injected directly into the esophageal sphincter with an endoscopic needle. Repeat injections may be necessary, and repeated injections may make it difficult to perform surgery later if necessary.
Botox is generally recommended only for people who are not good candidates for pneumatic dilation or surgery due to age or general health. Botox injections do not usually last more than six months. A marked improvement from Botox injections can help confirm the diagnosis of achalasia.
- Medicines. Your doctor might suggest muscle relaxants such as nitroglycerin (Nitrostat) or nifedipine (Procardia) before you eat. These drugs have limited treatment effect and serious side effects. Medications are generally considered only if you’re not a candidate for pneumatic dilation or surgery, and Botox hasn’t helped. This type of therapy is rarely indicated.
Surgical options to treat achalasia include:
- Heller myotomy.The surgeon cuts the muscle at the lower end of the esophageal sphincter to allow food to pass more easily into the stomach. The procedure can be performed non-invasively (laparoscopic Heller myotomy). Some people who have a Heller myotomy may later develop gastroesophageal reflux disease.
To prevent future problems with gastroesophageal reflux disease , a procedure known as a fundoplication may be done at the same time as a Heller myotomy. In fundoplication, the surgeon wraps the upper part of the stomach around the lower part of the esophagus to create an anti-reflux valve, which prevents acid from backing up into the esophagus (gastroesophageal reflux disease). Fundoplication is usually done with a minimally invasive (laparoscopic) procedure.
- Oral endoscopic myotomy. In the oral endoscopic myotomy procedure, the surgeon uses an endoscope inserted through the mouth and down the throat to create an incision in the inner lining of the esophagus. Then, as in a Heller myotomy, the surgeon cuts the muscle at the lower end of the lower esophageal sphincter.
Oral endoscopic myotomy may also be combined with or followed by a posterior fundoplication to help prevent gastroesophageal reflux disease. Some patients who have an oral endoscopic myotomy and develop gastroesophageal reflux disease after the procedure are treated with daily oral medication.
Achalasia of the cardia is considered as a precancerous disease, since cancer develops in 3–8% of patients with cardiospasm and achalasia of the cardia, and the likelihood of its occurrence increases with the duration of the disease, not only in the cardia, but also in the altered esophagus. In this regard, timely detection and treatment of patients is necessary. The duration of remission after pneumatic dilatation for 5–10 years averages 75–90%.