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Achalasia is a rare oesophageal disorder that causes the lower oesophageal muscle to not relax during swallowing. The result: Swallowing is increasingly causing problems, so that the food seems to get stuck in the throat.
When the disorder develops as a so-called primary achalasia, as if by itself - not another disease - the nerve cells that normally control the exact movement of the esophagus during swallowing have failed. The exact causes are still unknown.
Rarely, the oesophageal dysfunction also arises as a result of another disease (so-called secondary achalasia or pseudoachalasia): For example, an esophageal cancer or stomach cancer as well as the tropical disease called Chagas disease may be responsible for the dysphagia.
Most of the achalasia occurs in middle age. Their typical symptoms are:
First, the symptoms are mild and occur only occasionally. Later, the achalasia becomes more noticeable: Then the eating process is increasingly disturbed, so that it can lead to a gradual weight loss. Part of the focus is on pneumonia, which can be caused by food particles that have been pushed into the airways.
In order to clarify the symptoms associated with achalasia, a reflection (endoscopy) of the esophagus is useful. In addition, a pressure measurement in the esophagus (so-called manometry) and an X-ray examination with contrast agent are important for the diagnosis.
For the treatment of achalasia, various methods are possible. Everyone has the same goal: to lower the pressure in the lower oesophageal sphincter and to ensure that the food can quickly and completely pass from the esophagus to the stomach. This relieves the symptoms.
To treat a mild achalasia, initially sufficient medication. An extension (or dilatation) of the lower esophageal muscle, however, usually shows better treatment results. An operation can also be a long-term remedy. However, achalasia is not curable.
Achalasia is a motility disorder of the esophagus - that is, the motility (motility) of the esophagus is compromised. This malfunction is identified as follows:
The esophagus is a muscle tube lined with a mucous membrane inside. Within the muscle layer there are interconnected nerve cells (the so-called Auerbach plexus). They control the exact movements of the esophagus during swallowing. These movements move the chyme completely from the mouth to the stomach. The acidic environment prevalent there disinfects the food, strong movements mix them with enzymes and crush them further.
The lower esophageal sphincter between the stomach and the esophagus prevents, like a valve, the chyme and aggressive hydrochloric acid flowing back into the esophagus: with muscle tension and relaxation, it ensures that the food reaches the stomach when swallowed, but that no gastric contents can flow back.
Thus, the gastric entrance to an achalasia is so tightly closed that the food can not get completely into the stomach - the bite literally gets stuck in the throat. This causes increased pressure in the esophagus, causing the esophagus to expand.
The achalasia is rare: Every year, it reappears in just over 1 in 100,000 inhabitants. Basically, this can happen at any age - most often, however, the malfunction of the esophagus develops between the 25th and 60th year of life.
Depending on why achalasia develops, physicians refer to esophageal dysfunction as primary (or idiopathic - that is, with no apparent cause) or as secondary (i.e., as a result of another disease).
The cause of primary achalasia is that nerve cells in a nerve network (so-called Auerbach's plexus or myenteric plexus) perish in the area of the lower esophagus. This so-called neurodegeneration leads to the fact that the esophageal musculature is no longer sufficiently supplied by nerves. The consequences:
The exact trigger for the causative neurodegeneration is not yet clear. Probably the primary achalasia is an autoimmune disease and thus has hereditary causes: First, hereditary risk factors for their emergence have now been demonstrated. On the other hand, Achalasia can occur along with other changes - examples include:
The typical symptoms of achalasia are:
Initially, the symptoms of achalasia are mild and occur only occasionally. Only in the course of the disease, the symptoms gradually increase until they have a disabling effect in everyday life.
The swallowing disorders are the first signs of achalasia. First of all, they occur mainly with solid food: Those affected feel that the food gets stuck in the throat and often drink so that the chyme can continue to slide.
In advanced achalasia, it is also typically difficult to swallow liquid food. In addition, in advanced stages spontaneous regurgitation (with food particles escaping from the esophagus back into the oral cavity) occurs when the patients lie down. There is a risk that the food particles get into the respiratory tract, which can cause pneumonia (so-called aspiration pneumonia).
This can lead to repeated pneumonia in advanced achalasia.
Achalasia can also be associated with increased movements of the esophagus. In particular, if the esophagus is greatly enlarged, this so-called hypermotile form often triggers spasmodic pain behind the breastbone, which occasionally misinterpret the sufferers as heart complaints.
Because achalasia disturbs the eating process, it is often associated with weight loss over time: Typically, those taking it slowly (over months to years) from no more than ten percent of their initial weight.
Achalasia also causes pain during swallowing: This happens when the esophagus becomes inflamed due to the food remaining in the esophagus for a longer period of time (so-called retention oesophagitis).
In achalasia, the diagnosis often only succeeds years after the first symptoms have occurred. The reason: In the early stages, the dysfunction of the esophagus usually causes only few symptoms.
To diagnose achalasia, various examinations of the esophagus are suitable. These include:
Food debris, inflammation, or visible narrowing of the lower esophagus may indicate achalasia. However, endoscopy - a reflection of the esophagus and the stomach - is of particular importance in the diagnosis in order to reliably rule out other possible causes of the symptoms (such as esophageal cancer). In some cases, the doctor also takes tissue samples during this examination in order to examine them for changes and abnormalities (so-called biopsy).
In order to assess an achalasia in the X-ray, you get before the X-ray, a contrast agent (Breischluck), which makes the course of the esophagus visible: The doctor can then recognize in X-ray a tapering tightness at the transition to the stomach. Depending on the stage of the disease, the area of the esophagus is dilated above the narrowness (so-called champagne glass shape).
Manometry is also helpful in cases of suspected achalasia: using manometry, the doctor can measure the pressure in the esophagus. If the lower oesophageal sphincter (esophageal sphincter) does not relax when swallowing, this suggests achalasia.
Manometry allows conclusions about the movements of the esophagus (peristalsis). Depending on the mobility of the esophageal musculature one differentiates between three forms of achalasia:
Achalasia always requires therapy as soon as it becomes noticeable. The treatment aims to relieve the symptoms of esophageal dysfunction. There are various treatment methods available for this, but they all have one and the same purpose:
However, the cause of achalasia can not be eliminated: it is not possible to remedy the disturbed nervous system of the esophageal musculature. This means that the disease is not curable.
In the early stages of achalasia, medicines that reduce the pressure in the lower esophageal muscle and so sufficiently alleviate the symptoms are suitable for therapy. Suitable agents are also used for hypertension and coronary heart disease: calcium antagonists and nitrates. The medication should be taken about half an hour before eating.
In the long term, however, the effect of the drugs diminishes - then other methods should be considered for the treatment of achalasia. If the medication causes side effects (such as lowering blood pressure, dizziness, headache), it may also be necessary to discontinue it earlier.
In achalasia, the therapy can also be in a balloon dilatation (dilatation = extension): Here, the doctor introduces a balloon in the esophagus to the stomach. The balloon mechanically dilates the narrowed lower esophageal muscle.
Balloon dilatation is considered to be the most effective non-operative method to treat achalasia: after single administration, swallowing disorders improve in most cases over months, in half of those affected even over years. Then it may be necessary to repeat the dilation. However, especially in children and adolescents, the effect of treatment often lasts only limited time.
Treating the achalasia by balloon dilatation has the advantage that the procedure is performed during a refraction of the esophagus and stomach and no surgery is necessary. However, complications may occur during treatment: it is possible for the esophagus to rupture during dilatation (3%). In rare cases (2-5%), germs can enter the chest cavity and cause inflammation of the middle coat (mediastinitis). This is helped by antibiotics.
In the case of achalasia, an endoscopic injection of botulinum toxin is also suitable for therapy: Botulinum toxin is a toxin produced by a specific bacterium (the causative agent Clostridium botulinum). This highly toxic substance triggers botulism in humans - a dangerous food poisoning. However, when injected into the lower oesophageal muscle (the oesophageal sphincter: the valve between the stomach and the esophagus), it blocks the nerves there, reducing the occlusion pressure.
The doctor places the syringe during a reflection of the esophagus and stomach. In nine out of ten cases, the botulinum toxin relieves the symptoms of achalasia for a while. However, the symptoms often recur within a year of treatment.
Overall, endoscopic injection of botulinum toxin in achalasia is less risky than balloon dilatation and is particularly useful for the elderly with poor health but is statistically less successful.
If achalasia does not improve due to non-operative measures, surgery may be necessary. The surgeon splits the musculature of the lower esophagus from the outside (so-called myotomy). The procedure can be performed either via a classic abdominal incision (transabdominal) or via a laparoscopy (laparoscopic, minimally invasive surgery).
All therapy procedures used in achalasia, which successfully lower the occlusion pressure in the lower esophageal muscle, can cause aggressive gastric juice to flow back into the esophagus more easily, creating a reflux disease. In the operation, this problem can be corrected immediately by a supplementary so-called fundoplication: The surgeon puts a muscle cuff ring around the upper stomach, which is to prevent reflux (reflux) permanently. Another advantage of the operation compared to endoscopic procedures is its long-term effect lasting up to 10 years.
Achalasia is chronic - spontaneous healing does not occur in the esophageal dysfunction. Typically, swallowing disorders increase slowly and steadily over years or decades. With a suitable treatment, however, it is usually possible to alleviate the symptoms satisfactorily.
Untreated, achalasia, however, causes the esophagus to dilate increasingly (so-called dilation) - up to the so-called megaesophagus with complete loss of function of the esophagus. In addition, in the advanced stage (due to the typical belching), pulmonary complications or (due to the food remaining in the esophagus for longer) can lead to esophagitis, which in turn can cause ulceration or bleeding.
In general, achalasia is associated with an increased risk of cancer: Approximately four to six percent of those affected develop esophageal carcinoma after many years of course.
Thus, the risk of esophageal cancer in achalasia is about 30 times higher than in the general population. Therefore, in the aftercare regular endoscopies for control are important.
You can not prevent achalasia because the exact cause of the disturbed esophageal function is unknown. However, if you are one of those affected, you can reduce the risk of some typical comorbidities (such as esophagitis) by, for example, avoiding alcohol and nicotine.
In addition, it is advisable in achalasia, the esophagus for follow-up periodically endoscopically controlled in order to detect possible long-term consequences (esophageal cancer) early.
17.10.2021
According to the latest findings, achalasia can be carried out very successfully with gentle endoscopic treatment. The method is just as successful as a surgical procedure that was previously considered the standard procedure. This was the result of a multi-center clinical study led by the University Medical Center Hamburg-Eppendorf (UKE).
Achalasia is a rare disease of the esophagus that can cause considerable difficulty in swallowing. "The cause is a permanent cramping of the sphincter located at the lower end of the esophagus, so that food does not reach the stomach or only incompletely", explains Prof. Dr. Thomas Rösch, Director of the Clinic for Interdisciplinary Endoscopy at the UKE. Conventional treatment methods are either repeated balloon expansions, which are carried out under X-ray control during an endoscopy, or an operation using keyhole surgery, in which the sphincter of the esophagus is severed.
"Peroral endoscopic myotomy, called POEM, is a newly developed form of treatment that enables the esophageal sphincter to be severed only during endoscopy, i.e. without surgical intervention," explains study director Dr. Yuki Werner. What is unusual about this new procedure is that, despite the severing of the muscular barrier, hardly any bacteria from the esophagus get into the abdominal cavity, so that severe and life-threatening inflammation does not occur.
In a clinical study carried out at eight treatment centers in six European countries, endoscopy and surgery were compared with each other in 221 patients. The course was followed for two years. Result: Both procedures were almost equally successful (endoscopy 83.0 percent versus surgery 81.7 percent), which was reflected in almost identical improvements in esophageal function and quality of life. Acute complications occurred less frequently with endoscopic treatment (2.7 percent) than with surgical treatment (7.3 percent). Dr. Werner: "However, after two years the reflux rate was higher in endoscopically treated patients. We will have to investigate this further in the future."
Conclusion Prof. Rösch: "The introduction of the endoscopic working technique POEM has triggered a surge in innovation in the gastroenterological and visceral surgical areas worldwide. Comparative studies with established therapy methods are of great importance for clinical practice and thus for the patients treated."
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