achalasia

Achalasia: description

In the achalasia it is a disease of the esophagus, in which the patients have difficulty in swallowing. During swallowing, esophageal contraction movements are usually synchronized exactly with the time the lower sphincter opens: “La Ola Wave” -like movements of the esophagus transport the food pulp through the esophagus. At the lower end, the sphincter relaxes at just the right time and the food can enter the stomach. In achalasia, on the one hand, the contraction movements (peristalsis) of the esophagus are weakened overall and, moreover, are no longer exactly matched to the lower sphincter. On the other hand, the sphincter is permanently tense (gr. Achalasis = missing lethargy), so it can not expand enough.

As a consequence, the porridge is no longer transported through the esophagus by the disturbed peristalsis. In addition, it accumulates in front of the permanently tense lower esophageal sphincter, which causes the typical achalasia symptoms. These include, in particular, difficulties in swallowing solid food (dysphagia) and the strangulation of undigested food particles from the esophagus into the oropharynx.

Achalasia: who is affected?

Achalasia is rare. About one in every 100,000 people suffer from achalasia every year. Most people are affected in middle age, ie between the 30 and 50th year of life. Sometimes, however, children, adolescents or older people get sick. If achalasia occurs in childhood, a genetic cause such as the so-called triple A syndrome is often responsible.

Distinction between primary and secondary achalasia

Doctors differentiate between primary and secondary achalasia. Primary achalasia is the most common form. Doctors speak of primary achalasia if no clear causes of achalasia can be identified. Also how a primary achalasia develops is so far unclear. In the case of less frequent secondary achalasia, however, there are clear causes such as esophageal cancer or Chagas disease. These diseases damage the nerves in the area of ​​the esophagus, so that the normal function of the esophageal contractions and the esophageal sphincter is disturbed. Typical of secondary achalasia is that swallowing symptoms increase much faster compared to primary achalasia. Of the secondary achalasia elderly affected more often.

Achalasia: symptoms

The typical signs of achalasia are dysphagia and regurgitation. There are also other complaints such as pain behind the sternum, weight loss and bad breath.

Achalasia symptoms – difficulty swallowing

Initially, the symptoms are usually low and occur only sporadically. Patients have only discomfort when swallowing solid food in the early stages of the disease. So they have the feeling during swallowing that the food gets stuck in their throat and drink accordingly. An increased amount of drinking leads to the fact that the food can get better into the stomach. In addition, some sufferers feel a pressure sensation in the chest region behind the breastbone. In an advanced stage of the disease, liquids can no longer be swallowed or only with difficulty. This poses significant problems for those affected. On the one hand, the dysphagia is emotionally stressful, on the other hand, those affected lose a lot of weight, which significantly reduces their physical performance.

Achalasia symptoms – regurgitation of undigested food particles

In the late stage, achalasia leads to unintentional belching. Often undigested food remains from the esophagus back into the mouth. The spontaneous regurgitation of undigested food particles is particularly common when patients lie down and the force of gravity no longer acts as a “brake”.

Some patients suffer from a pronounced feeling of fullness and must also vomit. Patients lack the bitter taste in their mouth, which is typical for reflux disease, since the food in achalasia did not yet have any contact with gastric acid. Since in achalasia the lower esophageal sphincter is permanently tense, those affected also have no or only very rarely heartburn.

Many patients swallow ingested undigested food as it enters the trachea (aspiration). This happens especially at night when the patients are lying down. The reflux of food can lead to nocturnal cough attacks. In addition, the food particles in the trachea and the bronchi (aspiration) can cause pneumonia.

Other achalasia symptoms

With pronounced achalasia, those affected lose weight. The decrease in body weight occurs in primary achalasia slowly over months or years and is usually no more than ten percent of the original body weight. In secondary achalasia, weight loss can be more pronounced and, moreover, progress in a much shorter period of time.

Some patients also have severe pain behind the sternum (retrosternal pain) due to their achalasia, especially when they swallow. When very severe achalasia pain is at the forefront, doctors sometimes refer to it as “hypermotile achalasia.”

Because the porridge builds up in front of the permanently tense lower esophageal sphincter, food remains in the esophagus. These are colonized by bacteria and degraded. As a result, sufferers may suffer from pronounced halitosis (foetor ex ore, halitosis).

Achalasia: causes and risk factors

The act of swallowing is a complicated, finely tuned process that requires timely precise control of the muscles of the esophagus by nerve impulses. If this control fails, the peristalsis of the esophagus is disturbed and the lower esophageal sphincter will not relax.

The causes of primary achalasia are not yet fully understood. There are indications that achalasia is the result of the destruction of certain nerve tracts and nerve centers (ganglion cells) in the area of ​​the esophagus. In particular, the so-called myenteric plexus (Auerbach plexus) seems to be affected. This is a fine network of nerves in the muscular wall of the esophagus, stomach and intestines.

How it comes to the destruction of the nerve cells in the primary achalasia, is not yet known. Researchers consider, for example, an infection or autoimmune disease for possible causes. In secondary achalasia, on the other hand, science has a more concrete idea of ​​why nerve cells die out: typical causes of secondary achalasia are esophageal cancer (especially cardiac carcinoma) and Chagas disease. Both diseases damage the nerve cells in the wall of the esophagus. Chagas disease is a parasitic disease transmitted by bedbugs, which occurs mainly in Central and South America and in Germany rarely plays a role in the development of achalasia.

Achalasia is also inherited in rare cases

If children and adolescents are already affected by achalasia, a genetic cause is often responsible for this. For example, achalasia is one of the main symptoms of the so-called triple A syndrome (AAA syndrome). The disease is inherited as an autosomal recessive trait and includes, in addition to achalasia, other symptoms such as adrenal insufficiency and the inability to produce tears (alacrimia). Also in Down syndrome (trisomy 21), achalasia is frequently observed. About two percent of people with Down syndrome suffer from it. In addition, rare genetic disorders such as familial visceral neuropathy and achalasia-microcephaly syndrome are associated with achalasia.

Achalasia: examinations and diagnosis

The right contact for suspected achalasia is your family doctor or a specialist in internal medicine and gastroenterology. By providing a detailed description of your symptoms, you are already providing the doctor with valuable information about your current state of health (anamnesis). The attending physician could ask you the following questions:

• Do you have difficulty swallowing, for example the feeling that food gets stuck in your throat?
• Does this feel improve when you drink liquid?
• Do you sometimes have to dig up undigested food leftovers?
• Does it hurt when you swallow?
• Have you lost weight?
• Did you notice halitosis?

Afterwards, the doctor will especially examine your abdomen and upper body and illuminate the oropharynx to detect any changes. He will also feel your neck. He can, for example, detect enlarged lymph nodes on the neck (indicating an inflammation or a tumor) and scan the thyroid gland. In order to be able to diagnose achalasia safely, further investigations are usually necessary.

Complementary investigations in case of suspected achalasia

Achalasia can often be diagnosed by the typical symptoms in combination with imaging techniques such as esophageal reflection and the so-called Breischluck. If necessary, the function of the lower oesophageal sphincter can also be checked by oesophageal manometry.

Esophageal and gastroscopy (esophagoscopy and gastroscopy)

With the help of a reflection through an endoscope, one can assess the mucosal structure in the esophagus and in the stomach. In addition, the reflection is used to exclude other diseases of the esophagus and stomach such as inflammation, scarring or cancer. The patient should not eat or drink for six hours before the examination so that the doctor has a clear view of the mucous membranes during the examination. Normally, the esophagus is then completely free, with achalasia, however, food remains are often found in the esophagus. If achalasia is suspected, a tissue specimen to exclude a malignant tumor should always be taken during the endoscopic examination.

Esophageal Breischluck investigation

The so-called Esophagus Breischluck is a method for displaying the swallow with the help of an X-ray machine and a contrast medium. The patient swallows a porridge enriched with contrast medium (mostly barium sulphate). During swallowing, the patient’s neck and chest are X-rayed. In the case of achalasia, the X-ray image often shows a vesicular glass-like transition between the esophagus and the stomach entrance. The stomach entrance is thinned like a stalk while the esophagus in front of it is widened like a funnel. This champagne glass phenomenon arises because the porridge builds up in front of the bottleneck of the lower oesophageal sphincter, causing the esophagus to expand in front of the constriction over time.

Pressure measurement of the esophagus (esophageal manometry)

By means of a pressure measurement of the esophagus (manometry) the peristaltic movements of the esophagus and the function of the esophageal sphincter can be determined. For this purpose, a probe with several measuring channels is advanced gastric outlet, and the pressure during the swallowing process is determined at various points in the esophagus. In achalasia, the normal contraction movements of the esophagus are uncoordinated and weakened and the lower esophageal sphincter permanently exerts excessive pressure on the probe because it does not relax.

Achalasia: treatment

Achalasia treatment is needed if the disorder causes discomfort. To alleviate the symptoms of achalasia, various options are available. With the help of medications or special interventions usually an improvement of the complaints can be achieved. The aim of the therapy is to reduce the increased pressure of the lower esophageal sphincter. A complete cure is hardly possible, because once damaged nerve cells regenerate only limited.

Achalasia – medicines

Drug therapy only helps in about ten percent of patients. The active ingredient nifedipine – originally a drug for the treatment of hypertension, provides relaxation of the esophageal sphincter. The drug group of nitrates has a similar effect. The medication is taken about 30 minutes before food intake. Thus, the lower esophageal sphincter relaxes in time and the food is easier to get into the stomach. However, with prolonged treatment, the efficacy of the drugs diminishes and further procedures are needed.

Achalasia – special procedures

The narrowed transition between the esophagus and the stomach can be extended by various methods. Of these, balloon dilatation is the method of first choice. An exception are young patients with achalasia, where surgery is usually more useful.

Injection with botulinum toxin directly into the lower esophageal sphincter is also often performed. An operative stretching of the transition between esophagus and stomach is performed only in a few cases.

Balloon dilation (balloon dilatation)

The narrowing of the transition from the esophagus to the stomach can be stretched with the help of a balloon. Balloon dilatation can be performed during gastroscopy, so no surgery is necessary. The doctor pushes a thin tube over the mouth into the esophagus to the bottleneck (stenosis) at the stomach entrance. There, the little balloon is inflated at the end of the tube. As a result, the stenosis is stretched, in 60 percent of those affected leads to an improvement of the symptoms. In rare cases (about five percent), complications may rupture the esophagus or the stomach entrance. If bacteria invade the wound, an esophagitis can develop. In addition, balloon dilatation has to be repeated in about half of the cases after a few years.

Botox injection

Injection of diluted botulinum toxin (Botox) into the narrowed oesophageal sphincter may also be performed during gastroscopy. Most people know Botox as nerve crippling poison from the beauty medicine. In the esophageal sphincter, it blocks the nerves, causing the sphincter to relax. This type of achalasia therapy improves symptoms in 90 percent of sufferers. However, achalasia symptoms reappear in many patients after only a few months. There are not enough long-term studies to be able to assess the importance of this form of treatment of achalasia safely.

Surgery (myotomy)

If the patient can not be adequately helped with the above measures, surgery could be used as well. This is particularly useful in young patients, since in this age group, the balloon dilatation often has only a bad effect.

In myotomy, the lower, circular esophageal sphincter muscle is severed. Since the mucous membrane must not be injured, this muscle transection can only be done by an access path from outside the esophagus. The surgeon most often chooses access via a thoracic (transthoracic) or upper abdominal (transabdominal) incision. Myotomy is a very effective method. In addition to the transection of the esophageal sphincter, an anti-reflux operation is performed in the same operation. It is designed to prevent sour gastric juice from flowing back into the esophagus.

Achalasia: disease course and prognosis

Achalasia is a chronic disease in which spontaneous healing does not occur. The typical achalasia swallowing symptoms usually increase over years or even decades. With the help of various treatment options, however, the complaints can usually be sufficiently alleviated.

Complications of achalasia

Untreated, achalasia can lead to a steadily increasing dilatation of the esophagus. In extreme cases, a so-called mega-esophagus forms, which is no longer able to transport the chyme from the mouth to the stomach. The increased eructation may cause inflammation of the esophagus (esophagitis) or complications of the lungs (irritating cough, hoarseness and pneumonia).

Achalasia is associated with an increased risk of oesophageal cancer (esophageal carcinoma). The risk for achalasia patients to develop a malignant tumor of the esophagus is 30 times higher than in healthy people. This is due to the fact that with constant loading and irritation of the oesophageal mucosa constantly new cells must be formed to repair the oesophageal mucosa. The increased cell division rate means an increased risk of degeneration of the cells. achalasiaPatients should therefore be regularly examined even after successful treatment.