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Achalasia: Symptoms, Causes and Treatment

Achalasia is a serious, progressive disease of the esophagus that is one of the rare diseases. Read more about symptoms, causes, diagnosis and therapy of achalasia.

Synonyms

Idiopathic achalasia, esophageal achalasia, cardia achalasia

Definition

Achalasia is a very rare chronic esophagus (esophagus) condition caused by a malfunction of the lower esophageal sphincter (UES). The lower esophageal sphincter is a muscle that separates the esophagus from the stomach. A lack of muscle relaxation or excessive pressure at this transition leads to painful swallowing problems. In the further course, the esophagus can completely lose its natural mobility. Then less and less chyme gets into the stomach. This leads to malnutrition and severe weight loss. If left untreated, the risk of complications, including esophageal cancer, increases . Operative procedures are primarily used in the therapy of achalasia.

Frequency

Achalasia is one of the rare diseases (orphan diseases ). In Germany there is a new incidence per 100,000 inhabitants (incidence). The exact number of patients with the disease is not known. In different studies there are data between 5 and 10 achalasia patients per 10,000 adults (prevalence).

Mostly people in middle age, i.e. between the ages of 30 and 50, are affected. Sometimes children, adolescents or the elderly get sick. About 5 percent of those affected are children.

Symptoms

Typical symptoms of achalasia are swallowing disorders and cramp-like pain when eating. Heartburn and acid regurgitation are added at later stages of development . Pain behind the sternum, which is often misinterpreted as chest tightness ( angina pectoris ) , is also typical . The symptoms increase when lying down because undigested gastric contents ( reflux ) flow back unhindered. This can also result in significant sleep disorders.

This is how the symptoms of achalasia arise

Normally, fluid and food from the esophagus are passed through a type of valve (lower esophageal sphincter) by opening and reclosing muscles in the stomach. After swallowing, it is important that the lower esophageal sphincter opens so that the food can pass into the stomach. The muscles relax at the stomach entrance, which is tightly closed regardless of the swallowing act. This system is controlled via nerves in the gastrointestinal tract.

  • Hypermotile or over- moving achalasia: The lower esophageal sphincter can no longer relax in achalasia. The muscles remain in a kind of permanent tension and prevent the passage of food into the stomach. The esophagus then increases the pressure of its muscles to push its contents through the tense sphincter. This stage is called the hypermotile or over-moving form of achalasia.
  • Hypomotile or sub movable achalasia: Since the resistance is too high in the long term, the increased pressure eventually leads to an enlargement of the esophagus (megaesophagus). The overstretched tissue loses functionality and the normal passage of food or liquid is permanently disturbed. Physicians call this stage hypomotile or sub movable achalasia.
  • Amotile or immobile achalasia: As the disease progresses, the esophagus becomes sluggish and sluggish. In the end, it resembles a functionless sack that is completely motionless. Then the final stage, amotile or immobile achalasia, is reached. The inoperative esophagus leads to malnutrition and severe weight loss.

Complications

By the reflux of stomach contents into the esophagus is also the risk that it enters the trachea and further into the lungs and a lung infection (pneumonia) triggers. In addition, the long lingering of chyme and aggressive stomach acid in the esophagus can lead to malignant changes in the cells. The risk of esophageal cancer (esophageal carcinoma) is therefore significantly increased in the case of prolonged achalasia.

Causes

Medical professionals distinguish between two forms of achalasia: primary and secondary achalasia.

According to the current state of research, primary achalasia is probably an autoimmune disease, i.e. a disease with a malfunction of the body’s immune system. Various studies have demonstrated an antigen (HLA antigen HLA-DQw1) and antibodies that damage the autonomic nervous system in achalasia patients. Earlier studies had also suggested that measles , herpes virus, or human papillomavirus (HPV) infection caused primary achalasia. However, these assumptions are now disproved. It is still being discussed whether psychological or hereditary causes play a role in the development of achalasia.

Secondary achalasia (also known as pseudoachalasia) is caused by cancer of the esophagus or stomach. Another cause is infection with Chagas disease, a tropical disease.

Examination

If you suffer from difficulty swallowing, heartburn or acid regurgitation for a long time, you should see your doctor. That can be your family doctor. If necessary, he will refer you to an internist (specialist in internal medicine) or gastroenterologist (specialist in gastrointestinal disorders) for further examinations.

Three diagnostic methods are used to diagnose achalasia:

  1. Esophagus and gastroscopy (esophagoscopy and gastroscopy): With this routine examination, the doctor can visually examine the condition of the esophagus and stomach entrance. In addition, the endoscopic examination is used to take samples of abnormally changed tissue if necessary. These tissue samples are then examined in the laboratory, for example for tumor cells. In the early phase of achalasia, gastroscopy (gastroscopy), which is common in heartburn or stomach problems, can be completely unremarkable. This is also a reason why the diagnosis of achalasia is often made very late.
  2. Esophageal manometry: This examination method is the diagnostic tool of choice for achalasia. The pressure in sections of the esophagus is measured. In healthy people, the changes in pressure associated with movement of the esophagus (peristalsis) are even. Changes in this regular esophageal peristalsis and insufficient relaxation of the esophageal sphincter can confirm the diagnosis of achalasia.
  3. Esophageal swallow examination: This diagnostic procedure is an X-ray examination. It is preferably used in the advanced course of the disease. The doctor observes how a paste enriched with contrast medium (barium paste) moves through the esophagus. Typical of an achalasia finding is, for example, if the swallow is massively blocked up in front of the stomach entrance and the esophagus is expanded like a champagne glass.

Treatment

There is a wide range of therapeutic procedures for achalasia therapy. However, these can only alleviate the symptoms. There is currently no causal therapy with healing.

Medicinal achalasia treatment

In the medical treatment of achalasia, depending on the severity of the disease and the therapy goal, either muscle-relaxing or muscle-paring agents are used. However, drug therapy is only suitable for about 10 percent of people with achalasia.

  • Muscle-relaxing medications are intended to release the muscle tension of the lower esophageal sphincter for a short time and thus open the stomach entrance. Active substances from the group of nitrates such as isosorbide dinitrate and calcium antagonists such as nifedipine are used for this. However, these agents are not primarily designed for the treatment of achalasia. Rather, they are medications for high blood pressure and cardiovascular diseases , which generally lead to relaxation of smooth muscles. The uncomfortable side effects of these drugs include dizziness , headache, or low blood pressure . In addition, the effects on achalasia are rather small.
  • Muscle-paralyzing drugs for achalasia contain the neurotoxin botulinum toxin, which is colloquially known as botox. In drug achalasia therapy, botox is injected into the esophageal sphincter during an endoscopic procedure. This partially paralyzes and relaxes the cramped muscle. The biggest disadvantage of this method: The botox effect is not persistent and must be repeated at regular intervals.

Operative therapy of achalasia

In 90 percent of cases, surgery promises the best chance of long-term relief from the complaints. However, the procedures described below sometimes have to be repeated after a few years.

Operation of the esophageal sphincter

The most promising is an operation in which the muscular wall of the esophagus is split from the outside along the length of the narrowing. The inner surface remains intact. This lowers the occlusion pressure of the lower esophageal sphincter. But that has unpleasant consequences. Food and fluid from the stomach easily enter the esophagus, with the risk of reflux disease . That is why surgeons usually combine the split with the formation of a small stomach cuff that is sewn in a ring around the upper stomach. This measure prevents or at least significantly reduces reflux. The surgery can usually be minimally invasive via abdominal mirroring(Laparoscopy). A large cut is then omitted. Sometimes abdominal surgery is still necessary.

Mechanical expansion of the esophageal sphincter

Mechanical expansion of the esophageal sphincter with a small balloon by mirroring (balloon dilation) is also established. In many cases, however, the sphincter gradually narrows over the course of a few years, so that the expansion must be repeated. With each of these interventions, the risk of scarring of the tissue increases, which limits the elasticity and thus functionality. In addition, with every intervention there is a minimal risk (2%) that the wall of the esophagus is pierced and its contents reach the chest. This can lead to life-threatening inflammation. As a rule, however, this method works without serious complications.

End-stage therapy

In the final stages, it usually only helps to surgically remove the esophagus. A piece of the large intestine is then used to replace the esophagus. Fortunately, this method only has to be used very rarely today.

Forecast

Achalasia is not curable. With all conservative (drug) treatments, however, the symptoms can be alleviated. After an operation, the long-term success rates are more than 90 percent.

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