Achalasia – Causes, diagnosis and therapy

Achalasia is a rare disease that is accompanied by pronounced symptoms. Diagnosis is usually difficult and can take several years. Once the diagnosis has been made, there are many treatment options to choose from, which promise to improve the symptoms.

What is achalasia?

Achalasia is a disease of the esophagus. Therefore, the disease is often referred to as esophageal achalasia. In the narrower sense, it is a functional disorder of the esophageal muscles. The disorder mainly affects the lower section of the esophagus.

The esophagus is lined with a layer of smooth muscles. The muscles of the esophagus use regular movements to ensure that ingested food is transported into the stomach along the esophagus.

This transport process is disturbed in achalasia. The lower part of the esophagus, especially in the area of the transition to the stomach (gastroesophageal junction), can no longer relax. As a result, the food can no longer be transported to the stomach, causing severe pain for many sufferers.

How common is achalasia?

In Germany, for example, 1 in 100,000 inhabitants suffers from achalasia. This makes this disease a rare disease. As a rule, achalasia affects women and men equally often. The disease most often occurs in old age. In very rare cases, however, children or even newborns can show achalasia symptoms.

What are the causes of achalasia?

The exact cause of achalasia has not yet been clearly clarified. Doctors assume that the disease is caused by a defect in nerve cells that control the muscles of the esophagus in healthy people. Due to the demise of nerve cells, certain signaling molecules are missing (Neurotransmitter) - especially nitrogen monoxide (NO) and the so-called vasoactive intestinal peptide (VIP).

The muscles of the esophagus are still able to contract, but the lack of nerve cells and messenger substances makes relaxation of the muscles difficult. This leads to an almost permanent contraction, especially of the lower sections of the esophagus, and to the achalasia-typical symptoms.

The transition from the esophagus to the stomach is of particular importance for the development of the symptoms. There is a kind of sphincter here that normally prevents food particles and stomach acid from getting back into the esophagus. This muscle opens in healthy people to allow food to pass from the esophagus into the stomach. In achalasia, on the other hand, this mechanism is disturbed by the high tension of the muscles. Opening the sphincter is significantly more difficult. Accumulation of food that cannot overcome the sphincter creates high pressure in the esophagus. This pressure stretches it, causing severe pain.

What are the symptoms of achalasia?

The most important and most common symptom of achalasia is swallowing and eating difficulties, which doctors summarize under the term “dysphagia”. Some patients may experience mild discomfort when swallowing. In others, the swallowing act is accompanied by severe pain and great discomfort.

In addition to the difficulty in swallowing, the regurgitation of food components, coughing, chest pain, weight loss and a so-called globus feeling also occur in different frequencies. This means that sufferers feel a lump in the throat.

Another important symptom of achalasia is also heartburn.

How does a doctor diagnose achalasia?

The doctor will suspect achalasia on the basis of the symptoms from which sufferers usually have over several years. In order to ensure the diagnosis, extensive diagnostic equipment is also required, which is composed of the following procedures:

• Gastroscopy (Endoscopy)
• X-ray
• Pressure measurement (Manometry)

In the case of ambiguous symptoms, the diagnosis can still be made by means of sectional imaging in the form of a computed tomography (CT).

Gastroscopy

The standard procedure for achalasia is the so-called EGD or esophagogastroduodenoscopy. It is an examination of the esophagus, stomach and small intestine.

The primary purpose of the EGD is to rule out the presence of other diseases that can cause symptoms similar to achalasia. These diseases include, for example, cancer of the esophagus or stomach and inflammatory changes, which can also result in occlusion of the sphincter.

Due to food residues remaining in the esophagus, there is often a pronounced inflammation of the lower esophagus in achalasia. This is also recognized during endoscopy.

X-ray

An X-ray method for the detection of achalasia is based on swallowing a Barium mixture. The patient swallows a contrast medium that shows a clear color on the X-ray image. Immediately afterwards, an x-ray of the upper body and thus also the esophagus is taken.

With achalasia, the constriction of the esophagus in the area of the transition to the stomach is noticeable in this X-ray image. In addition, there can be a significant enlargement of the part of the esophagus lying above, which is also made clear by the contrast medium.

Pressure measurement

Manometry is a pressure measurement. The pressure in the area of the lower esophageal sphincter is determined using a probe. In achalasia there is increased pressure in this area. In addition, missing or reduced movements of the esophagus (peristalsis) are determined. If the doctor collects the patient's symptoms and the results of these examinations, he can diagnose achalasia.

How is achalasia treated?

Several methods are available for the therapy of achalasia:

• Medical therapy
• Pneumatic dilation (expansion of the esophagus with an inflatable balloon)
• Botulinum toxin injection (Botox injection)
• Myotomy (operative expansion of the sphincter)

Medical therapy

Medicinal treatment of achalasia is carried out only very rarely and is only useful in mild cases with less pronounced symptoms. Medications are used that lower the pressure in the esophagus by helping to relax the esophageal muscles.

The main drugs that are used in the treatment of achalasia are nitrates (e.g. isosorbide nitrate) and calcium blockers (e.g. nifedipine).

Pneumatic dilation

Pneumatic dilation is the most important part of the treatment of achalasia and is currently the therapy of first choice. During an endoscopic examination, a inflatable balloon catheter is inserted into the esophagus and positioned in the area of the lower sphincter. This balloon is then inflated and expands the too narrow esophagus.

Such treatment is successful in up to 85 percent of cases. Five years after the pneumatic dilation, about 40-75 percent of patients are symptom-free.

Botulinum toxin injection

Botulinum toxin, also popularly known as “Botox” is an active ingredient that inhibits the contractility of muscles.

In the treatment of achalasia, the botox is injected into the lower esophageal sphincter. As a result, the muscle can no longer contract, resulting in relaxation. In many cases, such treatment can normalize the pressure in the esophagus and thus successfully treat the symptoms.

A botox injection, however, has a duration of action of only about six to nine months. Subsequently, a new injection must be given to continue to achieve freedom from symptoms.

Myotomy

A myotomy is an operational procedure, which is also used in the treatment of achalasia. In this operation, part of the sphincter is cut. As a result, the muscle contracts less and the esophagus relaxes.

However, these operations are mostly reserved for difficult cases that cannot be successfully treated with pneumatic dilation (see above). One of the most significant complications that occur with this type of surgery is permanent reflux disease.