Brief overview
- Symptoms: Difficulty swallowing with recurrent aspiration, regurgitation of undigested food from the esophagus or stomach, retching, pain behind the breastbone, weight loss.
- Course of disease and prognosis: If left untreated, symptoms worsen but are easily treatable. Drug therapies often require further follow-up.
- Examinations and diagnosis: esophagoscopy and gastroscopy, esophageal pre-swallow examination by X-ray, pressure measurement of the esophagus.
- Treatment: Medication, botulinum toxin injection, balloon dilatation, endoscopic myotomy, surgery (laparoscopic myotomy), nutritional therapy if necessary.
- Prevention: since the exact causes of achalasia are largely unknown, there are no recommendations for prevention.
What is achalasia?
During swallowing, the contraction movements of the esophagus (peristalsis) are normally synchronized exactly with the time of opening of the lower sphincter: “La-Ola-wave”-like movements of the esophagus transport the food pulp through the esophagus. At the lower end of the esophagus, the sphincter then relaxes at exactly the right time and the food first enters the first, upper section of the stomach (cardia).
As a consequence, the food pulp is no longer transported normally through the esophagus due to the impaired peristalsis. In addition, it backs up in front of the permanently strained lower esophageal sphincter, causing the typical achalasia symptoms. These include, in particular, difficulty swallowing solid food (dysphagia) and regurgitation of undigested esophageal debris from the esophagus into the mouth and throat.
Who is affected?
What are the symptoms of achalasia?
The typical achalasia symptoms are difficulty swallowing (dysphagia) and regurgitation of undigested food. Other symptoms include pain behind the breastbone, weight loss and bad breath.
Difficulty swallowing
In the advanced stage of the disease, the symptoms intensify. Affected persons have difficulty swallowing liquids without effort. This poses considerable problems for those affected. On the one hand, the swallowing disorder is emotionally very stressful, and on the other hand, those affected lose a lot of weight, which significantly reduces their physical performance.
Regurgitation of undigested food residues
Some affected persons suffer from a strongly pronounced feeling of fullness and also have to vomit. These individuals lack the bitter taste in the mouth typical of heartburn (reflux disease), as the food has not yet had contact with the stomach acid in achalasia. In addition, since the lower esophageal sphincter is permanently tense in achalasia, the affected individuals have no heartburn or very little heartburn.
Other achalasia symptoms
When achalasia is pronounced, affected individuals lose a lot of weight. In primary achalasia, the loss of body weight occurs slowly over months or years and is usually no more than ten percent of the original body weight. In secondary achalasia, the weight loss is sometimes even more pronounced and also progresses over a much shorter period of time.
Because the food pulp builds up in front of the permanently strained lower esophageal sphincter, food residues remain in the esophagus. These are colonized and broken down by bacteria. As a result, some affected individuals suffer from pronounced bad breath (foetor ex ore, halitosis).
Is achalasia curable?
What is the life expectancy with achalasia?
Achalasia disease requires regular medical control, which usually lasts a lifetime. If achalasia is treated, life expectancy is not limited in principle.
Complications of achalasia
Achalasia patients have a significantly increased risk of esophageal cancer: Their risk 30 times higher than healthy individuals. This is due to the fact that when the esophageal mucosa is continuously stressed and irritated, new cells must constantly form to repair the damaged mucosa of the esophagus.
Causes and risk factors
The cause of aachalsia is impaired control of the esophageal muscles: The act of swallowing is a complicated, finely tuned process that requires precisely timed 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 no longer relaxes.
Doctors distinguish between primary and secondary achalasia.
The causes of primary achalasia are not yet fully understood. Doctors also speak of idiopathic achalasia. Primary achalasia occurs more frequently than secondary achalasia.
It is not known what triggers the death of the nerve cells. Researchers consider, for example, infection or autoimmune disease as possible causes.
Secondary achalasia
Genetic causes
When achalasia already affects children and adolescents, a genetic cause is often responsible. For example, achalasia is one of the main symptoms of the so-called triple A syndrome (AAA syndrome). The disease is inherited in an autosomal recessive manner and, in addition to achalasia, includes other symptoms such as adrenal insufficiency and the inability to produce tears (alakrimia).
Examinations and diagnosis
The right person to contact if you suspect achalasia is your family doctor or a specialist in internal medicine and gastroenterology. A detailed description of the symptoms already provides the doctor with valuable information about the current state of health (anamnesis). The attending physician will ask questions such as:
- Do you have difficulty swallowing, for example, do you feel that food gets stuck in your throat?
- Do you occasionally have to regurgitate undigested food residues?
- Do you have pain when swallowing?
- Have you lost weight?
- Have you noticed bad breath?
Supplementary examinations if achalasia is suspected
If the symptoms are not clear, imaging procedures such as esophagoscopy and the so-called porridge swallow method help to diagnose achalasia. If necessary, the doctor also checks the function of the lower esophageal sphincter with esophageal manometry.
Esophagoscopy and gastroscopy (gastroscopy and esophagoscopy)
The patient must not eat or drink anything 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 clear, but in cases of achalasia, esophageal debris is often still found in the esophagus. If achalasia is suspected, the physician usually takes a tissue sample during the endoscopic examination to rule out a malignant tumor.
Esophageal Breast Swallow Examination
If achalasia is present, the x-ray often shows a champagne glass-shaped transition between the esophagus and the entrance to the stomach. The entrance to the stomach is thinned out in the shape of a stem, while the esophagus in front of it is widened in the shape of a funnel. This champagne glass shape occurs because the food pulp builds up in front of the constriction of the lower esophageal sphincter, causing the esophagus in front of the constriction to dilate over time.
Pressure measurement of the esophagus (esophageal manometry) can be used to determine the peristaltic movements of the esophagus and the function of the esophageal sphincter. For this purpose, a probe with several measuring channels is advanced to the stomach outlet and the pressure is determined at various points in the esophagus during the swallowing process.
Based on the results of manometry, achalasia can be divided into three subgroups:
- Type 1: Classic achalasia with little or no measurable tension of the esophageal muscles (no peristalsis present).
- Type 2: Panesophageal achalasia with undirected tensions of the entire esophageal musculature without relaxation during more than 20 percent of swallows
The subgroups play an important role especially for the choice of therapy.
Achalasia: Therapy
Achalasia treatment is necessary when discomfort results from the disorder. Various options are available to alleviate achalasia symptoms. With the help of medications or special interventions, it is usually possible to achieve an improvement in the symptoms. The goal of therapy is to reduce the increased pressure of the lower esophageal sphincter.
Drug therapy only helps in about ten percent of patients. The active ingredient nifedipine – originally a drug (calcium anatgonist) used to treat high blood pressure – causes the esophageal sphincter to relax. The group of active ingredients known as nitrates has a similar effect. Patients take the medication about 30 minutes before eating. This causes the lower esophageal sphincter to slacken in time, and food passes more easily into the stomach.
Botox injection
The narrowed transition between the esophagus and stomach can be widened, for example, by injecting botulinum toxin (Botox) directly into the lower narrowed esophageal sphincter. Doctors perform the injection of diluted Botox during a gastroscopy. Most people know Botox as a nerve-paralyzing toxin used in beauty medicine. It blocks the nerve pathways in the esophageal sphincter, whereupon the sphincter slackens.
Endoscopic therapy
Endoscopic, non-invasive or minimally invasive procedures such as balloon dilatation or POEM method are among the most effective procedures in the therapy of achalasia. An exception is young patients with achalasia, in whom surgery is usually more appropriate in the long term.
Balloon dilatation (balloon dilation)
The doctor advances a thin tube through the mouth into the esophagus to the narrow point (stenosis) at the entrance to the stomach. There he places the small balloon that sits at the end of the tube and inflates it. This stretches the narrowing, which initially improves the symptoms in about 85 percent of those affected.
Unlike surgery, the dialation method does not create an antireflux device. This results in gastroesophageal reflux disease (GERD) in 20 to 30 percent of those affected.
Perioral endoscopic myotomy (POEM).
In the POEM method, the physician cuts the lower, ring-shaped esophageal sphincter with the help of an endoscope like the one used in gastroscopy. Since the mucosa must not be damaged as much as possible, he guides the endoscope under the mucosa within a channel to the lower esophageal sphincter. This procedure is a very simple and less invasive procedure.
Myotomy is a very effective method; according to recent studies, the success rate is about 90 percent, at least for short-term observations. Patients with grade 3 achalasia respond best. Since no reflux protection is applied with this method either, GERD develops in most sufferers after a longer period of time.
Surgery
If patients cannot be helped sufficiently with the above measures, surgery is often necessary. This is particularly useful for young sufferers under the age of 40, as balloon dilatation works poorly in the long term for many sufferers in this age group.
Laparoscopic Heller myotomy (LHM)
Doctors also place a fundus cuff to protect against reflux. This cuff partially encloses the transition from the esophagus to the stomach and constricts it, so that there is little or no GERD after such a surgical procedure.
Nutrition therapy for achalasia
Specialized nutrition therapy helps some people with neurogenic dysphagia, such as achalasia, eat more easily when they have difficulty swallowing. Primarily, doctors recommend eating texturally modified foods and thickened liquids. The goal of therapy is also to reduce the bolus size so that food is easier to swallow.
A problem with a diet of this type is the general fluid intake, which is reduced in some sufferers due to the thickening of drinks. In addition, there is sometimes an undersupply of important nutrients. Drink enough to prevent fluid deficiency and consult your doctor or dietician regularly. In this way, the nutrition plan can be adjusted in good time if deficiency symptoms occur.
Because the exact causes of achalasia are largely unknown, there are no recommendations for prevention.
