Achalasia K22.0

Achalasia (the "A" stands for "not", and the Greek word "chalasie" for slackening, sagging) describes a chronic progressive neurodegenerative motility disorder of the esophagus due to loss of inhibitory neurons of the myenteric plexus (Auerbach). This leads to impaired relaxation of the lower esophageal sphincter (UES). This motor dysfunction causes the sphincter to the stomach to open inadequately. At the same time, peristalsis of the esophagus is impaired. Dysphagia is the main symptom. At the same time, the muscle pump of the esophagus, which is necessary for food transport, no longer functions adequately. As a result, those affected eventually have increasing difficulty swallowing food.

Rare, incidence is 2/100,000 population. Prevalence: 27/100.000 population

Primary achalasia: Caused by a loss of neurons due to an abnormal response of the immune system. For example, due to viral infections (respiratory infections). This loss is not reversible.

Secondary achalasia: In this case, other diseases are causative in the malfunction of the esophagus . These include esophageal cancer and carcioma of the stomach. when the tumor narrows the junction between the esophagus and stomach.

Rare is the autosomal recessive inherited triple A syndrome (Allgrove syndrome) - mutation in the AAAS- gene, which codes for the "nuclear pore protein" ALADIN (Triple-A stands for: achalasia, alacrimia, adrenal insufficiency=M.Addison) (Pogliaghi G et al. 2020). Overlap with Sjögren's syndrome is possible.

Middle age (3.5. decade of life); in principle, however, the disease can occur at any age. Women develop the disease about as often as men.

Characteristic of achalasia are dysphagia and pain behind the breastbone. Patients need to drink something after eating. Symptoms are increasing over time. Regurgitation of food

Therapy and diagnostics of achalasia require close interdisciplinary cooperation of gastroenterology and surgery as well as modern and very high quality diagnostics and treatment.

Examinations

Pressure measurement (manometry): A high-resolution esophageal manometry in the functional diagnostics of gastroenterology is the most important examination in the diagnosis of achalasia. It determines the pressure conditions in the esophagus The values provide information about how the muscular activity of the esophagus is. Manometry also shows whether the lower esophageal muscle remains tense during swallowing and does not open fully.

Gastroscopy: This provides evidence of narrowing.

EndoFLIP: This is a highly specialized examination performed by specialists in functional diagnostics during endoscopy of the esophagus and stomach. It allows additional information on the distensibility of the transition from the esophagus to the stomach and residual function of the esophagus.

X-ray pre-swallow: with recording of dynamic X-ray images The transport of fluid across the esophagus is visualized. If achalasia is more advanced, the esophagus looks like a champagne glass on the X-ray - there is a typical narrowing at the transition to the stomach, while the area above is dilated.

Weight loss, risk of aspiration pneumonia;.Retetion esophagitis with risk of carcinoma formation.

Pneumatic balloon dilatation

In specialized centers, peroral endoscopic myotomy (POEM) is possible.

Alternatively: Endoscopic injection of botulinum toxin into the UES (temporary effect).

The choice of treatment depends on the extent of the symptoms, but also on the general state of health and age.

Aftercare: Regular control endoscopies (risk of carcinoma).

Achalasia is a chronic disease that progresses if left untreated. Basically, achalasia is not curable. Treatments aim to reduce resistance in the esophageal sphincter.

1. Pogliaghi G et al. (2020) Triple-A Syndrome (TAS): An In-Depth Overview on Genetic and Phenotype Heterogeneity. Protein Pept Lett 27:1192-1203
2. Schlottmann F et al (2018) Esophageal achalasia: current diagnosis and treatment. Expert Rev Gastroenterol Hepatol 12:711-721.