ERNICA covers the following diseases within the esophageal diseases working group.
Congenital Esophageal Stenosis
Congenital esophageal stenosis (CES) is manifested as an intrinsic narrowing of the esophagus present at birth.
Eosinophilic esophagitis (EoE) is an inflammation of the esophagus (the tube connecting the mouth to the stomach), caused by a specific white blood cell – the eosinophil.
Esophageal atresia is a birth defect in which the esophagus, which normally connects the mouth with the stomach, is interrupted. The medical definition of ‘atresia’ is the following: absence or closure of a natural passage of the body.
Different types of malformation
The normal anatomy of the esophagus and respiratory tract shows a direct connection of the esophagus to the stomach and the windpipe to the lungs. There is no connection between the two. The figure below shows the different types of Esophageal atresia.
Type A: Esophageal atresia without tracheoesophageal fistula (8%):
With this type, a large part of the esophagus, so-called long-gap, is missing and there is no connection to the trachea. This distance has to be bridged: depending on the distance to be bridged, the surgical technique is determined.
Type B: Esophageal atresia with a proximal tracheoesophageal fistula (1%):
In this case, not only is part of the esophagus missing, but there is also a connection (fistula) between the upper (proximal) part and the trachea. Saliva or food goes via the fistula to the lungs, instead of to the stomach. The lower part of the esophagus ends blindly. The atresia is often long-gap.
Type C: Esophageal atresia with a distal tracheoesophageal fistula (85%):
This is the most common type. There is a connection between the lower (distal) part of the esophagus and the windpipe, which means a direct connection between the stomach and the airways. The upper half of the esophagus ends blindly. During breathing the child suffers from the accumulation and overflow of saliva from the closed "pouch". In addition, the lungs can be irritated from gastric fluid flowing through the connection with the windpipe in the lower part of the esophagus.
Type D: Esophageal atresia with both a proximal and a distal tracheoesophageal fistula (1%):
Here we find a combination of both types B and C. This type has a double fistula connection: the upper and lower Esophageal stumps both end into the trachea. Through these two connections, both saliva and stomach contents can go to the lungs.
Type E: Tracheoesophageal fistula without atresia (H-fistula) (4%):
With this type, the esophagus has normally developed but there is a connection between the esophagus and the windpipe. This type is usually only noticed a few days or even weeks after birth because there is a passage to the stomach. This allows a child to drink normally. However, food and saliva may enter the lungs, causing the child to choke or having trouble breathing.
Type F: Esophageal stenosis (1%):
There is no connection between the esophagus and the trachea, but the esophagus is constricted. The narrowing can be so severe that nutrition and/or saliva cannot pass through to the stomach.
Three consensus statements on Esophageal Atreasia are developed within ERNICA
1. Management of Patients with Esophageal Atresia and Tracheoesophageal Fistula: Diagnostics, Preoperative, Operative, and Postoperative Management.
2. Management of Patients with Esophageal Atresia and Tracheoesophageal Fistula: Follow-up and Framework.
3. Perioperative, surgical and long-term management of patients with long-gap esophageal atresia.
An Introduction to OA/TOF | What is OA TOF? [EA/TEF]
Esophageal Dilation for children with Esophageal Atresia
LIFE - Lifelong Follow up for Esophageal atresia
A sphincter, which is a kind of ’valve’, controls the passage of food from the esophagus to the stomach. It is a bundle of muscle fibres that opens up when food goes from the esophagus to the stomach. Immediately after that, the sphincter closes to prevent the backward flow of gastric juices into the esophagus.
In the case of achalasia, this lower esophagus muscle does not work properly: it does not relax sufficiently, so that food remains in the esophagus after swallowing. This is because the nerves that control this sphincter are affected. Another characteristic of achalasia is the lack of the normal rhythmic contractions of the esophagus (wave movements) that propel the food from top to bottom into the esophagus. Probably this is also due to an impairment of the nerves.
Achalasia can occur at any age, but usually starts between 20 and 40 years. It can remain unnoticed for a long time and gradually increase over the years.
WHAT IS EOSINOPHILIC OESOPHAGITIS?
Eosinophilic oesophagitis (EoE) is a chronic inflammatory disease of the oesophagus, characterised by frequent vomiting, difficulties in swallowing (dysphagia), difficulties in eating and drinking, and abdominal pain. From a biopsy, an infiltration of the epithelium by white blood cells (eosinophils) is observed. Eosinophils are key cells in the innate immune system of the gastrointestinal tract. They protect the organism against parasitic infections and are usually present throughout the entire gastrointestinal tract, with the exception of the oesophagus.
Eosinophilic oesophagitis is a rare cause of dysphagia, but its prevalence is unknown.
HOW IS THIS PATHOLOGY DIAGNOSED?
The disease often evolves over several years before being diagnosed. This delay in diagnosis is mainly due to adaptation by the subject, who will create strategies to eat more slowly, chew foods well and use liquids to aid in swallowing food.
The reasons for seeking medical advice and the main complaints are difficulties in swallowing solids, food bolus impaction or gastro-oesophageal reflux symptoms.
The diagnosis of eosinophilic oesophagitis is suspected based on clinical or endoscopic information and is confirmed with oesophageal biopsies. Infiltration of the oesophageal mucosa by eosinophils is a mandatory symptom for making the diagnosis; however, it alone is not sufficient to define the disease.
WHAT IS THE TREATMENT?
The therapeutic objective is to obtain clinical and histological remission. Histological remission would in particular enable a decrease in the risk of evolution towards stenosis. First-line therapy is based on proton pump inhibitors, which help to relieve the symptoms and reduce inflammation in approximately 40% of patients.
In case of failure, treatment is based on swallowed topical steroids, but instructions for use must be clearly explained to the patient.
Dietary therapy can also help obtain clinical and histological remission in approximately 75% of cases.