Overview of Tracheoesophageal Fistula

A tracheoesophageal fistula is a condition in which the esophagus (the tube connecting the stomach with the back of the throat) and the trachea (windpipe) are connected. This abnormal connection can allow food to enter into the airways and lungs resulting in serious breathing complications. Tracheoesophageal fistula (TEF) is most commonly a congenital defect, meaning that it occurs while a baby is developing inside the mother's womb and is present at birth. However, more rarely, a TEF can be acquired due to trauma or malignancy.

Congenital Tracheoesophageal Fistula

In the United States congenital TEF occurs in approximately 1 out of every 2000 to 4000 live births. It is usually diagnosed within the first year of life with the incidence of adults presenting with congenital TEF being extremely rare. This is due to the fact that TEF can cause fatal complications. Prior to the development of modern surgical techniques to repair the condition, TEF often resulted in the death of the affected infant.

There are different types of congenital TEF and it is categorized depending on where the esophagus is connected to the trachea and whether or not esophageal atresia (EA) is present. Esophageal atresia is where the esophagus is not completely formed. In most cases, the esophagus is not connected to the stomach but just ends in a pouch.

Many children who are born with TEF have other congenital anomalies as well. Congenital conditions that have been associated with TEF include:

• Down syndrome
• Heart problems including ventricular septal defect, patent ductus arteriosis, tetralogy of Fallot, atrial septal defect, and right-sided aortic arch
• Kidney or urethral malformations such as horseshoe kidney or hypospadias
• Anomalies of the stomach, intestines, or anus
• Musculoskeletal abnormalities including scoliosis, polydactyly, or syndactyly

Tracheoesophageal fistula may be more common among premature infants. Polyhydramnios (excessive amniotic fluid) during pregnancy may be a sign of TEF.

Acquired Tracheoesophageal Fistula

Trauma or Illness

Injury to the neck or thorax can also cause tracheoesophageal fistula although this is rare. In these cases the TEF usually appears a few days after the initial injury as the result of tissue necrosis (death).

Trauma leading to TEF can be caused by the insertion of an endotracheal tube to assist with breathing. Endotracheal tubes are commonly inserted in a medical setting to assist with breathing when a person undergoes general anesthesia or is experiencing breathing difficulty due to injury or illness. You are more likely to get a TEF involving a breathing tube if you spend a long time on a ventilator.

Tracheoesophageal fistulas can also rarely occur during a tracheostomy, a procedure where an incision is made in the neck to insert a breathing tube into the trachea. This occurs in approximately 0.5% of all patients who undergo a tracheostomy.

Infections, particularly tuberculosis, have also been known to cause TEF. The condition is also associated with ruptured diverticula.

Cancer

Lung cancer and esophageal cancer can lead to a tracheoesophageal fistula. The incidence is rare in both types of cancer but is higher in esophageal cancer than lung cancer. While uncommon, acquired TEF due to malignancy are very serious and often fatal.

Symptoms

Symptoms of tracheoesophageal fistula may include:

• Infants may have white frothy mucus around the nose and mouth
• Difficulty breathing, abnormal breathing sounds
• Cyanosis (blue-tinged skin caused by decreased oxygen levels)
• Difficulty feeding, including gagging or choking while trying to eat
• Coughing
• Excessive drooling or spitting up
• Abdominal distention
• Fever (if food has been aspirated into the lungs)
• In the rare event that an adult presents with congenital TEF they may have had recurring aspiration pneumonia

Diagnosis

Congenital TEF may be suspected during pregnancy if ultrasound shows excessive amniotic fluid is present, there is no fluid inside of the stomach, the abdomen is very small, there is an esophageal pouch, and the weight of the fetus is lower than it should be. While these signs may cause your healthcare provider to suspect esophageal atresia (EA) and/or TEF, they can also occur in other health conditions and are not definitive.

Following birth, congenital TEF is usually diagnosed within the first 12 days of life. Esophageal atresia can be diagnosed by passing a nasogastric tube through the nose in an attempt to reach the stomach. If EA is present, the tube will stop short as it will be unable to reach the stomach.

Plain chest radiographs (X-rays), without contrast, are used to diagnose congenital TEF. They will reveal a compressed or deviated (off-center) trachea. If aspiration pneumonia has occurred this may also be visualized. Additional testing is seldom needed to confirm the diagnosis. However, multidetector-row CT scans are sometimes used to aid in diagnosis or to help guide treatment since they produce a high-quality image.

Infants with congenital TEF may need other testing to check for associated birth defects such as cardiac anomalies. These should be identified before undergoing treatment for TEF/EA.

Acquired TEF is often diagnosed via endoscopy or bronchoscopy. These procedures involve the insertion of a small tube with a camera on the end through the nose or back of the throat into the esophagus or trachea. The camera allows your healthcare provider to visualize these structures and see a TEF or EA. You will be given medications during these procedures to make you more comfortable.

Treatment

Surgical repair is necessary in all cases of tracheoesophageal fistula. Prior to the development of surgical techniques, the condition was almost always fatal.

Survival rates in otherwise healthy infants who have congenital TEF are near 100% with surgery. However, survival rates and potential complications of surgery depend on many factors, including the type of TEF present. It is important that the procedure is done by an experienced surgeon at a hospital that can provide specialized care for patients with TEF/EA.

Since TEF can result in such serious health complications, it may be necessary to stabilize some patients before they can undergo surgery. The presence of heart defects, aspiration pneumonia, or other health problems associated with TEF may delay surgery. If surgery is delayed, often a G-tube (a tube that goes from the outside of the abdomen directly into the stomach) is placed so that proper nutrition can be provided.

Once their condition is stable, even very small infants only a few days old can undergo surgical repair for TEF/EA. This should be done in a hospital with a neonatal intensive care unit (NICU).

The Procedure

Different surgical methods may be used depending on the exact location of the TEF and whether or not EA is present. Sometimes the procedure is performed in stages (especially if EA is present). Often the incision is made on the side of the chest between the ribs through which the opening between the trachea and esophagus is closed.

If EA is also present this is repaired by stitching the upper and lower portions of the esophagus back together so that it becomes one continuous tube connecting the back of the throat and the stomach. Sometimes the upper and lower portions of the esophagus are too far apart to simply reconnect. In this case the trachea will be repaired in one stage of the surgery and the esophagus is usually repaired at a later time.

Sometimes a procedure to widen the esophagus, called esophageal dilation, is also necessary to help aid in swallowing. This procedure may need to be done several times.

Potential Complications of Surgery

Complications that may occur during the surgery itself or during the recovery period include adverse reactions to general anesthesia including malignant hyperthermia, breathing difficulty or allergic reactions, bleeding or infection. Your healthcare provider should discuss all of the potential risks with you prior to surgery so that you can make informed decisions regarding your care.

Following surgery, there is the possibility that the tracheoesophageal fistula will recur and have to be surgically repaired again. This is more likely to happen if you have to spend a lot of time on a ventilator after your surgery. Recurrence is also more likely in certain types of TEF due to the location of the fistula. If a recurrence of the TEF does happen you may have complications including breathing problems or aspiration pneumonia.

For patients with esophageal atresia, swallowing difficulties and gastroesophageal reflux disease (GERD) are common. The majority of people with EA have esophageal dysmotility due to dysfunction of the nerves of the esophagus. The severity of nerve damage to the esophagus is directly related to the severity of future complications.

As previously mentioned, swallowing difficulties can be addressed through dilation (widening) of the esophagus. while GERD is usually treated with medications called proton pump inhibitors. If GERD is difficult to control and persists for a long period of time other complications from this can occur such as Barrett's esophagus or esophageal cancer. These latter two complications usually occur only in severe cases of prolonged GERD.