Tracheoesophageal fistula

Introduction: Congenital tracheoesophageal fistula (TEF) in adults is a rare disease. We describe a case of 68-year-old male with congenital TEF who had long standing symptoms mimicking nocturnal asthma. Patient underwent surgical repair of TEF with complete resolution of his symptoms.

Case Presentation: A 68-year-old male presented with "refractory asthma." The patient was diagnosed with asthma in 1980 at the age of 49 years. At that time, he presented with intermittent nocturnal wheezing and cough. The work-up included normal spirometry, chest radiograph and allergen skin test. He has been treated with inhaled bronchodilators and intermittent short courses of oral prednisone with partial relief of his symptoms. He was also treated for pneumonia in 1990. In January 1998, the patient presented with worsening nocturnal wheezing and cough. He noted these symptoms were more pronounced on lying down particularly after meals. Patient was symptom free during the daytime. On further questioning, he admitted having choking and gagging during meals. There was also history of intermittent heartburn and epigastric discomfort. He denied dyspnea, exertional wheezing, chest pain, hemoptysis, dysphagia, fever or weight loss. He denied allergies, environmental or occupational exposures. The patient is nonsmoker and a retired postal worker. Past medical history was significant for multiple colonic polypectomies, and transurethral resection of prostate for benign prostatic hypertrophy. Medications included, albuterol inhaler two puffs four times daily, fluticasone (220 ug) inhaler two puffs twice daily, terbutaline 2 mg tablets twice daily, long acting theophylline 800 mg once daily, prednisone 30 mg once daily, and ranitidine 150 mg twice daily. The examination showed healthy appearing middle aged male with normal vital signs, who weighed 165 lb, and was 69 cm tall. Chest and lung were normal. The cardiovascular, abdominal and neurological examination was unrevealing. Routine laboratory data was normal. Chest radiograph was also normal. To evaluate gastrointestinal symptoms, barium swallow was ordered. Barium swallow showed, at the level of thoracic inlet, a passage of small amount of barium from esophagus into the trachea, immediately followed by a coughing and choking spell. The esophagoscopy, subsequently, revealed a redundant mucosal flap approximately 18 cm from the incisors. On side-viewing endoscopy, a fistulous tract was identified surrounded by a redundant flap of normal appearing mucosa. Finally, the diagnosis of TEF was confirmed on bronchoscopy. Retrospectively, the patient recalled having postprandial cough and choking spells all his life, particularly on drinking liquids. He also noted worsening of the symptoms and wheezing on lying down immediately after meals. Given prolonged symptoms, absence of tracheoesophageal malignancy, local infection and history of local radiation, a diagnosis of adult recognized congenital tracheoesophageal fistula was made.

Discussion: Congenital TEF results from a persistent communication between trachea and esophagus due to incomplete fusion of the tracheoesophageal septum. Congenital TEFs affect 0.03% to 0.04% of newborns and are commonly associated with esophageal atresia. Up to 50% of infants with TEF and esophageal atresia have other associated congenital anomalies. This is in contrast to 27% of those with TEF and without esophageal atresia. Since majority of infants have associated esophageal atresia, the diagnosis of TEF is generally straightforward because of the presence of characteristic signs and symptoms. Congenital TEF without esophageal atresia are much more rare. Congenital H-type TEF, however rarely encountered beyond infancy, is compatible with prolonged life. It comprises about 4.2% of all congenital TEF. Congenital TEF in adult is a rare entity. Negus described the first ease of congenital TEF in adult in 1929. Since then less than 20 eases of adult congenital TEF are reported in the literature. Presenting symptoms include chronic cough, typically postprandial or nocturnal, wheezing, and recurrent or chronic respiratory infections. The frequency and severity of symptoms vary depending on the size and angle of the fistulous tract, the pressure gradient between the airway and the esophagus, and the type of the food ingested. Solid food is better tolerated than liquids. A paroxysm of coughing on swallowing liquids, Ohno's sign, is characteristic of TEF. The angle of the fistulous tract increases with age due to the difference in the growth rate of trachea and esophagus. The final configuration is more like an "N" than "H." The obliquity of the fistulous tract along with the commonly identified redundant mucosal flap overlying the orifice of the fistula thus protecting aspiration may also explain the difference in frequency and severity of symptoms in some patients. The diagnosis of TEF in adults is rather difficult. The chest radiograph in these patients can be normal or may show infiltrate, fibrosis, or bronchiectasis of lower lobes. Air esophagogram on routine chest radiograph in an adult is highly suggestive of TEF. Contrast esophagography using water soluble contrast agent (gastrografin) or dilute barium, demonstrating fistulous communication, is the most useful diagnostic investigation. When performed in prone or anterior-oblique position, contrast esophagography can be diagnostic in more than 75% of patients with underlying TEF. The diagnosis of congenital TEF is confirmed in the presence of otherwise normal trachea and esophagus on endoscopy. Treatment of congenital TEF is surgical. Since 70% of these fistulas are at or cephalad to T2, cervical approach is recommended. In patients, who are otherwise unsuitable for surgery, local ablation or cauterization of the fistula using silver nitrate could be attempted. Endoscopic ablation was attempted in our patient without success. Our patient, finally, underwent successful surgical repair of the fistula with complete resolution of his symptoms. Retrospectively, the symptoms in our case were due to TEF rather than asthma. Since patients with TEF also have associated esophageal motor abnormality, gastroesophageal reflux triggering wheezing and cough could not be excluded in this patient.

Conclusion: TEF should be suspected in all patients with chronic cough, especially postprandial, or chronic or recurrent pulmonary infections. The diagnostic procedure, contrast esophagography, if negative,may need to be repeated, when high index of suspicion persists. Finally, the adage "all that wheezes is not asthma" applies in our case.

Akmal Sarwar, MD and J. F. Beamis, MD--Lahey Clinic, Burlington, MA

COPYRIGHT 1999 American College of Chest Physicians
COPYRIGHT 2000 Gale Group