107 Disorders of the Esophagus
The esophagus is a muscular tube connecting the pharynx and the stomach. Its role is to move material from the mouth to the stomach. It does not produce any digestive enzymes and has no active role in digestion. Disorders of the esophagus can present with chest or abdominal pain, difficulty swallowing, abnormal movement of gastric contents, or gastrointestinal (GI) bleeding. Disorders involving the esophagus include developmental anomalies, motility disorders, gastroesophageal reflux (GER), esophagitis, and traumatic injury.
Developmental Anomalies
Congenital disorders of the esophagus occur in approximately 1 in 3000 to 5000 births. These disorders commonly occur during embryogenesis as the trachea separates from the esophagus, and include atresia with or without tracheoesophageal fistula (TEF), esophageal stenosis, esophageal duplication, esophageal webs and rings, esophageal diverticulum, and esophageal or bronchogenic cysts.
Etiology and Pathogenesis
The esophagus forms from a small ventral diverticulum of the embryonic foregut. This diverticulum separates into the esophagus and trachea around the fourth gestational week of fetal development. Anomalies can occur with abnormalities in any step in esophageal formation and development. One of the most common anomalies is TEF with or without atresia. This occurs when there is a disruption in the elongation and separation of the trachea from the esophagus. There are five types of TEF. The most common is type C in which there is atresia of the proximal esophagus with a fistula from the trachea to the distal esophagus (Figure 107-1). Other categories of TEF, in descending frequency, include isolated esophageal atresia without TEF, isolated TEF, esophageal atresia with proximal TEF, and esophageal atresia with proximal and distal TEF.
Congenital disorders of the esophagus are often associated with polyhydramnios as a result of the infant’s inability to swallow and absorb amniotic fluid and with prematurity. As many as 70% of children with esophageal abnormalities may have other congenital anomalies, including imperforate anus, vertebral anomalies, duodenal atresia, and annular pancreas. The VACTERL association is a combination of defects that are commonly found together: vertebral anomalies, anorectal atresia, cardiac anomalies, tracheoesophageal fistula, esophageal atresia, renal anomalies, and limb anomalies.
Clinical Presentation
A neonate with an esophageal congenital anomaly may present with episodes of respiratory distress worsened by feeding, regurgitation, a history of multiple episodes of pneumonia, or failure to thrive. Older children may present with dysphagia, regurgitation, halitosis, or respiratory symptoms. The severity of symptoms depends on the degree of esophageal compression or obstruction.
Evaluation and Management
Esophageal atresia or complete esophageal obstruction can be diagnosed by an inability to pass an orogastric or nasogastric tube into the stomach. TEF may be suggested on abdominal or chest radiograph; however, an isolated TEF (H-type) is best detected by esophagography with contrast. Barium swallow or endoscopy can be useful in diagnosing stenosis or incomplete obstruction from a web, ring, cyst, or diverticulum. Surgical correction is required to treat most congenital anomalies.
Motility Disorders of The Esophagus
The esophagus relies on a coordinated motility effort to drive food forward into the stomach and to clear acidic and bilious secretions that may leak upward from the stomach. If a motility disorder disturbs this muscular endeavor, proper delivery of food and clearance of gastroesophageal fluids cannot occur.
Etiology and Pathogenesis
Striated muscle makes up the upper esophageal sphincter along with the proximal one-third of the esophagus. Smooth muscle composes the remaining two-thirds. The lower esophageal sphincter (LES) is a physiologic sphincter. There is a rich nerve supply to the esophagus. Motility problems can arise from muscular disorders (polymyositis, dermatomyositis, muscular dystrophy, myasthenia gravis), neurologic disorders (stroke, multiple sclerosis, lead poisoning), systemic illness (lupus, scleroderma, sarcoidosis, thyroid disease, diabetes), or infection (tetanus, botulism, Trypanosoma cruzi infection).
Achalasia
Achalasia is a progressive motor disorder of the esophagus resulting in increased lower esophageal pressure, impaired relaxation of the LES during swallowing, and impaired esophageal peristalsis. This produces a functional obstruction at the esophagogastric junction. It is an uncommon disorder in the pediatric population. In the United States, childhood-onset achalasia is most often idiopathic, but systemic disease should be considered in determining the etiology. Histologic changes seen with achalasia include loss of ganglion cells, a decrease in the number of myenteric plexus nerve fibers, and degeneration of the vagus nerve.
Spastic Motility Disorders
Spastic esophageal disorders occur from diffuse esophageal spasm (contraction of more than one esophageal site at the same time), nutcracker esophagus (esophageal contractions of amplitude >180 mm Hg and duration >6 sec), or a hypertensive LES (lower esophageal pressure >44 mm Hg).
Clinical Presentation
Achalasia
Symptoms of achalasia include food and liquid dysphagia, regurgitation, vomiting, choking and coughing episodes, a sense of “food getting stuck,” a gurgling noise coming from the chest, postprandial and nocturnal chest pain, recurrent episodes of pneumonia, and loss of weight. Leiomyoma of the distal esophagus, anorexia nervosa, rumination syndromes, Chagas’ disease, and candidal esophagitis are other diseases with similar symptoms that need to be considered in the differential diagnosis. Allgrove’s syndrome is an autosomal recessive disorder that includes achalasia, alacrima, and adrenocorticotropic hormone insensitivity.
Spastic Motility Disorders
Spastic motility disorders present with dysphagia and substernal chest pain. Unlike cardiac chest pain, pain associated with esophageal dysfunction is nonexertional, occurs at night, is affected by ingestion of food, and responds to antacids. Loss of weight is not usually seen with these disorders.
Evaluation
Achalasia
Chest radiograph may show widening of the mediastinum, loss of the gastric air bubble, or an esophageal air-fluid level. Barium swallow will show impaired contrast movement, abnormal peristalsis, and tapering of the distal esophagus known as the “bird’s beak” sign (Figure 107-2). Endoscopy should always be performed and often shows esophageal dilatation, erythema, and ulceration from stasis. Esophageal manometry assesses LES pressures and function in addition to esophageal contraction and motor pattern. In achalasia, manometry shows increased lower esophageal pressure, abnormal peristalsis, and elevated intraesophageal pressures.
Management
Achalasia
Treatment of patients with achalasia includes pneumatic dilatation, surgical myotomy, botulinum toxin injection to inhibit acetylcholine release at the neuromuscular junction, and drug therapy (smooth muscle relaxants such as nitrates and calcium channel blockers). A long-term complication of achalasia may be the development of squamous cell carcinoma.
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