Esophageal Disorders

1.

A 42-year-old man presents to clinic complaining of frequent regurgitation of undigested food, coughing whenever he tries to swallow, and halitosis. His wife has started to complain about his bad breath, and he wants to know what is wrong. He reports brushing his teeth three to four times daily, with no improvement in the smell of his breath.

Which of the following is the best step to take next in the evaluation of this patient?

Barium swallow

Esophagogastroduodenoscopy (EGD)

CT scan of the neck

Modified barium swallow

Key Concept/Objective: To understand the diagnosis of Zenker diverticulum
An esophageal diverticulum is a sac that protrudes from the esophageal wall. As in the rest of the gastrointestinal tract, a true diverticulum is one that contains all layers of the wall. A false diverticulum contains mucosa and submucosa that have herniated through the muscular wall. Esophageal diverticula are classified into four categories on the basis of anatomy: Zenker diverticula; midesophageal diverticula; epiphrenic diverticula; and intramural pseudodiverticulosis. Zenker diverticulum is often referred to as an esophageal diverticulum. However, its location is proximal to the esophagus, above the upper esophageal sphincter (UES), and should be considered a hypopharyngeal diverticulum. Zenker diverticula are believed to form as a result of an area of weaknessâ??the Killian triangleâ??that exists between the cricopharyngeal sphincter and the inferior pharyngeal constrictor muscle. The primary abnormality that leads to the development of the diverticula is incomplete relaxation of the UES. An association between Zenker diverticula and reflux has been suggested but not confirmed. Typical symptoms include oropharyngeal dysphagia, regurgitation of undigested food, halitosis, cough, and aspiration pneumonia. Barium swallow is an excellent test for the diagnosis of Zenker diverticulum. Many small diverticula are asymptomatic, but symptomatic patients with large diverticula should be offered treatment. The classic treatment is an open surgical resection of the diverticulum with division of the cricopharyngeus muscles. Another option for extremely large diverticula is diverticulopexy, or suspension of the diverticulum in a cranial direction.

Explanation

Key Concept/Objective: To understand the diagnosis of Zenker diverticulum
An esophageal diverticulum is a sac that protrudes from the esophageal wall. As in the rest of the gastrointestinal tract, a true diverticulum is one that contains all layers of the wall. A false diverticulum contains mucosa and submucosa that have herniated through the muscular wall. Esophageal diverticula are classified into four categories on the basis of anatomy: Zenker diverticula; midesophageal diverticula; epiphrenic diverticula; and intramural pseudodiverticulosis. Zenker diverticulum is often referred to as an esophageal diverticulum. However, its location is proximal to the esophagus, above the upper esophageal sphincter (UES), and should be considered a hypopharyngeal diverticulum. Zenker diverticula are believed to form as a result of an area of weaknessâ??the Killian triangleâ??that exists between the cricopharyngeal sphincter and the inferior pharyngeal constrictor muscle. The primary abnormality that leads to the development of the diverticula is incomplete relaxation of the UES. An association between Zenker diverticula and reflux has been suggested but not confirmed. Typical symptoms include oropharyngeal dysphagia, regurgitation of undigested food, halitosis, cough, and aspiration pneumonia. Barium swallow is an excellent test for the diagnosis of Zenker diverticulum. Many small diverticula are asymptomatic, but symptomatic patients with large diverticula should be offered treatment. The classic treatment is an open surgical resection of the diverticulum with division of the cricopharyngeus muscles. Another option for extremely large diverticula is diverticulopexy, or suspension of the diverticulum in a cranial direction.

2.

Three weeks ago, you diagnosed a 66-year-old male patient as having dysphagia of new onset. Today, the patient returns to clinic for a follow-up visit to receive the results of diagnostic testing. The results of a barium esophagogram are consistent with achalasia, and esophageal manometry reveals aperistalsis. The patient describes his symptoms as being moderate; he can tolerate food as long as he eats very slowly and does not lie down for at least 3 hours after meals. He rarely experiences symptoms when drinking liquids. He has lost 6 lb over the past 3 months.

Which of the following is the most appropriate step to take next in the management of this patient?

Trial of long-acting nitrates

Refer for surgical myomectomy

Upper endoscopy

Repeat manometry in 4 weeks, employing a promotility agent

Key Concept/Objective: To understand the need to rule out pseudoachalasia in patients with suspected achalasia
All patients suspected of having achalasia should undergo upper endoscopy to exclude pseudoachalasia arising from a tumor at the gastroesophageal junction. Signs and symptoms of pseudoachalasia may mimic those of classic achalasia, both clinically and manometrically. The diagnosis of pseudoachalasia should be suspected in patients of older age, those with a short duration of symptoms, and those with more significant weight loss. In patients with achalasia, at endoscopy, the esophageal body often appears dilated and tortuous. Retained secretions and food debris may be encountered. The region of the lower esophageal sphincter usually appears puckered and remains closed with air insufflation; however, with gentle pressure, the endoscope will transverse this area. The gastroesophageal junction and gastric cardia need to be examined closely for the presence of tumors to rule out pseudoachalasia.

Explanation

Key Concept/Objective: To understand the need to rule out pseudoachalasia in patients with suspected achalasia
All patients suspected of having achalasia should undergo upper endoscopy to exclude pseudoachalasia arising from a tumor at the gastroesophageal junction. Signs and symptoms of pseudoachalasia may mimic those of classic achalasia, both clinically and manometrically. The diagnosis of pseudoachalasia should be suspected in patients of older age, those with a short duration of symptoms, and those with more significant weight loss. In patients with achalasia, at endoscopy, the esophageal body often appears dilated and tortuous. Retained secretions and food debris may be encountered. The region of the lower esophageal sphincter usually appears puckered and remains closed with air insufflation; however, with gentle pressure, the endoscope will transverse this area. The gastroesophageal junction and gastric cardia need to be examined closely for the presence of tumors to rule out pseudoachalasia.

3.

A 32-year-old woman with dysphagia for solid food presents to clinic for a follow-up visit. Upper endoscopy revealed multiple esophageal rings and eosinophilia but no strictures. The patient continues to complain of heartburn and food "sticking." You recommend dilation with bougienage, a proton pump inhibitor (PPI), and corticosteroids as initial therapy.

Which of the following family histories is most consistent with the diagnosis of eosinophilic esophagitis (EOE) in this patient?

Mother with esophageal adenocarcinoma

Father with gastric cancer

Sister with gastroesophageal reflux disease (GERD)

Multiple first-degree relatives with atopic disease

Key Concept/Objective: To understand the presentation of EOE
EOE has become an increasingly recognized cause of dysphagia and food impaction in young adults. Endoscopy reveals findings of multiple esophageal rings. The etiology is unclear, but GERD, a congenital abnormality, and, possibly, allergic conditions have been implicated. EOE is characterized by esophageal eosinophilia of greater severity than found in acid reflux disease. The eosinophil density required for the diagnosis of EOE is greater than 15 eosinophils per high-power field in the mucosa; in addition, for a diagnosis to be made, the eosinophils must not clear after appropriate treatment with a PPI. EOE is often associated with other atopic diseases. Patients may have a strong family history of atopy. Although current studies have not established that GERD is a causal factor in EOE, there is clearly a role for acid suppression in those patients complaining of GERD symptoms. Treatment consists of dilation with bougienage with or without acid suppression. In many cases, more than one treatment session is needed to achieve a desired esophageal lumen of 15 mm. These patients are at higher risk for painful, deep mucosal tears. Pharmacologic treatment of EOE has been shown to result in improvement of clinical symptoms and histology in the majority of patients. Therapeutic options include pharmacologic treatments, such as oral and topical corticosteroids, and leukotriene-receptor antagonists. Dietary modification and elimination have been effective in the pediatric population, suggesting that certain foods may serve as environmental triggers for the eosinophilic infiltration. Because many adults present with strictures, endoscopic esophageal dilation is another management modality. Despite these treatment options, several controversies exist in the recommended treatment strategy. Because little is known concerning the natural history of the condition, it is unclear whether the goal of therapy should be resolution of symptoms, resolution of tissue eosinophilia, or both.

Explanation

Key Concept/Objective: To understand the presentation of EOE
EOE has become an increasingly recognized cause of dysphagia and food impaction in young adults. Endoscopy reveals findings of multiple esophageal rings. The etiology is unclear, but GERD, a congenital abnormality, and, possibly, allergic conditions have been implicated. EOE is characterized by esophageal eosinophilia of greater severity than found in acid reflux disease. The eosinophil density required for the diagnosis of EOE is greater than 15 eosinophils per high-power field in the mucosa; in addition, for a diagnosis to be made, the eosinophils must not clear after appropriate treatment with a PPI. EOE is often associated with other atopic diseases. Patients may have a strong family history of atopy. Although current studies have not established that GERD is a causal factor in EOE, there is clearly a role for acid suppression in those patients complaining of GERD symptoms. Treatment consists of dilation with bougienage with or without acid suppression. In many cases, more than one treatment session is needed to achieve a desired esophageal lumen of 15 mm. These patients are at higher risk for painful, deep mucosal tears. Pharmacologic treatment of EOE has been shown to result in improvement of clinical symptoms and histology in the majority of patients. Therapeutic options include pharmacologic treatments, such as oral and topical corticosteroids, and leukotriene-receptor antagonists. Dietary modification and elimination have been effective in the pediatric population, suggesting that certain foods may serve as environmental triggers for the eosinophilic infiltration. Because many adults present with strictures, endoscopic esophageal dilation is another management modality. Despite these treatment options, several controversies exist in the recommended treatment strategy. Because little is known concerning the natural history of the condition, it is unclear whether the goal of therapy should be resolution of symptoms, resolution of tissue eosinophilia, or both.

4.

A 47-year-old man presents to your office complaining that for the past 6 months, food "feels like it gets stuck in my chest." The patient points to his midsternum as he describes the symptoms. He denies having trouble swallowing liquids, and he denies having odynophagia. His symptoms are sporadic and have not gotten worse recently. His weight is stable. On examination, the patient appears healthy. Results of laboratory studies are unremarkable.

On the basis of medical history, which of the following is the most likely cause of this patient's dysphagia?

Achalasia

Esophageal ring

Esophageal malignancy

Neuromuscular dysfunction

Key Concept/Objective: To understand the major causes of dysphagia
Dysphagia refers to the sensation of food being delayed in its normal passage from mouth to stomach. Patients often complain of a sensation of food "sticking." Anatomically, dysphagia may be classified as being of two kinds: oropharyngeal and esophageal. Oropharyngeal dysphagia is difficulty in initiating a swallow. Esophageal dysphagia results from difficulty transporting food down the esophagus secondary to structural or neuromuscular defects in the smooth muscle portion of the esophagus. Further history can often establish the diagnosis of esophageal dysphagia. Patients with dysphagia that primarily involves solid food typically have a structural lesion, such as a peptic stricture, ring, or malignancy. Esophageal rings tend to cause intermittent dysphagia of solid food, whereas strictures and cancer cause progressive dysphagia. Patients with both solid and liquid dysphagia are more likely to have a motility disorder like achalasia or scleroderma. The site that a patient indicates as being the location of dysphagia is of limited value. Although dysphagia in the retrosternal or epigastric areas frequently corresponds to the site of obstruction, dysphagia localized to the neck may be from obstruction either lower in the esophagus or in the hypopharyngeal area. Oropharyngeal or transfer dysphagia is an abnormality related to the movement of a food bolus from the hypopharynx to the esophagus. Patients with oropharyngeal dysphagia typically have difficulty initiating a swallow; on attempting to swallow, they immediately experience coughing, choking, gagging, or nasal regurgitation. The distinction between oropharyngeal and esophageal dysphagia is crucial, because the conditions have distinctly different causes. Oropharyngeal dysphagia is most commonly caused by disruptions in the finely coordinated act of swallowing secondary to neuromuscular dysfunction. In this setting, the symptoms may be more severe when swallowing liquids.

Explanation

Key Concept/Objective: To understand the major causes of dysphagia
Dysphagia refers to the sensation of food being delayed in its normal passage from mouth to stomach. Patients often complain of a sensation of food "sticking." Anatomically, dysphagia may be classified as being of two kinds: oropharyngeal and esophageal. Oropharyngeal dysphagia is difficulty in initiating a swallow. Esophageal dysphagia results from difficulty transporting food down the esophagus secondary to structural or neuromuscular defects in the smooth muscle portion of the esophagus. Further history can often establish the diagnosis of esophageal dysphagia. Patients with dysphagia that primarily involves solid food typically have a structural lesion, such as a peptic stricture, ring, or malignancy. Esophageal rings tend to cause intermittent dysphagia of solid food, whereas strictures and cancer cause progressive dysphagia. Patients with both solid and liquid dysphagia are more likely to have a motility disorder like achalasia or scleroderma. The site that a patient indicates as being the location of dysphagia is of limited value. Although dysphagia in the retrosternal or epigastric areas frequently corresponds to the site of obstruction, dysphagia localized to the neck may be from obstruction either lower in the esophagus or in the hypopharyngeal area. Oropharyngeal or transfer dysphagia is an abnormality related to the movement of a food bolus from the hypopharynx to the esophagus. Patients with oropharyngeal dysphagia typically have difficulty initiating a swallow; on attempting to swallow, they immediately experience coughing, choking, gagging, or nasal regurgitation. The distinction between oropharyngeal and esophageal dysphagia is crucial, because the conditions have distinctly different causes. Oropharyngeal dysphagia is most commonly caused by disruptions in the finely coordinated act of swallowing secondary to neuromuscular dysfunction. In this setting, the symptoms may be more severe when swallowing liquids.

5.

A 37-year-old woman presents to clinic for further evaluation of chronic cough. She is an otherwise healthy nonsmoker. Her only medication is a PPI, which you prescribed empirically 1 month ago. Her symptoms have not resolved despite trials of inhaled steroids, an antihistamine, bronchodilators, and her current PPI. She denies experiencing any weight loss, dysphagia, or chest pain. On examination, the patient appears well-nourished. Her sinuses are nontender, and the oropharynx is clear. The pulmonary examination is normal. A chest x-ray is within normal limits. You suspect that her symptoms are related to GERD.

Which of the following treatments is recommended for this patient?

Continue the PPI

Stop the PPI and recommend dietary modification

Prescribe cisapride as a promotility agent

EGD within 1 month

Key Concept/Objective: To understand the treatment of GERD-related cough
Chronic cough is defined as cough that persists for a period longer than 3 months. GERD is the third most common cause of chronic cough; the two most common causes of chronic cough are postnasal drip and asthma. The pathophysiology of GERD-related cough includes both irritation of the upper respiratory tract (with or without aspiration) and stimulation of an esophageal-bronchial cough reflex. Patients with chronic cough resulting from GERD have normal chest radiographs, are nonsmokers, are not on medications known to cause cough (such as angiotensin-converting enzyme [ACE] inhibitors), and have had no response to treatment of asthma and postnasal drip. Between 43% and 75% of patients with GERD-related cough do not have typical reflux symptoms. The best initial evaluation is a trial of PPIs; the trial should continue for a period of 3 months, because GERD-related cough can take that long to resolve. Although dietary modification would seem to be a reasonable treatment of GERD, there are little data available to support it as a sole therapy. Cisapride is a prokinetic serotonin-receptor agonist that has demonstrated efficacy in treating mild GERD, but it was withdrawn from the market after causing lethal cardiac arrhythmias in some patients. This patient has no alarm signs, so EGD would be premature at this point.

Explanation

Key Concept/Objective: To understand the treatment of GERD-related cough
Chronic cough is defined as cough that persists for a period longer than 3 months. GERD is the third most common cause of chronic cough; the two most common causes of chronic cough are postnasal drip and asthma. The pathophysiology of GERD-related cough includes both irritation of the upper respiratory tract (with or without aspiration) and stimulation of an esophageal-bronchial cough reflex. Patients with chronic cough resulting from GERD have normal chest radiographs, are nonsmokers, are not on medications known to cause cough (such as angiotensin-converting enzyme [ACE] inhibitors), and have had no response to treatment of asthma and postnasal drip. Between 43% and 75% of patients with GERD-related cough do not have typical reflux symptoms. The best initial evaluation is a trial of PPIs; the trial should continue for a period of 3 months, because GERD-related cough can take that long to resolve. Although dietary modification would seem to be a reasonable treatment of GERD, there are little data available to support it as a sole therapy. Cisapride is a prokinetic serotonin-receptor agonist that has demonstrated efficacy in treating mild GERD, but it was withdrawn from the market after causing lethal cardiac arrhythmias in some patients. This patient has no alarm signs, so EGD would be premature at this point.