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General Classification and Clinical Terms

The following symptoms can be distinguished in patients with swallowing problems: 

• Oropharyngeal (“transfer”) dysphagia: failure to initiate swallowing and/or propel the bolus from the pharynx to the esophagus, often combined with choking, cough, and aspiration or nasal regurgitation (most common in the presence of underlying neurological or muscular disease). 

• Esophageal (“transport”) dysphagia: failure to transport the bolus through the esophagus to the stomach, often combined with retching, regurgitation, and aspiration; esophageal dysphagia is an alarm symptom that requires immediate investigation. 

• Odynophagia: pain on the passage of a bolus through the esophagus (most common in the presence of esophageal ulceration or trauma).

These symptoms are to be distinguished from: 

• “Sore throat”: pain on swallowing with or without the presence of a bolus (most common in the presence of pharyngitis or tonsillitis). 
• Globus sensation (globus “hystericus”): foreign body sensation (“ball”) in the back of the throat that is neither related to swallowing, nor combined with dysphagia or odynophagia.

Investigation of Esophageal Dysphagia

The principle causes of esophageal dysphagia are detailed in the image below. For patients presenting with esophageal dysphagia the clinical history provides essential information that allows the various forms of swallowing difficulties to be classified and the likely causes to be identified. The cardinal questions required for the following classification are detailed in image below.

Patients with severely disturbed bolus transport and stasis frequently experience regurgitation and aspiration at night (e. g., Zenker diverticulum, achalasia). Chronic cough and recurrent chest infection often accompany these symptoms. These problems may be the presenting complaint and can be more troublesome than the esophageal symptoms.

Approach and Differential Diagnosis of Dysphagia

Structural Lesions as a Cause of Dysphagia

Esophageal Tumors

Esophageal Carcinoma

Many cases of esophageal carcinoma are recognized on the basis of a typical clinical presentation (rapidly progressive dysphagia, initially for solid food and then for fluids; anorexia, weight loss, and anemia). Squamous cell carcinoma tends to occur in heavy smokers and drinkers, whereas adenocarcinoma is most common in elderly men (60 years) with a long history of gastroesophageal reflux disease.

On endoscopy, squamous cell carcinoma is found in the proximal esophagus, whereas adenocarcinoma occurs in the distal esophagus. Tumors in the gastric cardia (gastric adenocarcinoma) may present in a similar fashion to esophageal carcinoma if direct extension of the tumor involves the gastroesophageal junction.

Every presentation of dysphagia is suspicious of cancer and should be investigated by endoscopy.

Endoscopy is the most important investigation. Biopsies obtained at endoscopy establish the diagnosis by histology. Radiologic investigations are insensitive, especially at early stages of the disease. At later stages, further symptoms may be caused by local invasion of neighboring organs:

• Hoarseness and aphonia (recurrent laryngeal nerve)
• Horner syndrome (sympathetic chain, cervical ganglion)
• Dyspnea (tracheal compression, esophago−tracheal fistula, metastases).

Leiomyoma

Esophageal leiomyoma also presents with swallowing difficulties. In contrast to esophageal carcinoma, these rare tumors progress slowly and general health is usually preserved. Endoscopy reveals a smooth swelling in the esophagus, often without a break in the mucosa, consistent with the presence of a submucosal lesion.

Mediastinal Conditions

Mediastinal processes such as malignant disease (e. g., lung cancer) and anomalous blood vessels (e. g., aortic aneurysm, arteria lusoria) are rare causes of dysphagia. Dysphagia caused by thyroid goiter is suggestive of malignancy or massive retrosternal extension.

Inflammatory Stenosis

Peptic Stenosis

The most common form of inflammatory stenosis is a complication of gastroesophageal reflux disease (GERD). Dysphagia caused by peptic stricture is most common in elderly men and is usually preceded by a long (many years) history of heartburn, acid regurgitation, and other reflux-related symptoms. The stenosis develops as a consequence of chronic scarring in patients with severe inflammation, often associated with a large, sliding hiatus hernia.

This cause of dysphagia is uncommon because only 30−40% of GERD patients have esophagitis (the majority suffer from nonerosive reflux disease [NERD]), and only those with untreated, severe ulcerative disease are likely to develop a peptic stricture at the gastroesophageal junction.

Barrett Esophagus

Columnar cell metaplasia in the lower esophagus (Barrett esophagus) is a complication of GERD. It used to be believed that these changes represented a progression from reflux esophagitis after many years of acid damage. However, recent observations suggest that Barrett esophagus can develop within a short period of time (1 year) and may represent a distinct phenotypic response to acid exposure in the lower esophagus.

Barrett esophagus is a premalignant condition with an incidence rate of 1−3% per year for the development of dysplasia and 0.5% per year for adenocarcinoma. Ulceration and stenosis within Barrett esophagus often indicates the presence of dysplasia or carcinoma. Regular surveillance endoscopy and biopsy is recommended at two to three year intervals and more frequently in the presence of ulceration, stenosis, or histologically confirmed dysplasia.

Rare Causes

Other rare causes of inflammatory stenosis are:

• Trauma (e. g., chemical injury, especially strong alkali), impacted tablets (e. g., nonsteroidal antiinflammatory medications (NSAIDs), radiotherapy).
• Postsurgical (e. g., gastroesophageal anastomosis, acid damage following Heller myotomy for achalasia without prophylactic antireflux procedure).
• Dermatological disease with esophageal involvement (e. g., pemphigus vulgaris, epidermiolysis bullosa hereditaria).
• Scleroderma with esophageal involvement (aperistalsis, weak lower esophageal sphincter) with severe GERD and secondary peptic stenosis.

Diagnostic Tests. Endoscopy and radiological investigation are required to identify the position, severity, and probable cause of inflammatory stenosis.

Esophageal Membranes and Rings

• Esophageal rings are circular stenosis found in the lower esophagus comprising either mucosal tissue (e. g., Schatzki ring) or muscular tissue.

• Esophageal membranes (webs) are semicircular, eccentric mucosal lesions found in the upper esophagus (e. g., Plummer− Vinson syndrome).

• Esophageal rings cause intermittent dysphagia for solid food, whereas patients with esophageal membranes are usually asymptomatic.

The etiology of these lesions is not always clear, but may be congenital (muscular rings) or develop in the presence of GERD (Schatzki ring) or iron-deficiency anemia (Plummer−Vinson syndrome).

Diverticulum

Zenker diverticulum is an “out-pouching” of mucosa above the cricopharyngeal muscle at a point of relative weakness in the posterior muscle wall of the hypopharynx. Small diverticulae of this type tend to cause dysphagia, whereas larger diverticulae cause regurgitation of food, occasionally complicated by aspiration. Gurgling in the throat on swallowing and halitosis may be present.

In contrast to pulsion diverticulae (e. g., Zenker), traction diverticulae are found in the mid to lower esophagus and rarely cause symptoms. Traction diverticulae are most commonly observed in patients with esophageal dysmotility, increased contraction pressure, and a thickened esophageal muscle wall. Both forms of diverticulae are recognized by characteristic appearance on radiological investigation.

Esophageal Motility Disorders as a Cause of Dysphagia

Achalasia

Achalasia is a rare disease (incidence 1:100000) that usually occurs in the third to sixth decade, affecting men and women equally. The dysphagia caused by achalasia is due to failure of the lower esophageal sphincter to relax upon swallowing (i. e., functional obstruction). In general, this leads to aperistalsis and dilation of the tubular esophagus (megaesophagus), although uncoordinated contractions are observed in a minority of patients (vigorous achalasia).

Pathophysiology. The precise etiology is unknown. However, the primary lesion appears to be an inflammatory degeneration of the inhibitory neurons that mediate lower esophageal sphincter relaxation, with secondary changes in the esophageal muscle wall. Chagas disease is a related condition that occurs in Latin America caused by Trypanosoma cruzi, in which complete destruction of the intramural ganglion cells leads to failure of lower esophageal sphincter relaxation and megaesophagus.

Clinical Features and Diagnosis. In both conditions, dysphagia for solid food and liquids is the main presenting symptom, together with regurgitation of undigested food and weight loss. Retrosternal pain is not unusual and may be described as “heartburn.” The diagnosis is suggested by the presenting symptoms, typical radiological findings, and endoscopy (to exclude structural lesions). The diagnosis is established by manometry. Classical findings include raised lower esophageal sphincter pressure, failure of lower esophageal sphincter relaxation on swallowing, and aperistalsis.

The diagnosis must be confirmed by manometry, because endoscopy may be normal with unimpeded passage into the stomach and radiology is frequently nonspecific.

Medical treatment of achalasia is usually unsatisfactory. Relief of symptoms is achieved by weakening the lower esophageal sphincter by pneumatic dilation, intrasphincteric injection of Clostridium/botulinum toxin, or Heller myotomy.

Diffuse Esophageal Dysmotility

Dysphagia for solid food and liquids can be caused by “diffuse esophageal spasm” (DES). Hypertensive, peristaltic esophageal contractions (“nutcracker” esophagus) and hypertensive lower esophageal sphincter pressure rarely cause dysphagia, but are associated with atypical chest pain.

This “noncardiac chest pain” can be severe and occur between meals (also at night). It is important to differentiate these symptoms from angina pectoris (e. g., lack of association with exercise, normal electrocardiogram). Although, esophageal and coronary artery spasm can occur in the same patients. Esophageal spasm and pain can be triggered by various stimuli (acid reflux, hot or cold food, stress).

The diagnosis of esophageal dysmotility is established by manometry. In DES a simultaneous, segmental rise in distal esophageal pressure occurs on swallowing, whereas in “nutcracker” esophagus peristalsis is preserved but contraction pressures in the distal esophagus are greatly elevated (180 mmHg).

Typical radiological findings of DES are multiple, nonprogressive, tertiary (“corkscrew”) contractions with “pseudodiverticulae” between the rings of contraction. However these appearances may be intermittent and of short duration and are not sensitive for diagnosis. Radiological findings of “nutcracker” esophagus are generally normal.

Mucosal Disease (Odynophagia)

Esophageal Ulceration

The sudden onset of odynophagia is suggestive of esophageal ulceration caused by caustic material or medication (“drug-induced ulcer,” commonly tetracycline, NSAIDs, anticholinergics, iron and potassium preparations).

The ingestion of tablets before bed or without adequate fluid can lead to prolonged contact of irritating medicinal compounds with the esophagus and local damage to the mucosa. The diagnosis is confirmed by endoscopy. Healing is facilitated by acid suppression and is usually successful within a week.

Esophageal Trauma. Odynophagia can be caused by mucosal damage following the ingestion of foreign objects (e. g., fish bones). Short-lasting odynophagia is common after endoscopic procedures, especially sclerotherapy of varices.

Esophagitis

Gastroesophageal reflux disease is by far the most common cause of esophagitis. However, odynophagia is uncommon, except in the most severe cases. Dysphagia is often reported by patients with GERD, either as a consequence of primary esophageal dysmotility or more commonly, secondary to the effects of acid exposure on the esophagus. Acid suppression often improves these symptoms.

In contrast, infectious causes of esophageal ulceration often cause odynophagia with or without dysphagia. Common agents include Candida, herpes viruses, and Cytomegalovirus (most common in immunosuppressed patients, e. g., HIV infection). Esophagitis with or without “sore throat” (indicating pharyngeal involvement) can also be caused by radiotherapy and chemotherapy.

References

• American Gastroenterological Association. Medical position statement on management of oropharyngeal dysphagia. Gastroenterology. 1999; 116:452−54.
• Kahrilas PJ. Gastroesophageal reflux disease. JAMA. 1996;276: 983−8.
• Katz PO, Castell JA. Nonachalasia Motility Disorders. In: Castell DO, Richter JE, eds. The Esophagus. 3rd ed. New York: Lippincott, Williams & Willkins; 1999:215−234.
• Richter JE. Dysphagia, odynophagia, heartburn, and other esophageal symptoms. In: Feldmann M., Friedmann LS, Sleisenger, MH, eds. Sleisenger and Fordtran’s Gastrointestinal and Liver Disease. Pathophysiology/Diagnosis/Management. 7th ed. Philadelphia: Saunders; 2002; 1:93−101.
• Schwizer W, Borovicka J, Fried M, Inauen W. Motilitätsstörungen und Untersuchungsmethoden des Oesophagus. Schweiz MedWochenschr. 1993; 123:8−14.
• Spechler, SJ. Barrett’s esophagus. Semin Gastrointest Dis. 1996; 7: 51−60.