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Once a patient complains of dysphagia they should have an "upper endoscopy" (EGD). Commonly patients are found to have esophagitis and may have an esophageal stricture. Biopsies are usually done to look for evidence of esophagitis even if the EGD is normal. Usually no further testing is required if the diagnosis is established on EGD. Repeat endoscopy may be needed for follow up.
If there is a suspicion of a proximal lesion such as:
- history of surgery for laryngeal or esophageal cancer
- history of radiation or irritating injury
- achalasia
- Zenker's diverticulum
a "barium swallow" may be performed before endoscopy to help identify abnormalities that might increase the risk of perforation at the time of endoscopy.
If achalasia suspected an upper endoscopy is required to exclude a malignancy as a cause of the findings on barium swallow. Manometry is performed next to confirm. A normal endoscopy should be followed by manometry, and if manometry is also normal, the diagnosis is functional dysphagia.
Surgical repair is performed. Reconstruction or ligation of aberrant right subclavian artery by sternotomy/by neck approach.
A Schatzki ring is usually diagnosed by esophagogastroduodenoscopy or barium swallow. Endoscopy usually shows a ring within the lumen of the esophagus which can be of variable size (see picture). The ring is usually located a few centimetres above the gastro-esophageal junction, where the esophagus joins the stomach. Schatzki rings can often resemble a related entity called an esophageal web. Esophageal webs also contain extra mucosal tissue, but do not completely encircle the esophagus.
Endoscopies and barium swallows done for other reasons often reveal unsuspected Schatzki rings, meaning that many Schatzki rings are asymptomatic.
Two varieties of Schatzki rings have been described. The original description by Schatzki and Gary was of a ring of fibrous tissue seen on autopsy; this is the less common type of Schatzki ring. More commonly, the ring consists of the same mucosal tissue that lines the entire esophagus. Although many hypotheses have been proffered, the cause of Schatzki rings remains uncertain; both congenital and acquired factors may be involved.
Biopsy, the removal of a tissue sample during endoscopy, is not typically necessary in achalasia but if performed shows hypertrophied musculature and absence of certain nerve cells of the myenteric plexus, a network of nerve fibers that controls esophageal peristalsis.
Because of its sensitivity, manometry (esophageal motility study) is considered the key test for establishing the diagnosis. A catheter (thin tube) is inserted through the nose, and the patient is instructed to swallow several times. The probe measures muscle contractions in different parts of the esophagus during the act of swallowing. Manometry reveals failure of the LES to relax with swallowing and lack of functional peristalsis in the smooth muscle esophagus.
Characteristic manometric findings are:
- Lower esophageal sphincter (LES) fails to relax upon wet swallow (<75% relaxation)
- Pressure of LES 100 is considered achalasia, > 200 is nutcracker achalasia.
- Aperistalsis in esophageal body
- Relative increase in intra-esophageal pressure as compared with intra-gastric pressure
The simple barium swallow will normally reveal the diverticulum. It may also be found with upper GI endoscopy, or CT with oral contrast.
The patient is generally sent for a GI, pulmonary, or ENT, depending on the suspected underlying cause. Consultations with a speech therapist and registered dietitian nutritionist (RDN) are also needed, as many patients may need dietary modifications such as thickened fluids.
About 6 to 14 percent of patients who receive a routine barium swallow test of the esophagus are found to have a Schatzki ring.
The diagnosis of nutcracker esophagus is typically made with an esophageal motility study, which shows characteristic features of the disorder. Esophageal motility studies involve pressure measurements of the esophagus after a patient takes a wet (fluid-containing) or dry (solid-containing) swallow. Measurements are usually taken at various points in the esophagus.
Nutcracker esophagus is characterized by a number of criteria described in the literature. The most commonly used criteria are the Castell criteria, named after American gastroenterologist D.O. Castell. The Castell criteria include one major criterion: a mean peristaltic amplitude in the distal esophagus of more than 180 mm Hg. The minor criterion is the presence of repetitive contractions (meaning two or more) that are greater than six seconds in duration. Castell also noted that the lower esophageal sphincter relaxes normally in nutcracker esophagus, but has an elevated pressure of greater than 40 mm Hg at baseline.
Three other criteria for definition of the nutcracker esophagus have been defined. The Gothenburg criterion consists of the presence of peristaltic contractions, with an amplitude of 180 mm Hg at any place in the esophagus. The Richter criterion involves the presence of peristaltic contractions with an amplitude of greater than 180 mmHg from an average of measurements taken 3 and 8 cm above the lower esophageal sphincter. It has been incorporated into a number of clinical guidelines for the evaluation of dysphagia. The Achem criteria are more stringent, and are an extension of the study of 93 patients used by Richter and Castell in the development of their criteria, and require amplitudes of greater than 199 mm Hg at 3 cm above the lower esophageal sphincter (LES), greater than 172 mm Hg at 8 cm above the LES, or greater than 102 mm Hg at 13 cm above the LES.
Pathology specimens of the esophagus in patients with nutcracker esophagus show no significant abnormality, unlike patients with achalasia, where destruction of the Auerbach's plexus is seen. The pathophysiology of nutcracker esophagus may be related to abnormalities in neurotransmitters or other mediators in the distal esophagus. Abnormalities in nitric oxide levels, which have been seen in achalasia, are postulated as the primary abnormality. As GERD is associated with nutcracker esophagus, the alterations in nitric oxide and other released chemicals may be in response to reflux.
Barium esophagography and videofluoroscopy will help to detect esophageal webs. Esophagogastroduodenoscopy will enable visual confirmation of esophageal webs.
Dysphagia lusoria (or Bayford-Autenrieth dysphagia) is abnormal condition characterized by difficulty in swallowing caused by aberrant right subclavian artery. It was discovered by David Bayford in 1761 and first reported in a paper by the same in 1787.
Several radiographic findings are suggestive of DES, such as a "rosary bead esophagus" or "corkscrew" appearance on barium swallow x-ray, although these findings are not unique to DES.
If small and asymptomatic, no treatment is necessary. Larger, symptomatic cases of Zenker's diverticulum have been traditionally treated by neck surgery to resect the diverticulum and incise the cricopharyngeus muscle. However, in recent times non-surgical endoscopic techniques have gained more importance (as they allow for much faster recovery), and the currently preferred treatment is endoscopic stapling (i.e. diverticulotomy with staples ). This may be performed through a diverticuloscope. Other methods include fibreoptic diverticular repair.
Other non-surgical treatment modalities also exist, such as endoscopic laser, which recent evidence suggests is less effective than stapling.
Esophageal webs and rings can be treated with endoscopic dilation.
complete blood cell (CBC) counts, peripheral blood smears, and iron studies (e.g., serum iron, total iron-binding capacity [TIBC], ferritin, saturation percentage) to confirm iron deficiency, with or without hypochromic microcytic anemia.
Ressurance to the patient when no cause can be found.
In case of a cause treat the cause.
Several drugs are used to treat DES, including nitroglycerin, hyoscine butylbromide, calcium channel blockers, hydralazine, and anti-anxiety medications. Acid suppression therapy, such as proton pump inhibitors, are often the first line therapy. Botulinum toxin, which inhibits acetylcholine release from nerve endings, injected above the lower esophageal sphincter may also be used in the treatment of DES. Small studies have suggested benefit from endoscopic balloon dilation in certain patients, but all of the above have a low percentage of success in treating the condition; whilst the treatments work in some sufferers, it does not work for everyone. In extremely rare cases, surgery may be considered.
Since lateral medullary syndrome is often caused by a stroke, diagnosis is time dependent. Diagnosis is usually done by assessing vestibular-related symptoms in order to determine where in the medulla that the infarction has occurred. Head Impulsive Nystagmus Test of Skew (HINTS) examination of oculomotor function is often performed, along with computed tomography (CT) or magnetic resonance imaging (MRI) to assist in stroke detection. Standard stroke assessment must be done to rule out a concussion or other head trauma.
The "lump in the throat" sensation that characterizes globus pharyngis is often caused by inflammation of one or more parts of the throat, such as the larynx or hypopharynx, due to cricopharyngeal spasm, gastroesophageal reflux (GERD), laryngopharyngeal reflux or esophageal versatility.
In some cases the cause is unknown and symptoms may be attributed to a cause "i.e." a somatoform or anxiety disorder. It has been recognised as a symptom of depression, which responds to anti-depressive treatment.
Differential diagnosis must be made from Eagle syndrome which uses the patient's description of "something caught in my throat" as a diagnostic tool. Eagle syndrome is an elongation of the styloid process causing irritation to nerves and muscles in the region resulting in a number of unusual symptoms.
The results of recent studies have strongly suggested that GERD is a major cause of globus, though this remains under considerable debate.
A less common cause, distinguished by a "lump in the throat" accompanied with clicking sensation and considerable pain when swallowing, may be due to thyroid-cartilage rubbing against anomalous asymmetrical laryngeal anatomy "e.g." the superior cornu abrading against the thyroid lamina, surgically trimming the offending thyroid-cartilage provides immediate relief in all cases. However this cause is frequently misdiagnosed, despite requiring a simple clinical examination involving careful palpation of the neck side to side which elicits the same click sensation (laryngeal crepitus) and pain as when swallowing, most cases are due to prior trauma to the neck. High resolution computed tomographic (CT) or MRI scan of the larynx is usually required to fully understand the anomalous laryngeal anatomy. Anterior displacement of the thyroid ala on the affected side while swallowing can help resolve symptoms.
It is surgically corrected, with resection of any fistula and anastomosis of any discontinuous segments.
Infants with vascular rings typically present before 12 months with respiratory or esophageal symptoms like stridor, wheezing, cough, dysphagia, or difficulty feeding. The stridor improves with neck extension, differentiating from laryngomalacia which is relieved by prone or upright positioning, and will not be relieved with corticosteroids or epinephrine, unlike croup. Diagnosis requires a high degree of clinical suspicion and can be confirmed with barium contrast esophagogram for those with esophageal symptoms, bronchoscopy, or CT or MRI.
Macroglossia is usually diagnosed clinically. Sleep endoscopy and imaging may be used for assessment of obstructive sleep apnea. The initial evaluation of all patients with macroglossia may involve abdominal ultrasound and molecular studies for Beckwith–Wiedemann syndrome.
Fistulae between the trachea and esophagus in the newborn can be of diverse morphology and anatomical location; however, various pediatric surgical publications have attempted a classification system based on the below specified types.
Not all types include both esophageal agenesis and tracheoesophageal fistula, but the most common types do.
The letter codes are usually associated with the system used by Gross, while number codes are usually associated with Vogt.
An additional type, "blind upper segment only" has been described, but this type is not usually included in most classifications.
They are mainly observed in the Plummer–Vinson syndrome, which is associated with chronic iron deficiency anemia. One in 10 patients with Plummer-Vinson syndrome will eventually develop squamous cell carcinoma of the esophagus, but it is unclear if esophageal webs in and of themselves are a risk factor.
Esophageal webs are associated with bullous diseases (such as epidermolysis bullosa, pemphigus, and bullous pemphigoid), with graft versus host disease involving the esophagus, and with celiac disease.
Esophageal webs are more common in white individuals and in women (with a ratio 2:1). The literature describes relations between these webs and Plummer-Vinson Syndrome, bullous dermatologic disorders, inlet patch, graft-versus-host disease and celiac disease. The postulated mechanisms are sideropenic anemia (mechanism unknown) or some interference of the immune system.
Esophageal webs can be ruptured during upper endoscopy.