Gastroenterology - Diseases of the oesophagus

Question 1

What are the symptoms of oesophageal disease?

Answer 1

Dysphagia
Dyspepsia
Regurgitation
Painful swallowing (odynophagia)

Question 2

How is dysphagia best investigated?

Answer 2

Dysphagia (difficulty swallowing) has mechanical and neuromuscular causes. A short history of progressive dysphagia initially for solids and THEN liquids suggests a mechanical (oesophageal) stricture. Investigation is with OGD particularly to look for a malignant oesophageal stricture.

Barium swallow is more appropriate as the first line investigation when the history (slow onset of dysphagia for both solids and liquids) suggests a motility disorder such as achalasia. Oesophageal manometry may subsequently be necessary.

Question 3

What does odynophagia suggest?

Answer 3

Odynophagia is painful swallowing particularly with alcohol and hot liquids. It suggests oesophageal inflammation (oesophagitis) due to GORD, infections of the oesophagus (herpes virus, candida) or drugs such as slow release potassium or bisphosphonates.

Question 4

What is a tracheo-oesophageal fistula?

Answer 4

This is the most common congenital abnormality of the oesophagus. They are a number of forms, features of the most common one include:

• proximal oesophagus ends blindly
• distal oesophagus arises from the trachea

Risk factors include advanced maternal age, smoking and obesity. The pathogenesis is unknown.

Question 5

What are the clinical features of TE fistula?

Answer 5

Maternal polyhydramnios (excess amniotic fluid)
- swallow amniotic fluid cannot be absorbed in the small intestine 

Abdominal distension in the newborn
- air in the stomach from the tracheal fistula

Frothing and bubbling around the mouth at birth
Difficulty with feeding
- food is regurgitated out of the mouth
- new born can develop aspiration pneumonia

Question 6

What is VATER syndrome?

Answer 6

TE can be associated with other congenital defects that collectively are known as VATER syndrome. These include:

• Vertebral abnormalities
• Anorectal (usuall anal atresia)
• TE fistula
• Renal disease and absent radius

Question 7

What are the two types of oesophageal diverticulum?

Answer 7

1) True diverticula = outpouching lined by mucosa, submucosa, muscularis propria and adventitia

2) False or pulsion diverticula = weakness in the underlying muscle wall, outpouching of mucosa and submucosa into areas of weakness
- e.g. Zenker

Question 8

What is a Zenker diverticulum?

Answer 8

This is a false, or pulsion type diverticula located in the upper oesophagus. It occurs due to an area of weakness in the cricopharyngeus muscle.

Clinical findings are painful swallow, halitosis, regurgitated food through the mouth, and possible diverticulitis. Treatment is surgery.

Question 9

What is a hiatus hernia?

Answer 9

Part of the stomach herniates through the oesophageal hiatus in the diaphragm. There are 2 types, sliding and para-oesophageal (rolling).

Question 10

What are the features of a sliding hiatus hernia?

Answer 10

Sliding accounts for more than 95% of cases. The gastro-oesophageal junction slides through the hiatus and lies above the diaphragm. A sliding hiatus hernia does not cause any symptoms unless there is associated reflux. In which case heartburn and nocturnal epigastric distress from acid reflux are the most common.

Treatment is initially with lifestyle modifications by reducing intake of foods that can lower oesophageal sphincter tone (e.g. chocolate, caffeine, calcium channel blockers), avoid eating large quantities and sleep with the head elevated.

Medical therapy is with H2RAs, PPIs and prokinetic agents (to increase gastric emptying)

Question 11

What are the features of a paraoesophageal hernia?

Answer 11

These account for less than 1% of hernias. The gastrooesphageal junction remains at the level of the diaphragm, but part of the stomach bulges into the thoracic cavity. These pose a serious risk of complications including gastric volvulus (rotation and strangulation of the stomach), bleeding and respiratory complications. They should be treated surgically.

Question 12

What is a Bochdalek hernia?

Answer 12

A pleuroperitoneal diaphragmatic hernia accounts for 90% of hernias seen in newborns. The visceral contents extend through the posterolateral part of the diaphragm on the left into the chest cavity causing severe respiratory distress at birth. Loops of bowel are present in the left pleural cavity on radiography.

Question 13

What is GORD?

Answer 13

Reflux of gastric contents into the oesophagus is a normal event. Clinical symptoms only occur when there is prolonged contact of gastric contents with the oesophageal mucosa.

Question 14

What is the pathophysiology of GORD?

Answer 14

The lower oesophageal sphincter (LOS) tone is reduced and inappropriate relaxation frequently occurs. There is increased mucosal sensitivity to gastric acid and reduced oesophageal clearance of acid. Delayed gastric emptying and prolonged post-prandial and nocturnal reflux also contribute. Mechanical or functional aberrations associated with a hiatus hernia may contribute to GORD, but reflux disease can occur in the absence of a hiatus hernia. Other predisposing factors in GORD include obesity, pregnancy, systemic sclerosis and certain drugs (e.g. nitrates, tricyclics).

Question 15

What are the clinical symptoms of GORD?

Answer 15

Heartburn is the major symptom. There may also be regurgitation precipitated by bending straining or lying down and odynophagia. “Waterbash” reflex salivation on acid reflux is often absent. Cough and nocturnal asthma can occur from aspiration of gastric contents into the lungs. Symptoms do not correlate well with the severity of oesophagitis. Weight gain is common. Pain can mimic angina due to oesophageal spasm.

Question 16

Do all patients with GORD require investigation?

Answer 16

The diagnosis is clinical and most patients are treated without investigation. OGD is indicated in patients wth new onset heart burn who are over 55 years of age with alarm symptoms (e.g. dysphagia, weight loss, haematemesis, aneamia) suspicious of upper GI malignancy. It is also performed to document complications of reflex and in patients who do not respond to treatment.

OGD may show oesophagitis (mucosal erythema, erosions and ulceration) a hiatus hernia or Barrett’s oesophagus. The oesophageal mucosa can be normal in patients with reflux.

24 hour intraluminal pH monitoring or impedance is usually reserved for confirmation of GORD prior to surgery or where there is inadequate response to PPIs.

Question 17

How is GORD managed?

Answer 17

Conservative measures with lifestyle changes (weight loss, avoidance of excess alcohol, and aggravating foods, cessation of smoking) and simple antacids are sufficient for mild symptoms in the absence of oesophagitis. Patients with severe symptoms or with proven pathology (oesophagitis or complications) require PPIs.

NICE recommend that GORD which has not yet been investigated endoscopically be treated as per dyspepsia guidelines.

Endoscopically proven oesophagitis:

• full dose PPI for 1-2 months
• if response then low treatment dose as required
• if no response then double PPI dose for 1 month

Endoscopically negative reflux disease:

• full dose PPI for 1 month
• if response then offer low dose treatment, possibly on an as-required basis, with a limited number of repeat prescriptions
• if no response then H2RA or prokinetic for one month

Question 18

When is surgery required for GORD?

Answer 18

Surgery may be necessary for the few patients who continue to have symptoms in spite of full medical therapy, or in young people whose symptoms return rapidly on stopping treatment. Via a laparoscopic approach the fundus of the stomach is sutured around the lower oesopha- gus to produce an antireflux valve (Nissen fundoplication, ‘lap wrap’). Specific complications of this procedure are dysphagia and bloating.

Question 19

What are the complications of GORD?

Answer 19

Oesophagitis
Barrett's oesophagus 
Iron deficiency anaemia 
Benign Oesophageal stricture 
Gastric volvulus

Question 20

What is Barrett’s oesophagus? What is the risk of developing cancer from it?

Answer 20

This is a pre-malignant condition in which the squamous lining of the lower oesophagus is replaced by columnar mucosa with areas of meta- plasia. It occurs in response to chronic reflux and is seen in 10% of endoscopies for reflux. Epidemiology suggests a true prevalence of between 1.5% and 5% of the population, as it is often asymptomatic or first discovered when the patient develops oesophageal cancer. The absolute risk of cancer is low, however, and >95% of patients with CLO (columnar lined oesophagus) die of other causes. Prevalence is increasing, particularly in white men aged >50. Other risk factors include obesity and smoking but not alcohol. Duodenogastro-oesophageal reflux, con- taining bile, pancreatic enzymes and pepsin in addition to acid, may be important.

Question 21

How are patients with Barrett’s investigated?

Answer 21

Neither acid suppression nor anti-reflux surgery stops progression of CLO, and treatment is only indicated for symptoms of reflux or complications such as stricture. Endoscopic ablation or photodynamic therapy can induce regression but islands of glandular mucosa remain and cancer risk is not eliminated. Regular endoscopic surveillance is controversial; it can detect dysplasia and early malignancy but, because most CLO is undetected until cancer develops, will not reduce overall oesophageal cancer mortality. Those known to have CLO are recommended to have surveillance endoscopy 2–3-yearly, more often if dysplasia is present.

Definite high-grade dysplasia (confirmed by two pathologists) on follow-up endoscopic surveillance is a significant risk for an incident cancer and the management options include oesophagectomy (for a young healthy patient), endoscopic mucosal resection (for a localized area of high-grade dysplasia) or endoscopic ablative therapies (photodynamic therapy, radiofrequency ablation) to ablate the dysplastic tissue.

Question 22

Why do patients with GORD develop iron deficiency anaemia?

Answer 22

This occurs as a consequence of chronic blood loss from oesophagitis. Many such patients have bleeding from erosions in a hiatus hernia. Nevertheless, hiatus hernia is very common and other causes of blood loss, particularly colorectal cancer, must be considered, even when endoscopy reveals oesophagitis and a hiatus hernia.

Question 23

How does oesophageal stricture present?

Answer 23

Gradually worsening dysphagia. It is treated with endoscopic dilatation and long term PPI therapy. Chronic GORD may also underlie the development of a Schatzki ring (localised mucosal stricture at the gastro-oesophageal junction) which also presents with dysphagia.

Question 24

What is a gastric volvulus?

Answer 24

Occasionally a massive intrathoracic hiatus hernia twists upon itself (gastric volvulus), causing complete obstruction, severe chest pain, vomiting and dysphagia. The diagnosis is made by CXR and barium swallow. Most resolve spontaneously but then recur and so elective preventive surgery is usually advised.

Question 25

What are the causes of infective oesophagitis?

Answer 25

Infective oesophagitis is usually a complication of AIDS.
Pathogens include HSV, CMV and Candida. All present with painful swallowing (odynophagia).

HSV - multinucleated squamous cells with intranuclear inclusions
CMV - eosinophilic intranuclear inclusions
Candida - yeast and pseudohyphae

Question 26

What agents cause corrosive oesphagitis?

Answer 26

Ingestion of strong alkali or acid substances usually cause corrosive oesophagitis. Complications include stricture formation, perforation and SCC. Early treatment is conservative (analgesia and nutritional support); vomiting and endoscopy are avoided to prevent perforation. Later, endoscopic dilatation of strictures is usually necessary.

Question 27

What are oesophageal varices?

Answer 27

These are dilated submucosal left gastric veins.
Pathogenesis is usually secondary to portal hypertension from cirrhosis. Alcohol abuse is the most common cause.
Clinically they present with rupture and massive haematemesis. They are the most common cause of death in cirrhosis.

Question 28

What is Mallory-Weiss syndrome?

Answer 28

This is a mucosal tear in the proximal stomach and distal oesophagus. It is caused by severe wretching most often due to alcoholism or bulimia. It causes haematemesis with a history of vomiting preceding the bleed. Most resolve spontaneously although heavy bleeds may require endoscopic haemostasis.

Question 29

What is achalasia?

Answer 29

This is a condition of unknown aetiology. Oesopheageal aperistalsis and failure of relaxation of the LOS impair oesophageal emptying.

Question 30

What is the pathology of achalasia?

Answer 30

Normal relaxation of smooth muscle in the LOS is due to nitric oxide release and vasoactive intestinal peptide (VIP). In achalasia there is incomplete relaxation of the LOS. This is possibly due to:

• loss of myenteric nerve fibres and inhibitory neurones in the myenteric plexus producing nitric oxide synthase
• decrease in both VIP and NO
• vagus nerve degeneration

The result is dilation of the oesophagus proximal to the LOS but NO peristalsis.
Chagas disease is an acquired cause, due to destruction of ganglion cells by amastigotes.

Question 31

What are the clinical features of achalasia?

Answer 31

It occurs in all ages but is rare in childhood.
There is usually a long history of dysphagia for both liquids and solids, which may be associated with regurgitation. Retrosternal chest pain may occur and be misdiagnosed as cardiac pain. As dysphagia progresses, nocturnal aspiration pneumonia can occur.

Question 32

How is achalasia investigated?

Answer 32

1) Barium swallow is the initial investigation and shows a dilated oesophagus with a gradually tapering lower end (beak deformity). There is absence of peristalsis and sometimes asynchronous, purposeless contractions of the oesophageal body
2) Oesoaphageal manometry confirms the diagnosis. It demonstrates raised LOS pressures and failure to relax on swallowing
3) OGD is necessary to exclude oesophageal cancer, which can produce similar symptoms and X ray appearance (“pseudoachalasia”)
4) CXR is not necessary for diagnosis. It may show a dilated oesophagus with a fluid level behind the heart. The fundal gas shadow is absent

Question 33

How is achalasia managed?

Answer 33

There is no cure. Goals of treatment are relief of symptoms and improved oesophageal emptying. Endoscopic balloon dilatation (2% risk of oesophageal perforation) or surgical division of the LOS (Hellers cardiomyotomy) are the most effective treatments.

Medical treatment to relax the LOS (oral nitrates or nifedipine, endoscopic injection of botulinum into the LOS) is used for elderly or frail patients. However, they have limited efficacy. GORD is a complication of ALL treatments especially surgery. There is a slight increase in SCC of the oesophagus in both treated and untreated patients.

Question 34

How does systemic sclerosis affect the oesophagus?

Answer 34

There is oesophageal involvement in most patients with systemic sclerosis. The smooth muscle layer is replaced by fibrous tissue and LOS pressure is reduced (cf. achalasia) thereby permitting gastro-oesophageal reflux. Symptoms are the result of reflux (leading to oesophagitis and strictures) and oesophageal hypomotility. Treatment is as for reflux and stricture formation.

Question 35

What other types of oesophageal dysmotility disorders can be seen on manometry?

Answer 35

Three types are recognised:

1) diffuse oesophageal spasm (simultaneous contractions in the distal oesophagus)
2) nutcracker oesophagus (high amplitude peristaltic waves)
3) hypertensive lower oesophageal sphincter (raised resting pressure)

They present with dysphagia and chest pain and abnormalities may be seen on barium swallow (“cork screw appearance” in diffuse oesophageal spasm) and manometry. Nitrates and CCBs, e.g. oral nifedipine, sometimes help symptoms. treatment of GORD may help.

Question 36

What causes oesophageal perforation?

Answer 36

1) Iatrogenic - occurs after endoscopic dilatation of oesophageal strictures (usually malignant) or achalasia, or rarely after passage of nasogastric tube
2) Traumatic or spontaneous oesophageal rupture - occurs after blunt chest trauma or forceful vomiting (Boerhaave’s syndrome). There is severe chest pain, fever, hypotension and surgical emphysema (crepitation)

Question 37

How is perforation confirmed?

Answer 37

CXR may be normal or show air in the mediastinum (pneumomediastinum - air disects the anterior mediastinum) and neck and a pleural effusion. There is a crunching sign on auscultation (Hamman sign). Diagnosis is made with CT scan or water soluble contrast swallow.

Management should be in a surgical unit. Treatment is with IV antibiotics, nil by mouth, and IV fluids. Surgical repair may be needed immediately or for patients who fail to settle with conservative management.

Question 38

What is the most common benign oesophageal tumour?

Answer 38

Leiomyoma

Question 39

What are the most common malignant tumours of the oesophagus?

Answer 39

Squamous cell carcinoma - usually upper and middle third

Adenocarcinoma - usually lower third

Question 40

What is the aetiology of squamous cell carcinoma of the oesophagus?

Answer 40

It is most common in ages 60-70.
Major risk factors are smoking and excess alcohol consumption. Other risk factors are important in specific regions with a high incidence (high intake of pickled food and hot beverages). Pre existing oesophageal disease (i.e. achalasia and caustic strictures) and coeliac disease also increases the risk.

Metastasis is first to the local lymph nodes then to the liver and lungs.

Question 41

What are the risk factors for adenocarcinoma carcinoma?

Answer 41

Arises from Barrett’s metaplasia.
Smoking and obesity are also risk factors.
Most common form in the Western world.

Question 42

What are the clinical features of oesophageal carcinoma?

Answer 42

There is progressive painless dysphagia (initially to solids then to liquids as well) and weight loss. Bolus food impaction or local infiltration may cause chest pain. Physical signs are usually absent.

Question 43

What investigations should be performed for suspected cases of oesophageal cancer?

Answer 43

Diagnosis is by OGD and tumour biopsy. A barium swallow will show the strictured area but biopsy specimens cannot be taken.

Subsequent investigations are to stage the tumour (TNM system). Staging is initially by CT scan of the chest and abdomen to look for distant metastases. Patients without evidence of metastatic disease and who are potentially curable, then undergo EUS to locally stage the tumour (depth of wall invasion and lymph node involvement), PET scanning (more sensitive than CT to detect distant metastases) and sometimes laparoscopy to detect occult peritoneal disease.

Question 44

How is oesophageal carcinoma treated?

Answer 44

Surgical resection provides the best chance of cure and is performed when the tumour has not infiltrated outside of the oesophageal wall. It is combined with pre-operative chemotherapy with or without radiotherapy (neo-adjuvant treatment). However, over half of patients present with incurable locally advanced or metastatic disease. In these cases, systemic chemotherapy may temporarily improve symptoms in patients although treatments may be necessary to improve dysphagia. These include endoscopic insertion of an expanding stent across the tumour or laser and alcohol injections to cause tumour necrosis.

For those patients with non metastatic but locally unresectable disease, combined radiotherapy and chemotherapy may limit disease progression and increase survival.

Prognosis is poor 10% 5 year survival.