Introduction

Benign oesophageal diseases form a small but significant part of upper GI surgeons’ workload. Most are managed by medical gastroenterologists except those likely to require surgery; then close collaboration is needed between medical and surgical specialists. Oesophageal cancer surgery is largely performed in specialised units.

Difficulty in swallowing, dysphagia, is the most common presenting symptom. Reflux oesophagitis and other peptic disorders of the lower oesophagus (often associated with hiatus hernia) and oesophageal carcinomas are the main conditions encountered. Achalasia and pharyngeal pouch are occasionally seen; oesophageal web (as in Plummer–Vinson syndrome) and leiomyomas (gastrointestinal stromal tumours, GIST) are extremely rare.

Oesophageal varices secondary to cirrhosis usually present as massive haematemesis and are usually managed with non-surgical therapy.

Pathology and clinical features

The oesophagus is lined by stratified squamous epithelium. Historically the majority of oesophageal malignancies were squamous carcinomas. The rest were adenocarcinomas in the lower third, probably derived from metaplastic intestinal mucosa, i.e. Barrett’s oesophageal changes. However, over the last few decades there has been a slow but steady reversal in these proportions; currently adenocarcinoma makes up 60–70% of new cases. Both forms tend to behave aggressively.

Tumours at the gastro-oesophageal junction originate from three areas: the distal oesophagus (‘type 1’), the gastric cardia (‘type 2’) or the subcardial gastric wall (‘type 3’). Oesophageal cancers may fungate into the lumen but more often infiltrate diffusely along and around the oesophageal wall. Once through the wall, the tumour invades adjoining mediastinal organs.

Difficulty in swallowing (dysphagia) is the classic symptom, but it tends to develop insidiously. Patients initially have trouble with solids but tend to compensate (liquidising their food, for example) before seeking medical advice. Later they have trouble swallowing liquids. By the time dysphagia manifests, the cancer is often incurable and lymphatic spread has already occurred to mediastinal nodes. Sometimes, involvement of other mediastinal organs, e.g. recurrent laryngeal nerve invasion or an oesophago-tracheal fistula, produces the first symptoms. Low oesophageal lesions tend to metastasise to upper abdominal nodes and the liver.

Epidemiology and aetiology

The incidence of oesophageal cancer in Western countries is relatively low compared with cancer of the colon or stomach. It accounts for about 5% of all deaths from cancer, with men at two-fold greater risk than women. The disease is usually advanced by the time of presentation, hence the mortality rate is appalling, with 70% dying within a year and only 8% surviving 5 years (see Fig. 22.1).

Oesophageal carcinoma is uncommon before the age of 50 years. At least 50% occur in the lower third and only about 15% in the upper third. Heavy alcohol intake is associated with at least 20 times greater risk and smokers have five times the risk of non-smokers; however, these risk factors classically predispose only to squamous cell carcinoma.

Since 1980, adenocarcinomas have increased by 70% relative to squamous carcinomas in many Western countries. This may be connected with the widespread use of acid-suppressing medication and possibly with dietary changes. There is no familial predisposition but people with structural and functional disorders, such as peptic oesophagitis and stricture, achalasia, oesophageal web or pharyngeal pouch, are at considerably greater risk. Areas of exceptionally high incidence have been reported in China, elsewhere in the Far East, and around the Caspian Sea. There is some evidence that a fungus which grows on food grain may be responsible. These epidemiological patterns suggest that chronic tissue irritation is an important aetiological factor. One common finding in dietary studies is an association with low fruit and vegetable intake.

Investigation of suspected oesophageal carcinoma

Dysphagia or pain on swallowing (odynophagia) in a middle-aged or elderly patient demands urgent investigation to exclude carcinoma (see Box 22.1). General physical examination is usually unrewarding except in advanced disease. In these cases, there may be signs of wasting, hepatomegaly due to metastases, a Virchow’s node in the left supraclavicular fossa or sometimes hoarseness from recurrent laryngeal nerve involvement. Gastroscopy allows direct inspection of the oesophagus using a flexible endoscope and biopsies are taken of any suspicious areas (Fig. 22.2).

Management of carcinoma of the oesophagus

The ideal treatment would be to eliminate the cancer. In practice, this can rarely be achieved because of overt or occult spread. Even if cure is impossible, oesophageal obstruction must be relieved to allow the patient to eat and to prevent the appalling consequences of complete obstruction, namely inability to swallow even saliva.

The choice of treatment depends on the patient’s fitness and the stage, but surgical resection of the tumour is only employed when the aim is cure. Co-morbidity such as chronic lung disease or cirrhosis (often from the adverse effects of alcohol and cigarettes) may influence the decision. Cardiac fitness is assessed clinically and by electrocardiography (ECG), echocardiography, and cardiopulmonary exercise testing (CPEX). In addition, spirometry and blood gases should be performed to assess fitness for thoracotomy. If the FEV₁ is less than 2 L, single lung ventilation used during thoracotomy is unlikely to be tolerated. Adjuvant therapy in addition to surgery has a role in some patients, although clinical trials are continuing to determine precise indications. Most often, chemotherapy is given alone or in combination with radiotherapy (chemoradiotherapy) before surgery (neoadjuvant therapy) in an attempt to shrink or downsize the tumour.

Historically, radiotherapy has been given as the sole form of treatment for squamous carcinoma. Intubation of the tumour was often needed before radiotherapy to prevent complete obstruction in the short term as a result of swelling. Results of this were often disappointing because of adverse local effects. Radiotherapy nowadays tends to be reserved for palliation.

For incurable patients with dysphagia, palliative procedures to restore swallowing, such as argon plasma tissue coagulation, laser treatment or stent insertion, can be effective and are preferable to major surgery, particularly if life expectancy is short.

Pathophysiology

The oesophagus is essentially a tube of smooth muscle conveying food to the stomach by peristalsis. At the lower end there is a tonically active sphincter mechanism. Its contraction coordinates with oesophageal peristalsis, relaxing to allow food to enter the stomach. The purpose of the sphincter mechanism is to prevent reflux of stomach contents into the oesophagus. After passing through the diaphragm, the oesophagus continues for about 2 cm within the abdomen before joining the stomach. The sphincter mechanism is not completely understood but it probably involves several components: a functional (but not anatomical) sphincter of the oesophageal wall immediately above the diaphragm and the smooth muscle at the gastric cardia. This mechanism is reinforced by diaphragmatic crural contraction, by the acute angle at which the oesophagus enters the stomach and by the ‘flutter valve’ effect of intra-abdominal pressure on the abdominal oesophagus causing luminal collapse.

Hiatus hernia occurs when the proximal part of the stomach passes through the diaphragmatic hiatus up into the chest (see Fig. 22.5). Around 90% of hiatus hernias are of the sliding type, in which the gastro-oesophageal junction is drawn up into the chest and a segment of stomach becomes constricted at the diaphragmatic hiatus. The hernia tends to slide up into the chest with each peristaltic contraction. These hernias may become huge and, rarely, may contain the whole stomach including pylorus and first part of the duodenum, sometimes with part of the colon as well. In the 10% of non-sliding cases, the gastro-oesophageal junction remains below the diaphragm and a bulge of stomach herniates through the hiatus beside the oesophagus. These are described as para-oesophageal or rolling hiatus hernias.

In sliding hiatus hernia, the lower oesophageal sphincter mechanism often becomes defective, causing reflux of acid–peptic stomach contents. This is not a problem with rolling hiatus hernias which more usually present with pain or dysphagia.

Hiatus hernia in adults is commonly associated with smoking and obesity. The pressure of intra-abdominal fat may be contributory. Hiatus hernia can also be a congenital abnormality presenting in early infancy.

Clinical features of reflux oesophagitis

Hiatus hernia is common, especially in women, and becomes more common with advancing years. Only a small proportion of patients with hiatus hernia experience symptoms of acid–peptic reflux, i.e. ‘heartburn’; moreover, reflux can occur without a hiatus hernia. Reflux causes acute inflammation (oesophagitis), experienced as burning retrosternal pain (heartburn), bitter-tasting regurgitation or other forms of ‘indigestion’. Symptoms are typically worse at night when the patient lies flat or on bending forward during the day.

If reflux is severe and persistent, mucosal destruction is recurrent and inflammation becomes chronic. Progressive scarring leads to fibrosis of the wall and this may lead to luminal narrowing (stricture) and dysphagia. Longstanding oesophageal reflux predisposes to Barrett’s oesophagus, with normal squamous oesophageal epithelium being replaced by metaplastic columnar mucosa. Barrett’s oesophagus is the only known predisposing factor for adenocarcinoma of the lower oesophagus. Histological examination of biopsies may reveal specialised intestinal metaplasia (SIM) or severe dysplasia; both are markers for malignant change, supporting the metaplasia/dysplasia/carcinoma model for evolution of lower oesophageal cancer.

Occasionally, oesophageal reflux symptoms are severe and acute, causing chest pain which can easily be mistaken for angina or even myocardial infarction. There is often an element of oesophageal spasm which, like angina, is relieved by glyceryl trinitrate and similar drugs, which may confuse the diagnosis.

In general, hiatus hernias are assessed at endoscopy, with biopsy if necessary. The latter is important to exclude carcinoma, especially in dysphagia. In specialised units, oesophageal manometry studies can assess the oesophageal muscular function and oesophageal pH studies assess the extent and severity of reflux. These studies help determine which patients are likely to benefit from surgery. Rarely barium swallow examination (see Figs 22.6 and 22.7) may be necessary to delineate complicated anatomy.

Management of hiatus hernia and reflux oesophagitis

Most patients can be managed conservatively, with surgery reserved for intractable cases. Treatment is aimed at reducing acid–pepsin activity and preventing reflux.

Pathophysiology and clinical presentation

Achalasia is an uncommon disorder of oesophageal motility. In pathological terms, there is a poorly understood neurological defect involving Auerbach’s myenteric (parasympathetic) plexus. Peristalsis is disrupted throughout the entire oesophagus, causing uncoordinated contractions and inadequate relaxation of the lower oesophageal sphincter.

The condition presents in two main age groups, young adults and the elderly. In the latter, the cause may be a central rather than a local neurological deficit. Achalasia, as with any structural oesophageal abnormality, predisposes to cancer with a 5% lifetime risk of developing squamous oesophageal carcinoma, usually 15–20 years after diagnosis of achalasia.

Clinically, the cardiac sphincter becomes constricted and the proximal oesophagus dilates with accumulated fluid and solids. Difficulty in swallowing is the usual presenting symptom, together with halitosis, weight loss, reflux of food into the back of the throat. Solids tend to sink to the lower end of the dilated oesophagus, whereas fluids spill over into the trachea causing spluttering dysphagia (see Ch. 18, p. 249) and coughing, particularly at night. Vomiting and retrosternal pain may occur in more severe cases.

Investigation of suspected achalasia

Chest X-ray may show the mediastinal shadow is widened by a dilated oesophagus; sometimes a fluid level in the oesophagus is visible behind the heart Fig. 22.7(b). At endoscopy the typical appearance is of a capacious distal oesophagus, usually with food and fluid residue, and a tight lower oesophageal sphincter that may or may not admit the tip of the gastroscope. It is important to see the oesophago-gastric junction to exclude an occult neoplasm masquerading as achalasia (pseudoachalasia). Barium swallow examination reveals gross dilatation of the oesophagus with a tapering constriction (often described as a ‘bird’s beak’ or ‘rat’s tail’) at the lower end. The constriction barely allows contrast to enter the stomach (see Fig. 22.8). Under fluoroscopic screening, uncoordinated purposeless peristaltic waves can often be seen; these are described as tertiary contractions, distinct from normal coordinated primary and secondary contractions. Oesophageal manometry is the cardinal test for achalasia, demonstrating excessive lower oesophageal sphincter pressure that fails to relax on swallowing, and abnormal peristalsis in patients with a more chronic history.

Management of achalasia

The condition is by its nature incurable, and treatment aims to relieve the distal obstruction. The standard operation is a laparoscopic abdominal procedure involving a longitudinal incision of the lower oesophageal and upper gastric muscle wall until the mucosa bulges through (Heller’s cardiomyotomy); this is best combined with a partial fundoplication to overcome the almost inevitable reflux it will cause. Balloon dilatation is sometimes used as an alternative but often needs to be repeated. Botulinum toxin (Botox) is now often used to relax the lower oesophageal sphincter and is an excellent temporising measure, but needs to be repeated after 3–6 months as the effect wears off. Patients with achalasia should be followed up and periodically endoscoped to exclude developing squamous carcinoma (see Fig. 22.9).

Pathophysiology

Gastro-oesophageal varices result from portal venous hypertension. The most common cause is cirrhosis of the liver, usually linked with alcohol abuse. Less common causes include portal vein thrombosis, hepatic vein thrombosis (Budd–Chiari syndrome) and schistosomiasis.

As resistance to flow and pressure rises in the portal venous system, abnormal communications develop between the peripheral portal system and the systemic venous circulation. This is known as portal-systemic shunting. Multiple large veins appear in the peritoneal cavity and retroperitoneal area, making any form of abdominal surgery hazardous. Large submucosal veins also appear at the lower end of the oesophagus and gastric fundus, and are known as gastro-oesophageal varices (see Fig. 22.11). These varices can cause massive gastrointestinal haemorrhage, possibly related to rises in intravariceal pressure. Up to 40% of cirrhotic patients suffer variceal haemorrhage at some stage.

Elective management

Gastro-oesophageal varices are not usually treated unless they have bled. Occasionally, elective treatment is carried out in cases where haemorrhage is considered highly likely, with the improving efficacy of banding and sclerotherapy. After recovery from an acute bleed, varices should be treated at planned intervals by banding or injection sclerotherapy until they are eliminated.

Management of bleeding gastro-oesophageal varices