Oesophageal Symptoms and Motility Disorders

MOUTH, OESOPHAGUS AND STOMACH

Oesophageal Symptoms and Motility Disorders R C Heading M Tebaldi

6 Pyostomatitis vegetans affecting the lower lip.

Clinical diagnosis of oesophageal disease largely depends on an accurate history; physical examination is generally unrewarding. Symptoms of disordered transit (dysphagia, regurgitation) with pain typify oesophageal disease. Pain or chest discomfort (including retrosternal burning) alone is not specific to oesophageal disease; it may occur in various conditions ranging from angina pectoris to disease of the chest wall, pulmonary disease and intra-abdominal pathology. The symptoms of disordered transit are more specific to oesophageal disease and are encountered in oesophageal motor disorders and in patients with structural abnormalities such as inflammatory and neoplastic diseases.

• Rendu–Osler–Weber disease produces mucocutaneous telangiectasiae that are prone to spontaneous haemorrhage. • Cowden’s syndrome is characterized by circumoral and submucosal soft tissue nodules (tricholemmomas) and may be associated with breast or thyroid tumours. • Peutz–Jeghers syndrome is characterized by mucocutaneous freckling and intestinal polyposis. REFERENCES Kirtschig G, Murrell D, Wojnarowska F, Khumalo N. Interventions for Mucous Membrane Pemphigoid/Cicatricial Pemphigoid and Epidermolysis Bullosa Acquisita. Arch Dermatol 2002; 138: 380–4. Kirtschig G, Wojnarowska F. Auto-immune Blistering Disease: An Update of Diagnostic Methods and Investigations. Clin Exp Dermatol 1994; 19: 97–112. Sakane T, Takeno M. Novel Approaches to Behçet’s Disease. Expert Opin Investig Drugs 2000; 9(9): 1993–2005. Scully C, Beyli M, Feirrero M C et al. Update on Oral Lichen Planus: Aetiopathogenesis and Management. Crit Rev Oral Biol Med 1998; 9(1): 86–122. FURTHER READING Clin Dermatol 2000; 18(5). (This issue is dedicated to contemporary issues in oral medicine.) Scully C. The Mouth in Dermatological Disorders. Practitioner 2001; 245: 942–52. Scully C. The Oral Cavity. In: Champion R H, Burton J L, Burns A D, Breathnach S M, eds. Textbook of Dermatology. Vol. 4. 6th ed. Oxford: Blackwell Science, 1998: 3047–123. (A comprehensive chapter on oral disorders by a UK authority.) Spitz J L. Genodermatoses. Baltimore: Lippincott, Williams & Wilkins, 1996. (Excellent colour drawings of each syndrome.) Tyldesley W R. A Colour Atlas of Oral Medicine. London: Wolfe, 1978.

Common symptoms of oesophageal disease Dysphagia (difficulty swallowing) is usually perceived by patients as ‘sticking’ of swallowed food. A careful clinical history is of great value in these patients, enabling accurate diagnosis in 80% of cases. Dysphagia for solid food usually results from mechanical obstruction of the oesophagus. Stricture (benign or malignant) is the usual cause. Dysphagia is also the cardinal symptom of motor dysfunction and is reported by almost all patients with disorders that interfere with bolus transit. In motor

What’s new • Proton pump inhibitors are now the most effective and cost-effective initial therapy for GORD • Endoscopic intrasphincteric injection of botulinum toxin is effective in achalasia and is the treatment of choice in elderly or frail patients • Ineffective oesophageal peristalsis is demonstrable in some patients with GORD and in some with other gastro-oesophageal abnormalities; it may be responsible for dysphagia in the absence of stricture

Practice points • Recurrent aphthous stomatitis is common, particularly in young adults; in severe cases, alternative diagnoses must be considered and excluded • Chronic erosive lichen planus carries a small risk of malignant transformation • Pemphigus vulgaris typically presents with painful oral erosions before frank cutaneous involvement • Thalidomide appears to be of value in the treatment of both Behçet’s syndrome and the aphthous ulceration of HIV

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R C Heading is Consultant Gastroenterologist at the Royal Infirmary, Edinburgh, UK, and Reader in the Department of Medicine at the University of Edinburgh. His main clinical and research interests are oesophageal and gastric disease and gastrointestinal motility disorders. M Tebaldi is a former Research Fellow in the Centre for Liver and Digestive Disorders at the Royal Infirmary, Edinburgh, UK. She qualified from the University of Verona, Italy, and trained in gastroenterology in Verona. Her research interests include gastrointestinal motility.

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Normal manometric trace using a pneumohydraulic capillary infusion system Wet swallow

Wet swallow

P1

P2

P3

P4 100 mm Hg

P5 5 seconds

The distal channel (P5) is in the lower oesophageal sphincter. The four proximal channels are 5 cm apart in the oesophageal body. Peristaltic waves, with normal amplitude, duration and velocity, and lower sphincter relaxation are recorded after wet swallows (5 ml water).

disorders, dysphagia may be intermittent and non-progressive, and is usually perceived by the patient to affect both solids and liquids. Although it may have an abrupt onset, it more commonly follows an insidious course. Dysphagia should be distinguished from odynophagia and from the globus sensation (see below), which does not usually interfere with swallowing. Oropharyngeal dysphagia is usually distinguished from oesophageal dysphagia by the patient’s awareness of inability to initiate swallowing properly and the occurrence of nasopharyngeal regurgitation; there may also be aspiration of swallowed fluid into the airway.

tory is impossible. Up to 30% of patients assessed for recurrent angina-like chest pain are reported to have no demonstrable cardiac abnormality, and about 50% of these are found to have oesophageal dysfunction. However, a cause–effect relationship is established only when pain coincides repeatedly with identified oesophageal dysfunction, and this can be shown in only a few patients. Mucosal lesions (e.g. neoplasms, inflammation) and gastrooesophageal reflux without mucosal injury may be associated with a central chest pain syndrome. The onset may be provoked by food ingestion, but usually no precipitating factor is identified. Episodes last from minutes to hours and patients may report a wide variety of manoeuvres used in attempts to alleviate discomfort.

Heartburn: the term ‘heartburn’ describes burning retrosternal discomfort, usually perceived to originate in the high epigastrium and to radiate upwards towards the neck. It characteristically develops after meals and may occur on changes in posture (e.g. stooping, lying down). Heartburn is the cardinal symptom of gastro-oesophageal reflux, but is also described by patients with motility disorders affecting the distal oesophagus. Heartburn may occur in gastric or duodenal disease (e.g. peptic ulceration, acute gastritis).

Odynophagia: the term ‘odynophagia’ means painful swallowing and should be distinguished from dysphagia. Characteristically, patients are aware of pain or a ‘raw feeling’ as the swallowed bolus passes down the oesophagus, but are certain that its passage is not obstructed. Acute inflammatory conditions affecting the oesophageal mucosa are usually responsible.

Regurgitation of solid or liquid food into the mouth or nasopharynx may follow a swallow immediately or may be delayed considerably in those with markedly abnormal transit and oesophageal retention. Characteristically, regurgitation is related to posture and is identified by patients as provoked by change of position (particularly bending forwards) or physical exercise.

Globus is characteristically described as ‘a lump in the throat’. It is usually felt at the level of the larynx and is unaffected by the act of swallowing. Other symptoms: dyspeptic symptoms, ENT symptoms, wheeze, chronic cough and tracheobronchial aspiration occur in various oesophageal motor disorders. Pulmonary complications may arise when coordination fails in the pharyngo-oesophageal segment during swallowing, or reflux of retained food and fluid occurs from a greatly dilated oesophagus (e.g. in achalasia).

Non-cardiac chest pain: in some patients, the pain associated with oesophageal disease resembles that of myocardial ischaemia so closely that distinction on the basis of the clinical his-

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into the oesophagus. Impaired cricopharyngeal relaxation may occur without other evidence of neurological or muscle disease, and may reflect reduced compliance of the muscle associated with increasing age.

Investigations in oesophageal motility disorders Radiology Barium swallow with fluoroscopy • Upper oesophageal sphincter disorders Defective opening of pharyngo-oesophageal segment Airway aspiration • Body motility Non-propulsive (tertiary) contractions Uncoordinated or weak post-swallow contractions • Adequacy of oesophageal emptying • Identification of hiatus hernia, mucosal ulceration, stricture, oesophageal dilatation

History and investigations: clinically, patients complain of dysphagia for solids and liquids and a tendency to aspirate swallowed material into the airway. Structural abnormality (e.g. pharyngeal carcinoma) must be excluded by direct inspection; diagnosis otherwise depends on X-ray videofluoroscopy. Manometric abnormalities do not correlate consistently with radiographic abnormality. In most individuals with the globus sensation, no structural or functional abnormality is evident.

Upper gastrointestinal tract endoscopy • Mucosal ulceration, stricture (NB: possibility of biopsy)

Management: treatment is disease specific, ranging from dietary modification and instruction on manoeuvres that may assist swallowing and reduce aspiration into the airway, to surgical treatment (cricopharyngeal myotomy). Most disorders in the pharyngo-oesophageal region are not helped by drug therapy.

Manometry Gold standard in the assessment of motor disorders • Upper oesophageal sphincter Tone of upper oesophageal sphincter and relaxation during swallowing Coordination between relaxation of upper oesophageal sphincter and contraction of pharynx • Body motility Evaluation of amplitude, duration and velocity of waves • Lower oesophageal sphincter tonic pressure and relaxation • Possibility of 24-hour pressure recording – temporal association between symptoms and oesophageal abnormalities

Gastro-oesophageal reßux disease (GORD) GORD is a common disorder in developed countries; the estimated prevalence is 7% of the adult population. The pathophysiology is multifactorial, but dysfunction of the lower oesophageal sphincter has a primary role; transient lower oesophageal sphincter relaxation and defective basal tone are involved. There may also be disordered motility of the lower oesophageal body (e.g. impairment or intermittent failure of peristalsis), causing prolonged exposure of the oesophagus to refluxed acid gastric contents. Helicobacter pylori infection has no direct relevance to GORD. The theoretical risk that acid reflux may be increased by eradication of Helicobacter appears not to be significant in practice.

pH monitoring • Acid reflux time • Number and duration of reflux episodes • Symptom index (% of symptom episodes associated with a reflux episode)

History and investigations: the cardinal symptoms of reflux are heartburn and regurgitation, aggravated by postural changes and usually most prominent after meals. When these are the only or the predominant symptoms, a confident diagnosis of reflux disease can be made. More commonly, however, a more complex combination of symptoms is evident and epigastric pain, nausea and bloating or other abdominal symptoms are described in addition to heartburn. Confident clinical diagnosis is then impossible and investigations may be required. Investigations are also necessary in patients who describe atypical or alarm symptoms (dysphagia, weight loss, vomiting or gastrointestinal blood loss) and when the symptoms have been unaffected by antacid self-medication. It is important to appreciate that many patients with GORD show no abnormality on endoscopy or on barium swallow. A few patients with GORD present with atypical symptoms such as chronic cough, hoarseness, asthma or angina-like chest pain. These individuals almost certainly require specialist assessment, including 24-hour oesophageal pH monitoring.

Specific indications • Atypical symptoms • Patient unresponsive to medical therapy • Preoperative assessment and follow-up of patient undergoing antireflux surgery • Normal endoscopy in patients with suspected reflux

Primary disorders of oesophageal motility Disorders of the upper sphincter and cervical oesophageal region The musculature of the upper sphincter and cervical oesophageal region is striated and under direct control of the brain stem and cranial nerves. Diseases affecting the brain stem or neural input to it affect normal swallowing; thus, swallowing may be compromised in Parkinson’s disease, motor neuron disease and multiple sclerosis, and after stroke. Striated muscle disorders (e.g. inflammatory myopathy, muscular dystrophy, myasthenia gravis) also cause difficulty in swallowing, usually manifested as poor propulsion of the swallowed bolus from the pharynx

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Management: in most cases, the aim of treatment is acceptable control of symptoms. Management should begin with a clear explanation of the nature and significance of GORD and the contribution of life-style changes to symptom control.

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Manometry (Figure 1) confirms the diagnosis – the combination of absent body peristalsis with absent or impaired postdeglutitive relaxation of the lower oesophageal sphincter (with or without increased resting sphincter pressure) is diagnostic when structural abnormality (e.g. neoplasm) at the cardia has been excluded. Muscle contraction in the achalasic oesophagus is generally low amplitude. Repetitive contraction waves with amplitudes exceeding 60 mm Hg have been thought to justify the diagnostic label ‘vigorous achalasia’; however, it is unclear whether this differs in any important respect from the more conventional achalasia pattern. Upper gastrointestinal endoscopy is an important diagnostic tool to exclude diseases that may mimic achalasia (e.g. carcinoma of the cardia) and to assess the oesophageal mucosa before therapeutic intervention.

• Antacid/alginate drugs are usually the first-line medication. • If these are inadequate, a standard dose of H 2-receptor blockade (e.g. cimetidine, 400 mg b.d., ranitidine, 150 mg b.d.) should produce improvement within 2 weeks, though maximal improvement may take longer. • In many patients, particularly those who have not responded to the treatment above, a proton pump inhibitor (lansoprazole, 30 mg, rabeprazole, 20 mg, omeprazole, 20–40 mg, esomeprazole, 40 mg, or pantoprazole, 40 mg daily) is the most effective treatment. In a few patients with severe reflux disease, combination therapy comprising a prokinetic and a proton pump inhibitor may be appropriate. GORD is often a chronic problem. It is usually necessary to complete the acute phase of treatment then stop medication and observe the outcome to determine whether maintenance treatment is required. Use of the minimum maintenance dose needed for symptom control is advisable; potent acid suppression is not necessary in every patient with reflux symptoms. Surgery should be considered in the absence of contraindications. Total (Nissen) or partial (e.g. Toupet) fundoplication performed laparoscopically by an experienced surgeon provides excellent control of reflux.

Management is directed towards symptom relief by reducing lower oesophageal sphincter pressure. The degenerative neural lesion cannot be corrected. Therapeutic options are as follows. Pharmacotherapy – nitrates (isosorbide dinitrate, 5–10 mg sublingually before meals) or calcium channel blockers (nifedipine, 10–20 mg) have a direct relaxant effect on the muscle of the lower oesophageal sphincter. They may give transient benefit while the patient awaits definitive treatment, but are not usually considered a long-term treatment. Pneumatic dilatation (endoscopy) and extramucosal oesophagomyotomy (Heller’s operation) – extramucosal oesophagomyotomy is now usually performed as a minimalaccess procedure. The aim of both procedures is to effect partial disruption of the lower oesophageal sphincter, by stretching it using an inflatable balloon positioned within the oesophageal lumen or by surgical myotomy at the cardia. Improvement in dysphagia and regurgitation is achieved with these procedures (60% success with a single dilatation, more with surgical myotomy) and benefit is often long lasting, but there is little effect on chest pain. Advantages of pneumatic dilatation are the brief period of discomfort, short hospital stay and relatively low cost. The disadvantages are lesser efficacy compared with myotomy and the risk of oesophageal perforation (2–4%). The most significant complication in patients treated surgically is gastro-oesophageal reflux (about 10%). Endoscopic intrasphincteric injection of botulinum toxin is an alternative to pneumatic dilatation or surgery. It carries a low risk of morbidity and mortality and may therefore be an attractive option in elderly or frail patients. Clinical improvement, with no serious side-effects, occurs in about two-thirds of patients; the average duration of response is 1.3 years. Multiple treatments are usually needed over time, but the effect tends to last longer with successive injections. It is unclear how many injections are needed for a satisfactory long-term outcome, or how safe such repeated treatment is.

Achalasia Achalasia is a primary motor disorder of the oesophagus. Failure of relaxation of the lower oesophageal sphincter on swallowing is a characteristic feature. Loss of peristaltic contraction in the oesophageal body also occurs, though non-peristaltic (synchronous) contractions are usually evident. Abnormalities in both muscle and nerve components can be detected on investigation, though degeneration of neuronal cell bodies in the myenteric plexus is thought to be the primary abnormality. The aetiology is unknown. In Latin America, Chagas’ disease (caused by Trypanosoma cruzi) produces a similar abnormality in the oesophagus. Achalasia affects the sexes equally and can occur at any age. In Western Europe, the incidence in adults is about 1/100,000/year. History: the diagnosis of achalasia is suspected from the clinical history. • Dysphagia for fluids and solids is the main symptom. It occurs in almost all patients and is sometimes associated with pain. • Regurgitation of undigested food is a common complaint (60–90%). It often occurs during or shortly after a meal. Some patients induce regurgitation to relieve an uncomfortable feeling of retrosternal fullness. Fluid retained in the achalasic oesophagus may regurgitate into the pharynx, particularly at night, leading to nocturnal coughing and pulmonary complications. • Retrosternal chest pain and heartburn, often precipitated by eating, are reported by up to 40% of patients. • Weight loss may signify more advanced disease, with marked retention of food and liquid in the dilated oesophagus. Investigations Barium swallow with fluoroscopy is the traditional method of assessing achalasia. It may reveal the classical ‘bird-beak’ appearance at the cardia, caused by failure of the sphincter to relax. The absence of peristalsis is evident. Radiological abnormalities may be subtle in some patients, however, and the diagnosis may be missed.

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Complications of achalasia are related to retention and stasis in the oesophagus. Irritation of the mucosa causes endoscopically evident oesophagitis. Aspiration of oesophageal contents into the airway may be particularly serious. Squamous carcinoma of the oesophagus occurs in patients with long-standing achalasia. Onset of symptoms can be delayed

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Achalasia: pressure tracing showing simultaneous and low-amplitude contractions in the oesophageal body Wet swallow

Wet swallow

P1

P2

P3

P4 100 mm Hg

P5 5 seconds

There is high tonic pressure and absent relaxation of the lower oesophageal sphincter after wet swallows.

Achalasia.Oesophageal radiograph showing moderate distension above the narrow gastro-oesophageal junction.

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because tumours often arise in a greatly dilated gullet. However, the risk of developing carcinoma is probably low (0.3% per year is a credible estimate). There is no good evidence that regular endoscopic surveillance is worthwhile.

this may reflect abnormal oesophageal sensation rather than primary reflux. Heartburn often responds poorly to antireflux therapy. • Dysphagia is usually intermittent; it varies on a daily basis from mild to very severe and is reported by up to 60% of patients. • Regurgitation of food or liquid bolus into the mouth or nasopharynx may accompany dysphagia, but less commonly than in achalasia.

Diffuse oesophageal spasm In diffuse oesophageal spasm, segmental simultaneous contractions of the oesophageal body occur, usually in response to swallowing, and are interspersed with normal peristalsis. In some patients, the abnormal contractions are high amplitude, exhibit multiple peaks and may be abnormally prolonged.

Investigations: on radiological examination, the barium bolus can be delayed, occluded or compressed by a number of ring contractions (‘corkscrew oesophagus’). No features are typical of diffuse spasm at endoscopic evaluation, though the procedure may be valuable in excluding alternative diagnoses such as oesophagitis and strictures. The relationship between manometrically demonstrable abnormality and the occurrence of symptoms remains uncertain. When abnormality is discovered in patients who are asympto-

History: diffuse oesophageal spasm can occur at any age; the mean age at presentation is about 50 years. • Chest pain is the most common symptom and is reported by at least 80% of patients. The pain may mimic that of myocardial ischaemia and many patients have undergone full cardiac evaluation before attention is directed to the oesophagus. Heartburn is a component of chest pain in up to 20% of patients;

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it should be noted that efficacy has not been established by formal clinical trials. Use of antidepressant medications such as amitriptyline and trazodone has been advocated, but there is no robust evidence of efficacy. Dilatation or surgical myotomy can be considered in patients with severe and persistent symptoms, particularly if there is also impairment of lower oesophageal sphincter relaxation, though improvement is not certain.

matic at the time of the study, it is probably sensible to consider a causal relationship tentative until clear temporal coincidence of pain and contraction abnormality can be identified. Management: explanation and reassurance are the first priorities: thereafter, therapy is usually directed towards reducing the amplitude and duration of oesophageal contractions. Oesophageal spasm is not usually progressive and treatment is aimed at symptom reduction. Isosorbide dinitrate or a calcium channel antagonist (nifedipine (Figure 2) or diltiazem) may be taken as required to relieve episodes of chest pain and dysphagia, though

Hypercontractile disorders High-pressure (> 190 mm Hg) peristaltic contractions in the oesophageal body, sometimes of prolonged duration (> 6 seconds),

Pressure tracings before and after administration of nifedipine, 10 mg, to a patient with oesophageal spasm The drug was retained in the mouth to allow buccal absorption. Wet swallow

P1

P2

P3

P4 200 mm Hg

P5 10 seconds

High and prolonged pressure wave (amplitude 600 mm Hg, duration 18.5 seconds) is recorded after a wet swallow Wet swallow

Wet swallow

P1

P2

P3

P4 100 mm Hg

P5 5 seconds

Normal wave pattern recorded 1 minute after the treatment 2

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have prompted use of the term ‘nutcracker oesophagus’ as a putative oesophageal explanation for otherwise unexplained chest pain. The peristaltic pattern of the nutcracker contraction is normal, however, which perhaps explains why dysphagia is usually absent. The nature and pathophysiology of the disorder and the relationship between pain and the manometric abnormality remain uncertain, but it should be noted that nutcracker oesophagus is a more common manometric finding than diffuse oesophageal spasm in patients with unexplained chest pain. Hypertensive lower oesophageal sphincter (abnormally high tonic pressure (> 45 mm Hg) with normal relaxation) is also a hypercontractile oesophageal disorder, but is even less well characterized. This manometic abnormality is encountered unexpectedly, often in patients with unexplained chest pain; dysphagia does not usually occur in these patients. Treatment of both disorders follows the principles described for diffuse spasm.

report symptoms. Reduced distal oesophageal contraction amplitude can also be observed in hypothyroidism, chronic alcoholism, amyloidosis and chronic pseudo-obstruction of any cause. In general, symptoms correlate with the severity of the motor impairment.

REFERENCES Clouse R E, Lustman P J, Eckert T C, Ferney D M, Griffith L S. Low Dose Trazodone for Symptomatic Patients with Esophageal Contraction Abnormalities. Gastroenterology 1987; 92: 1027–36. Fibbe C, Layer P, Keller J, Strate U, Emmermann A, Zornig C. Esophageal Motility in Reflux Disease before and after Fundoplication: A Prospective Randomised Clinical and Manometric Study. Gastroenterology 2001; 121: 5–14. Leite L P, Johnston B T, Barrett J, Castell J A, Castell D O. Ineffective Esophageal Motility (IEM): The Primary Finding in Patients with Non-specific Esophageal Motility Disorder. Dig Dis Sci 1997; 42: 1859–65. Spechler S J. AGA Technical Review on Treatment of Patients with Dysphagia caused by Benign Disorders of the Distal Esophagus. Gastroenterology 1999; 117: 229–33. Vaezi M F, Richter J E. Diagnosis and Management of Achalasia. Am J Gastroenterol 1999; 94: 3406–12. Wu E B, Cooke A, Anggiansah A, Owen W, Chambers J B. Are Oesophageal Disorders a Common Cause of Chest Pain despite Normal Coronary Anatomy? Q J Med 2000; 93: 543–50.

Hypocontractile disorders Patients in whom distal oesophageal peristaltic contractions are low amplitude (< 30 mm Hg) or simultaneous, or in whom swallowing repeatedly fails to trigger contractions that propagate down the full length of the oesophagus, may be said to have ‘ineffective oesophageal motility’. These abnormalities are most often seen in association with GORD (which is then the main focus of treatment), but may also be encountered in patients without GORD who suffer intermittent dysphagia, including individuals who have experienced episodes of bolus obstruction. No pharmacological treatment is available to increase peristaltic frequency or amplitude. Metoclopramide is theoretically beneficial but seems disappointing in practice.

FURTHER READING Adam A, Mason R C, Owen W J, eds. Practical Management of Oesophageal Disease. Oxford: Isis Medical Media, 2000. Cook I J, Kahrilas P J. AGA Technical Review on Management of Oropharyngeal Dysphagia. Gastroenterology 1999; 116: 455–78. Ragunath K, Williams J G. A Review of Oesophageal Manometry Testing in a District General Hospital. Postgrad Med J 2002; 78: 34–6. Richter J E. Oesophageal Motility Disorders. Lancet 2001; 358: 823–8. Spechler S J, Castell D O. Classification of Oesophageal Motility Abnormalities. Gut 2001; 49: 145–51.

Systemic diseases associated with oesophageal motor dysfunction Autoimmune diseases: disordered oesophageal motility is common in scleroderma (progressive systemic sclerosis, see MEDICINE 30:10, 36). The oesophagus is involved in up to 85% of patients. Collagen deposition in the lamina propria and submucosa is followed by atrophy of the smooth muscle and its replacement by fibrous tissue; thus, progressive failure of muscle contraction and incompetence of the lower sphincter occur. Clinical features of oesophageal involvement include heartburn and dysphagia for both solids and liquids. Gastro-oesophageal reflux is pronounced because the sphincter is affected and because oesophageal clearance is greatly impaired. Manometry shows reduced or absent contractions in the smooth muscle region of the oesophageal body and, usually, marked hypotension of the lower sphincter. Medical management is directed at control of the gastro-oesophageal reflux and its complications. Similar oesophageal features have been reported in related connective tissue diseases such as CREST syndrome (calcinosis, Raynaud’s phenomenon, oesophageal involvement, sclerodactyly, telangiectasia), polymyositis, dermatomyositis and mixed connective tissue disease.

Practice points • In patients describing persistent or recurrent dysphagia, an accurate diagnosis can usually be made from a careful clinical history • Heartburn is the classic and archetypal symptom of GORD, but many patients present with less specific symptoms; not all have oesophagitis – the oesophagus may be normal at endoscopy • Achalasia should be suspected in any patient with dysphagia, regurgitation and retrosternal discomfort or pain; manometry may be needed for confirmation • Oesophageal motility disorders are a potential cause of non-cardiac chest pain, but caution is mandatory when suggesting this diagnosis

Other diseases: more than 60% of patients with diabetes with evidence of peripheral or autonomic neuropathy may be shown to have disordered oesophageal motility; however, only a few

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