History and exam

Key diagnostic factors

common

dysphagia

The key symptom is dysphagia to solids and liquids. Dysphagia to liquids is uncommon in structural causes of oesophageal obstruction, except in advanced disease. Therefore, its occurrence at presentation suggests an oesophageal motility disorder.[22]

Dysphagia always requires prompt investigation, usually with upper gastrointestinal endoscopy.

Other diagnostic factors

common

posturing to aid swallowing

To manage dysphagia, patients may adopt particular postures, such as arching the neck and shoulders, raising the arms, standing or sitting up straight during the meal, or walking around after a meal.[22]

retrosternal pressure/pain

Pressure may be precipitated by drinking fluids but eased by continued drinking.

Retrosternal pain typically affects younger people and may be relieved by drinking cold water.[24] It is often described as cramp-like in nature and may wake the individual from sleep.

This may persist even when dysphagia has improved following successful dilatation.

regurgitation

Regurgitation results from retention of food and liquids in the oesophagus and is more common later in the course of the disease when the oesophagus becomes dilated.

Bland, undigested food or saliva retained in the oesophagus regurgitates when the patient is in the recumbent position. This differs from regurgitation from gastro-oesophageal reflux, where the gastric regurgitate tastes sour.

gradual weight loss

Weight loss caused by achalasia tends to be gradual and mild; rapid weight loss should trigger the suspicion of malignancy.[23]

uncommon

heartburn

This may occur secondary to fermentation of food retained in the oesophagus, rather than gastric acid reflux past a high-pressure lower oesophageal sphincter.

slow eating

As a result of dysphagia, patients eat slowly and tend to take longer than others to finish their meals.

coughing/choking while recumbent

Secondary to regurgitation of retained food and liquids in the oesophagus.

recurrent chest infections

As a result of regurgitation of retained food, aspiration may result in chest infections with symptoms of coughing and choking, which can interrupt sleep.

sensation of a lump in the throat (globus)

Patients with achalasia may complain of a globus sensation (i.e., the feeling of a lump in the throat).

hiccups

Secondary to delayed transit of food in the oesophagus and diaphragmatic irritation.

Risk factors

strong

triple A (Allgrove) syndrome

One of the characteristic features of Allgrove syndrome is achalasia, along with alacrima and adrenal insufficiency.[17][18]

weak

herpes and measles viruses

Herpes and measles viruses have been associated with achalasia, and increased antibody titres against these viruses have been found in patients with achalasia compared with healthy controls.[14]

autoimmune disease

The association is supported by the presence of antibodies against the myenteric plexus in many, but not all, patients.

HLA class II antigens

Increased prevalence of HLA class II antigens has been reported in patients with achalasia, which may support an autoimmune aetiology.[14]

consanguineous parents

Achalasia has been identified among children whose parents are related.[16] However, familial achalasia is rare.

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