Idiopathic achalasia is a motility disorder characterized by incomplete relaxation of the lower esophageal sphincter and impaired peristalsis of the esophageal body. Defective eso- phageal emptying leads to progressive dilation and tortuosity of the esophagus. Anatomic and physiological studies suggest a dysfunction of the myenteric plexus in these patients, and an autoimmune pathogenesis has been hypothesized. The estimated annual incidence of the disease is 1/100,000 persons.
Dysphagia and regurgitation are the two major symptoms of the disease. Nocturnal regurgitation can lead to aspiration pneumonia and pulmonary abscess. Inability to swallow leads to weight loss in more than half of the patients. The incidence of squamous cell carcinoma of the esophagus is greater in patients with long standing achalasia than in the control population.
Diagnosis of achalasia requires the use of endoscopy, barium swallow study and esophageal manometry. Endoscopy must be performed in all patients to rule out other causes of dysphagia. Malignancy-induced secondary achalasia, often referred to as pseudoachalasia, should carefully be excluded.
Adenocarcinoma of the cardia is the most common tumour mimicking achalasia. Clinical features suggesting the possibility of a tumour are a short duration of dysphagia, a significant weight loss and an elderly patient. Because adenocarcinoma of the cardia may present as an infiltrating lesion with apparently normal mucosa, a computed tomo- graphic scan and/or endoscopic ultrasonography should be used in selected cases.
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