Achаlаsiа 1. Backgrоund Definitiоn: Primary esоphageal motility disorder characterized by impaired relaxation of the lower esophageal sphincter (LES) and loss of peristalsis in the distal esophagus. Pathophysiology: Degeneration of inhibitory ganglion cells in the myenteric (Auerbach’s) plexus leads to unopposed excitatory stimulation, causing LES hypertonicity and functional obstruction. Epidemiology: Rare (~1 in 100,000 annually); usually presents between ages 25–60; affects men and women equally. Etiology: Mostly idiopathic; secondary (pseudoachalasia) may result from malignancy (e.g., gastric cardia adenocarcinoma) or Chagas disease. 2. History Symptoms: Progressive dysphagia to both solids and liquids (unlike mechanical obstruction). Regurgitation of undigested food, especially at night. Chest pain or pressure after eating. Weight loss from poor intake. Possible heartburn-like symptoms unresponsive to PPIs. Duration: Typically develops gradually over months to years. Risk factors: None established; may have association with autoimmune or viral mechanisms. 3. Exam Findings Often unremarkable; may note mild weight loss or signs of malnutrition. Pulmonary findings (e.g., wheezing, cough) may occur from aspiration of regurgitated food. 4. Making the Diagnosis Gold standard: Esophageal manometry — shows absent peristalsis and incomplete LES relaxation (definitive diagnostic test). Commonly used/initial tests: Barium swallow (esophagram): “Bird’s beak” tapering at LES with proximal esophageal dilation (often first clue). Endoscopy (EGD): Performed to rule out malignancy (pseudoachalasia) or secondary causes; may show retained food or saliva. Note: All three tests are often used sequentially — barium swallow suggests diagnosis, manometry confirms, and endoscopy excludes malignancy. 5. Management A. Lifestyle / Supportive Eat slowly, chew thoroughly, and elevate head of bed. Avoid eating close to bedtime. B. Medications (temporary or bridge therapy) Nitrates or calcium channel blockers (e.g., nifedipine) lower LES pressure but have limited long-term benefit. Botulinum toxin injection into LES provides short-term relief (useful for nonsurgical candidates). C. Definitive Procedures Pneumatic dilation: Endoscopic balloon disruption of LES fibers; effective but may require repeat treatments. Heller myotomy (laparoscopic): Surgical division of LES muscles; often combined with partial fundoplication to prevent reflux. Peroral endoscopic myotomy (POEM): Minimally invasive endoscopic alternative to Heller myotomy with similar outcomes. Question A 38-year-old woman reports a 6-month history of progressive difficulty swallowing both solids and liquids. She also notes occasional regurgitation of undigested food and mild, unintentional weight loss. She has no heartburn relief with proton pump inhibitors. A barium swallow shows a dilated esophagus tapering to a narrow “bird’s beak” at the gastroesophageal junction. Which of the following is the most appropriate next diagnostic step to confirm the diagnosis?
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