A 63-year-old woman presents with a history of progressive difficulty swallowing and pain when swallowing. She notes that the symptoms occur with both solids and liquids. The dysphagia has gradually worsened over time. A barium swallow study is performed, which reveals significant dilation of the oesophagus with a smooth, tapering narrowing at the lower end of the oesophagus, creating a characteristic “bird-beak” appearance. She denies any significant weight loss or history of autoimmune conditions.
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The most likely diagnosis in this case is achalasia. Achalasia is a motility disorder of the oesophagus, where the lower oesophageal sphincter (LES) fails to relax properly, leading to impaired peristalsis of the oesophagus and a narrowing of the distal oesophagus (the “bird-beak” appearance). It commonly presents with progressive dysphagia for both solids and liquids, as seen in this patient.
Key clinical features of achalasia include:
- Progressive dysphagia to both solids and liquids
- Regurgitation of undigested food
- Chest pain or discomfort
- Weight loss (though not always present)
- Heartburn or coughing, especially at night
2. What investigation can confirm the diagnosis in this case?
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The following investigations can confirm the diagnosis:
- Oesophageal manometry: This is the gold standard for diagnosing achalasia. It measures the pressure within the oesophagus and will reveal impaired LES relaxation and lack of peristalsis.
- Upper endoscopy: This is done to rule out other causes of dysphagia, such as strictures, masses, or tumours.
- Barium swallow: The characteristic “bird-beak” appearance on barium swallow study supports the diagnosis of achalasia, as seen in this case.
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Treatment for achalasia aims to relieve the obstruction at the lower oesophageal sphincter and improve oesophageal emptying. Options include:
- Pneumatic dilation: A balloon is used to stretch and weaken the LES, allowing easier passage of food. This is effective in many cases but may need to be repeated.
- Surgical myotomy (Heller myotomy): This involves cutting the muscle at the LES to reduce the obstruction. It is often combined with an anti-reflux procedure to prevent gastroesophageal reflux disease (GERD).
- Botulinum toxin (Botox) injection: Botox can be injected into the LES to weaken the muscle temporarily. This is less effective in the long term but may be used in patients who are not candidates for surgery.
- Medications: Drugs such as calcium channel blockers or nitrates can reduce LES pressure, though they are less effective than procedural treatments.
Each treatment option has its own risks and benefits, and the choice often depends on the patient’s age, health, and preferences.
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