Gastrointestinal · Year 2 · from Gastrointestinal
Case 1: Achalasia
Patient Presentation
Demographics: 42-year-old female
Chief Complaint: Progressive difficulty swallowing for 2 years
History of Present Illness: The patient reports gradually worsening dysphagia to both solids and liquids over the past 2 years. She describes food "getting stuck" in her chest and frequently regurgitates undigested food, sometimes hours after eating. She has lost 15 pounds unintentionally. She notes that cold liquids seem to worsen symptoms. She denies heartburn but reports intermittent chest pain.
Past Medical History: None significant
Social History: Non-smoker, no alcohol use
Physical Examination
- Vital Signs: BP 118/72 mmHg, HR 74 bpm, BMI 22 (previously 25)
- General: Thin female, appears well-nourished despite weight loss
- Neck: No lymphadenopathy
- Chest: Clear to auscultation
- Abdomen: Soft, non-tender, no masses
Workup and Results
- Barium Swallow: Dilated esophagus with smooth tapering at the gastroesophageal junction ("bird's beak" appearance); minimal contrast passage into stomach
- Upper Endoscopy: Dilated esophagus with retained food debris; tight but traversable gastroesophageal junction; no mucosal lesions or masses
- High-Resolution Esophageal Manometry: Elevated integrated relaxation pressure (25 mmHg, normal <15); absent peristalsis in the esophageal body; Type II achalasia pattern
Barium swallow demonstrating the classic "bird's beak" appearance of achalasia, with a dilated esophagus tapering smoothly to a narrowed gastroesophageal junction due to failure of LES relaxation.
Image Source: Case courtesy of Radiopaedia.org
Diagnosis
Type II Achalasia
Clinical Correlation to Motility Physiology
Achalasia results from selective destruction of inhibitory neurons in the myenteric plexus that normally release nitric oxide (NO) and vasoactive intestinal peptide (VIP) to relax the lower esophageal sphincter. Without these inhibitory signals, the LES remains tonically contracted and cannot undergo swallow-induced relaxation. Additionally, the loss of coordinated peristalsis in the esophageal body means the esophagus cannot effectively propel food toward the stomach. The dysphagia to both solids and liquids from onset distinguishes achalasia from mechanical obstruction.
Treatment
- Peroral endoscopic myotomy (POEM) - recommended given Type II pattern and good response rates
- Alternatives: pneumatic dilation or laparoscopic Heller myotomy with fundoplication
- PPI therapy post-procedure for reflux prevention