Primary esophageal motility disorder with impaired LES relaxation and absent peristalsis.
Also known as: achalasia, esophageal achalasia, cardiospasm
Overview
Primary esophageal motility disorder characterized by failure of the lower esophageal sphincter (LES) to relax with swallowing and absent peristalsis in the esophageal body, resulting in functional obstruction at the gastroesophageal junction.
Epidemiology
Incidence 1 per 100,000 per year; equal sex distribution; peak presentation between ages 30-60. Often diagnosed years after symptom onset.
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Pseudoachalasia: malignancy at GEJ (gastric/esophageal adenocarcinoma) — must exclude
Chagas disease (Trypanosoma cruzi) — Latin America
Familial cases and association with autoimmune disorders (Allgrove/triple A syndrome)
Pathophysiology
Selective degeneration of inhibitory neurons (nitric oxide, VIP) in the myenteric (Auerbach) plexus of the distal esophagus and LES. Loss of inhibition leaves unopposed excitatory cholinergic activity → failure of LES relaxation. Loss of coordinated peristalsis → dilation and stasis. Etiology unknown; autoimmune and viral triggers (HSV-1) proposed.
Clinical presentation
Symptoms
Gradual, progressive dysphagia to BOTH solids and liquids (hallmark — distinguishes from mechanical obstruction)
Regurgitation of undigested food and saliva, worse supine
Chest pain (especially in early/spastic achalasia)
Weight loss
Nocturnal cough or aspiration
Heartburn (paradoxical; from food fermentation, not acid reflux)
Signs / physical exam
Often normal exam
Weight loss, cachexia in advanced disease
Halitosis from retained food
Classic findings
Dysphagia to solids AND liquids from onset; patient must drink water to push food down or maneuver the body to facilitate emptying.
Differential diagnosis
Pseudoachalasia (malignancy at GEJ) — Short symptom duration, marked weight loss, age >55, rapid progression; EGD and EUS critical to exclude
Distal esophageal spasm — Chest pain dominant, intermittent dysphagia; manometry with premature contractions and normal LES relaxation
Jackhammer esophagus — Hypercontractile peristalsis with elevated DCI on manometry; chest pain and dysphagia
Chagas disease — Latin American origin; megaesophagus plus megacolon and cardiomyopathy
Diagnostic workup
Diagnostic criteria
Chicago Classification v4.0 (manometry): elevated median IRP + absent peristalsis. Three subtypes by contractile pattern: Type I (classic, no contractility), Type II (panesophageal pressurization in ≥20% of swallows — best treatment response), Type III (spastic, premature contractions — worst response, may need POEM).
Labs
No specific labs; CBC/BMP/albumin to assess nutritional status
Imaging
Barium esophagram — 'bird's beak' tapering at GEJ, dilated esophagus with air-fluid level, loss of peristalsis; timed barium swallow quantifies emptying
Upper endoscopy — REQUIRED to exclude pseudoachalasia/malignancy; may show retained food/saliva, dilated esophagus, puckered or tight LES that pops open with gentle pressure
Post-treatment GERD (highest after POEM; lower after Heller with fundoplication)
Esophageal perforation (during dilation or surgery)
PANCE pearls
ALWAYS perform EGD before treating — pseudoachalasia from malignancy at GEJ mimics achalasia perfectly; suspect when symptoms <6 months, weight loss out of proportion, age >55.
Manometry is the gold standard — barium esophagram and EGD support the diagnosis but cannot replace it.
Chicago Classification subtype guides therapy — Type II has the best treatment response; Type III often requires POEM.
Surveillance for squamous cell carcinoma in long-standing disease is controversial — high-risk groups may benefit from periodic EGD.
Pharmacologic therapy is rarely effective and is reserved for patients who cannot undergo definitive therapy.
Post-POEM GERD is common (up to 50%) — counsel about lifelong PPI; Heller with fundoplication has lower GERD rates.
References
ACG 2020 — Vaezi MF et al. ACG Clinical Guidelines: Diagnosis and Management of Achalasia. Am J Gastroenterol 2020;115:1393-1411
Chicago Classification v4.0 — Yadlapati R et al. Esophageal motility disorders on high-resolution manometry: Chicago classification version 4.0. Neurogastroenterol Motil 2021;33:e14058
European Achalasia Trial — Boeckxstaens GE et al. Pneumatic Dilation versus Laparoscopic Heller's Myotomy for Idiopathic Achalasia. NEJM 2011;364:1807-1816
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