Gastrointestinal

Achalasia: diagnosis and treatment options

Clinical Overview and When to Suspect Achalasia

— Incidence ~1/100,000/year; prevalence ~10/100,000

— Bimodal age peak: 30–60 years, but seen at any age

— Equal sex distribution; no clear genetic predisposition (rare in Allgrove/triple-A syndrome)

— Selective loss of inhibitory neurons → unopposed cholinergic tone → hypertensive, non-relaxing LES

— Aperistaltic body → bolus stasis, progressive esophageal dilation, eventual sigmoid (end-stage) esophagus

— Dysphagia to BOTH solids and liquids from onset (motility pattern) — contrast with mechanical obstruction (solids first, then liquids)

— Regurgitation of undigested food, often nocturnal, with cough or aspiration

— Slow weight loss over months to years (not rapid like malignancy)

— Retrosternal chest pain, especially in younger patients

— Heartburn unresponsive to PPI — a common misdiagnosis as refractory GERD

— Age >60, rapid symptom onset (<6 months), profound weight loss

— Underlying malignancy (gastric cardia adenocarcinoma classic), paraneoplastic (small cell lung), or Chagas disease (endemic exposure)

Board pearl: The single most discriminating historical feature on Step 3 stems is dysphagia to liquids equal to or worse than solids from the very start of symptoms — this should immediately move achalasia to the top of the differential over peptic stricture or esophageal cancer.

Definition: Primary esophageal motility disorder defined by failure of LES relaxation plus loss of esophageal body peristalsis, due to degeneration of inhibitory (nitric oxide–releasing) myenteric plexus neurons in the distal esophagus.

Epidemiology:

Pathophysiology essentials:

When to suspect on Step 3:

Ambulatory clue: Patient drinks water with meals, raises arms, or arches back to push food past the LES (Valsalva maneuvers learned over years).

Red flags suggesting pseudoachalasia rather than primary disease:

Presentation Patterns and Key History

— Dysphagia (>90%): solids AND liquids; patients describe food "sticking" mid-chest; learned behaviors (drinking, standing, lifting arms) to clear bolus

— Regurgitation (~75%): bland, undigested food hours after eating; worse supine → nocturnal cough, recurrent aspiration pneumonia, halitosis

— Chest pain (~40%): retrosternal, can mimic angina; more common in younger patients and early disease ("vigorous" or type III achalasia phenotype)

— Weight loss (~60%): typically gradual; if rapid → think pseudoachalasia/malignancy

— Worse with cold liquids, emotional stress, hurried eating

— Relief with carbonated beverages, repeated swallows, standing

— "Does food get stuck with both liquids and solids?" → motility disorder

— "Do you wake up coughing or with food on your pillow?" → regurgitation with aspiration risk

— "Have you been treated for reflux without improvement?" → flag for achalasia masquerading as GERD

— Travel/residence in Latin America (especially Brazil, Bolivia) → Chagas-related achalasia (Trypanosoma cruzi destroys myenteric plexus)

— Family history of MEN2B, Allgrove syndrome (achalasia + alacrima + ACTH-resistant adrenal insufficiency)

— Score ≤3 = treatment success; >3 = treatment failure

Key distinction: Mechanical obstruction (Schatzki ring, peptic stricture, cancer) causes solid-food dysphagia first, with liquids tolerated until late. Motility disorders (achalasia, scleroderma, DES) cause both solids and liquids from onset — this is the highest-yield discriminator on Step 3 vignettes.

Cardinal symptom tetrad (in order of frequency):

Symptom course: Insidious, often 5+ years from onset to diagnosis; patients frequently misdiagnosed as GERD and trialed on PPIs without benefit.

Aggravating/relieving factors:

Key history questions for the exam stem:

Eckardt score (used clinically and on boards for severity and treatment response): scores 0–3 each for dysphagia, regurgitation, chest pain, weight loss; total 0–12.

Physical Exam Findings and Bedside Assessment

— Often unremarkable in early disease — a key teaching point; do not be falsely reassured

— Late disease: cachexia, temporal wasting, sarcopenia from caloric insufficiency

— Halitosis from fermenting retained esophageal contents

— Dental erosions possible from regurgitated material (less acidic than GERD; pattern differs)

— Cervical lymphadenopathy → think malignancy / pseudoachalasia

— Crackles at bases, especially right lower lobe → aspiration pneumonitis or pneumonia

— Wheezing in some patients (microaspiration mimicking asthma); look for "asthma" diagnosis that fails to respond to bronchodilators

— Clubbing or chronic bronchiectasis pattern in long-standing recurrent aspiration

— Important to document because chest pain mimics angina; rule out cardiac source in older patients before attributing chest pain to esophagus

— Typically benign; epigastric mass should raise concern for gastric cardia adenocarcinoma causing pseudoachalasia

— Vitals usually normal; orthostatic hypotension if severely volume-depleted from poor intake

— BMI trajectory across visits is more useful than a single value

— Albumin, prealbumin trends for nutritional reserve before procedural intervention

— Auscultation over xiphoid after swallow — delayed "splash" sound from retained esophageal contents (low sensitivity, not relied upon)

— Ability to attend work/social meals

— Caregiver-reported nighttime cough, sleep disruption

— Depression and social isolation are common — screen with PHQ-2

Step 3 management: In the outpatient setting, document baseline weight, BMI, and Eckardt score at every visit — these become the comparators for post-treatment response and trigger for re-intervention if symptoms recur.

General appearance:

Head and neck:

Pulmonary exam:

Cardiac exam:

Abdominal exam:

Hemodynamic/nutritional assessment:

Bedside maneuvers historically described:

Functional status assessment (Step 3 ambulatory flavor):

Diagnostic Workup — Initial Studies

— Step 1: Upper endoscopy (EGD) FIRST — primary purpose is to rule out mechanical obstruction and malignancy (pseudoachalasia) before pursuing motility testing

— Step 2: Barium esophagram — characteristic findings, useful adjunct

— Step 3: High-resolution esophageal manometry — gold standard, confirms diagnosis and subtypes

— Dilated esophagus with retained food, saliva, or froth despite NPO status

— Puckered LES that opens with gentle pressure ("pop" through) — this resistance is suggestive but not specific

— Normal mucosa (Candida esophagitis common from stasis — white plaques)

— Mandatory: Careful inspection and biopsy of the GE junction and gastric cardia to exclude infiltrating adenocarcinoma (pseudoachalasia)

— Retroflexion in the stomach to evaluate cardia from below

— "Bird's beak" tapering at the GE junction with proximal esophageal dilation

— Loss of normal peristaltic waves; tertiary (non-propulsive) contractions in vigorous achalasia

— Sigmoid or "megaesophagus" appearance in end-stage disease

— Timed barium swallow: measure column height at 1, 2, and 5 minutes — quantifies emptying and tracks treatment response

— CBC (anemia from poor intake or occult malignancy)

— CMP, albumin, prealbumin (nutritional)

— TSH (rule out hypothyroidism contributing to dysmotility)

— Chagas serology if epidemiologic exposure

Board pearl: Even when the barium swallow shows a textbook bird's beak, you still need EGD before treatment to exclude pseudoachalasia — Step 3 will punish skipping endoscopy in any patient ≥55 with recent-onset symptoms and weight loss.

Stepwise approach when achalasia is suspected:

Upper endoscopy findings in achalasia:

Barium esophagram findings (classic boards images):

Routine labs: Generally non-diagnostic but obtain:

Chest imaging: CXR may show widened mediastinum, air-fluid level in the esophagus, absent gastric air bubble, or aspiration infiltrates.

Diagnostic Workup — High-Resolution Manometry and Subtyping

— Elevated median integrated relaxation pressure (IRP) >15 mmHg (cutoff varies by catheter; standard for solid-state)

— 100% failed peristalsis in the esophageal body (no normal peristaltic contractions)

— Type I (classic): Failed peristalsis with no significant pressurization; minimal esophageal contraction; often advanced/end-stage; intermediate response to therapy

— Type II (with panesophageal pressurization): Failed peristalsis with panesophageal pressurization in ≥20% of swallows; best prognosis and response to all therapies (>90% with pneumatic dilation or myotomy)

— Type III (spastic): Failed peristalsis with premature/spastic contractions in ≥20% of swallows; chest pain prominent; POEM (per-oral endoscopic myotomy) preferred because longer myotomy can address spastic segment

— EndoFLIP (functional luminal imaging probe): measures distensibility of the EGJ; increasingly used intraoperatively and when manometry is equivocal

— Timed barium esophagram (TBE): quantitative tool both for diagnosis (column height >5 cm at 5 min strongly suggests achalasia) and post-treatment monitoring

— 24-hour pH monitoring: rarely needed pre-treatment; useful post-myotomy to assess for iatrogenic GERD

— Repeat after PPI washout

— Provocative maneuvers (rapid drink challenge)

— EndoFLIP if available

Key distinction: Achalasia subtype changes the first-line procedure choice: Type II → any of pneumatic dilation, Heller, or POEM; Type III → POEM is preferred due to ability to tailor a longer myotomy to the spastic segment.

High-resolution esophageal manometry (HRM) with the Chicago Classification v4.0 is the gold standard for diagnosis and subtyping.

Core diagnostic criteria:

Three subtypes (clinically and therapeutically important):

Adjunctive testing:

When manometry is non-diagnostic but suspicion remains:

Risk Stratification and Treatment Selection Logic

— Relieve dysphagia and regurgitation

— Improve esophageal emptying (timed barium <5 cm at 5 min)

— Eckardt score ≤3

— Prevent megaesophagus and need for esophagectomy

— Pneumatic balloon dilation (PD) — graded 30→35→40 mm balloons

— Laparoscopic Heller myotomy with partial fundoplication (LHM + Dor or Toupet)

— Per-oral endoscopic myotomy (POEM)

— Type I or II, good surgical candidate: PD, LHM, or POEM all comparable; shared decision-making

— Type III (spastic): POEM preferred — longer tailored myotomy

— Young patient (<40), male: PD has lower durability; LHM or POEM often favored

— Poor surgical candidate / high comorbidity: PD or, if not feasible, botulinum toxin injection or pharmacotherapy

— Sigmoid/end-stage esophagus refractory to definitive therapy: consider esophagectomy

— Nutritional repletion if cachectic

— Treat aspiration pneumonia/Candida esophagitis

— Smoking cessation, cardiopulmonary risk assessment for general anesthesia

Step 3 management: A 45-year-old healthy patient with Type II achalasia should be offered LHM + partial fundoplication, POEM, or graded pneumatic dilation as equivalent first-line options with shared decision-making documented — Step 3 rewards explicitly involving the patient in this choice.

Achalasia is not curable — all therapies are palliative, aimed at reducing LES pressure to relieve obstruction. Counsel patients accordingly.

Treatment goals:

Three definitive options (choose based on subtype, surgical candidacy, patient preference, local expertise):

Selection framework:

Center expertise matters — outcomes are best at high-volume motility centers; refer accordingly (value-based care, Step 3 systems flavor).

Pre-treatment optimization:

Pharmacotherapy — Medical Management

— Nitrates: Sublingual isosorbide dinitrate 5 mg 10–15 minutes before meals

— Calcium channel blockers: Nifedipine 10–20 mg sublingual before meals

— Efficacy modest (~50% symptom reduction in some patients), wanes over time

— Side effects often limit use: headache, hypotension, dizziness, peripheral edema, reflex tachycardia — particularly problematic in elderly

— Sildenafil reduces LES pressure; small studies show short-term benefit

— Not standard of care; cost and side effects limit routine use

— Not therapeutic for achalasia itself

— Started after myotomy/POEM to prevent reflux-induced complications (esophagitis, Barrett's)

— Pre-treatment PPI trial often fails — a diagnostic clue that the problem isn't GERD

— 100 units injected into LES in four quadrants

— Blocks acetylcholine release → reduces LES tone

— Effect lasts 6–12 months; requires repeat injection

— Best for elderly patients with multiple comorbidities who cannot tolerate procedure or anesthesia

— Repeated injections cause submucosal fibrosis → may complicate subsequent myotomy

— Eat slowly, chew thoroughly, drink water with meals

— Avoid late-evening meals; elevate head of bed

— Nutritional supplementation if weight loss continues

Board pearl: Botulinum toxin is the medical-management answer for the frail, elderly, or surgically prohibitive patient with achalasia — but warn that repeated injections can scar the LES and make a future Heller myotomy technically harder.

Role of pharmacotherapy is limited — reserved for patients who are not candidates for definitive procedural therapy or as a temporizing bridge.

Smooth muscle relaxants (lower LES pressure transiently):

Phosphodiesterase-5 inhibitors:

Anticholinergics, opioids: AVOID — worsen LES dysfunction and esophageal emptying; opioids in particular can induce or unmask opioid-induced esophageal dysmotility that mimics Type III achalasia

PPIs:

Botulinum toxin injection (endoscopic):

Counseling pearls:

Procedural and Surgical Management

— Endoscopically guided graded dilation: 30 mm → 35 mm → 40 mm balloons in series weeks apart

— Success: ~75–85% at 1 year; durability declines over 5 years; young men respond worst

— Major complication: esophageal perforation (~2%) — perform at centers with surgical backup; obtain immediate post-procedure water-soluble contrast esophagram if any chest pain or fever

— Less invasive, repeatable

— Anterior longitudinal myotomy of LES and distal esophagus (~6 cm esophageal + 2 cm gastric)

— Always paired with partial fundoplication (Dor anterior or Toupet posterior) to reduce post-op reflux — full Nissen contraindicated (causes obstruction in aperistaltic esophagus)

— Success: ~85–90% at 5 years; durable

— Complications: mucosal perforation (intraoperative, usually repaired), GERD (10–30%), splenic injury

— Endoscopic submucosal tunnel → myotomy of circular muscle of LES and distal esophagus

— Allows tailored, longer myotomy — superior for Type III achalasia and jackhammer/DES

— Efficacy comparable to LHM (~90% short-term); slightly higher rates of post-procedure GERD (~50%) because no fundoplication

— Requires expert endoscopist; complications include capnoperitoneum, mucosal injury, bleeding

— Reserved for end-stage sigmoid esophagus or failure of multiple myotomies

— High morbidity; only at experienced centers

— NPO → liquid → soft diet over days

— Water-soluble contrast study before resuming oral intake after LHM/POEM/PD

— Start PPI after LHM (especially without fundoplication) and routinely after POEM

CCS pearl: After pneumatic dilation, if the patient develops chest pain, tachycardia, fever, or subcutaneous emphysema, immediately order a Gastrografin esophagram, NPO, IV fluids, broad-spectrum antibiotics, and surgical consult — perforation is the dreaded early complication.

Pneumatic balloon dilation (PD):

Laparoscopic Heller myotomy (LHM) with partial fundoplication:

Per-oral endoscopic myotomy (POEM):

Esophagectomy:

Post-procedural care:

Special Populations — Elderly and Renal/Hepatic Impairment

— Higher prevalence of pseudoachalasia — lower threshold for endoscopic ultrasound or CT if any red flags (rapid weight loss, anemia, short symptom duration)

— Functional status drives therapy choice more than chronologic age:

– Robust, independent elder → LHM or POEM acceptable

– Frail elder with multiple comorbidities → botulinum toxin injection is preferred; repeat every 6–12 months

– Pneumatic dilation feasible but higher perforation risk with rigid, atrophic esophagus

— Aspiration risk is highest in this group — counsel on head-of-bed elevation, avoid late meals, swallow evaluation if recurrent pneumonia

— Polypharmacy review: discontinue anticholinergics, opioids if possible

— Achalasia treatments are largely non-pharmacologic, so dose adjustment is rarely needed

— Nitrates and CCBs require caution; CCBs accumulate less, but hypotension risk increases

— Sildenafil dose-reduce in CrCl <30

— Pre-procedural contrast (esophagram with Gastrografin) — Gastrografin is hyperosmolar; risk of aspiration pneumonitis greater than nephrotoxicity, but use barium if perforation is excluded

— CCBs (nifedipine) metabolized hepatically — start low, titrate

— Coagulopathy assessment before any endoscopic intervention; correct INR, platelets

— Portal hypertension with esophageal varices is a relative contraindication to pneumatic dilation and POEM — risk of catastrophic bleeding; involve hepatology

— Pre-procedural albumin <3.0 g/dL predicts poor wound healing post-LHM

— Consider short-term enteral nutrition (NJ tube past LES) if severe malnutrition before definitive therapy

Step 3 management: For an 82-year-old nursing home resident with achalasia and recurrent aspiration, the right answer is usually endoscopic botulinum toxin injection plus dietary modification and HOB elevation — not pneumatic dilation or myotomy.

Elderly patients (>65 years):

Renal impairment:

Hepatic impairment:

Nutritional considerations across special populations:

Special Populations — Pregnancy and Pediatrics

— Achalasia rarely diagnosed de novo in pregnancy; pre-existing disease may worsen due to progesterone-mediated smooth muscle relaxation paradoxically combined with mechanical effects of gravid uterus

— Diagnostic workup deferred when possible:

– Manometry is safe but uncomfortable

– Barium swallow involves ionizing radiation — avoid in first trimester; use only if essential

– EGD safe in second trimester if needed

— Management priorities:

– Conservative measures first: small frequent meals, soft diet, upright posture

– Pharmacotherapy: nitrates and nifedipine generally avoided; if needed, nifedipine acceptable

– Botulinum toxin is pregnancy category C but considered relatively safe and is the preferred intervention for refractory symptoms during pregnancy

– Defer pneumatic dilation, LHM, and POEM until postpartum unless severe malnutrition or aspiration

— Mode of delivery: vaginal delivery generally acceptable; avoid prolonged Valsalva if possible (rare reports of esophageal rupture)

— Rare; incidence ~0.1/100,000/year

— Presents with failure to thrive, recurrent pneumonia, vomiting, dysphagia; can be mistaken for GERD, eosinophilic esophagitis, or food refusal

— Allgrove (Triple-A) syndrome: Achalasia + Alacrima + ACTH-resistant adrenal insufficiency; autosomal recessive (AAAS gene)

— Diagnostic approach: same as adults — EGD, barium swallow, HRM

— Treatment: POEM and LHM are both effective; POEM increasingly preferred at pediatric centers; pneumatic dilation requires smaller graded balloons; botulinum toxin reserved for bridging

— Always screen for adrenal insufficiency in pediatric achalasia — early-morning cortisol and ACTH stim test

— Address transitions of care explicitly — surveillance, GERD risk, esophageal cancer counseling

Board pearl: A child with achalasia + recurrent hypoglycemia or unexplained hyperpigmentation = Allgrove syndrome — check cortisol and screen for alacrima with Schirmer test.

Pregnancy:

Pediatrics:

Adolescents transitioning to adult care:

Complications and Adverse Outcomes

— Aspiration pneumonia — leading cause of morbidity; recurrent or right-lower-lobe predominant

— Bronchiectasis from chronic microaspiration

— Megaesophagus / sigmoid esophagus — end-stage, irreversible dilation; only definitive treatment is esophagectomy

— Esophageal candidiasis from stasis — treat with fluconazole

— Malnutrition and weight loss with sarcopenia

— Volvulus or impaction of food bolus → acute obstruction → emergent endoscopy

— Boerhaave-type rupture from forceful regurgitation (rare)

— Risk increased 10–50× over baseline; absolute lifetime risk ~5%

— Develops from chronic stasis, mucosal inflammation, bacterial fermentation

— Typically mid-esophagus, squamous cell type (distinct from adenocarcinoma seen in GERD/Barrett's)

— Latency ~15–25 years from onset

— Surveillance EGD is controversial — not formally recommended by ACG, but many experts perform every 3 years after 10–15 years of disease in symptomatic patients

— Pneumatic dilation: perforation (~2%), GERD, chest pain

— Heller myotomy: mucosal perforation (intraop), GERD (10–30%), splenic injury, conversion to open

— POEM: GERD (up to 50% — many asymptomatic but endoscopically evident), capnomediastinum, mucosal injury, bleeding

— Botulinum toxin: transient chest pain, submucosal fibrosis, decreasing efficacy with repeat doses

— Esophagitis, peptic stricture, Barrett's esophagus, adenocarcinoma — surveillance EGD every 3–5 years in symptomatic patients post-myotomy

Key distinction: Pre-treatment cancer risk = squamous cell carcinoma (from stasis). Post-myotomy cancer risk = adenocarcinoma (from GERD/Barrett's). Both warrant counseling and selective endoscopic surveillance.

Disease-related complications:

Esophageal squamous cell carcinoma:

Treatment-related complications:

GERD-related sequelae post-treatment:

When to Escalate — Inpatient Triage and Consultation

— Acute food bolus impaction — emergent endoscopy for disimpaction; admit if airway compromise or unable to handle secretions

— Aspiration pneumonia — admit for IV antibiotics (cover for anaerobic and gram-negative aspiration flora: ampicillin-sulbactam, ceftriaxone + metronidazole, or piperacillin-tazobactam)

— Severe malnutrition / cachexia (BMI <16, albumin <2.5) — admit for enteral nutrition, refeeding precautions, optimization before procedure

— Suspected esophageal perforation post-dilation or post-myotomy — NPO, IV fluids, broad-spectrum antibiotics, surgical consult, urgent imaging (CT chest with oral contrast or Gastrografin esophagram)

— Acute chest pain mimicking ACS — admit for cardiac rule-out if older or risk factors

— New diagnosis with severe symptoms or pseudoachalasia workup — for expedited inpatient EGD, EUS, CT

— Gastroenterology — primary; for EGD, HRM, dilation, POEM, botulinum injection

— Thoracic or foregut surgery — for LHM, POEM if surgically performed, esophagectomy evaluation

— Nutrition — pre-procedural optimization, post-op diet advancement

— Pulmonology — recurrent aspiration, bronchiectasis

— Speech-language pathology — swallow evaluation in elderly, post-stroke patients with overlapping oropharyngeal dysphagia

— Palliative care — for end-stage patients not candidates for definitive therapy

— Respiratory failure from massive aspiration

— Hemodynamic instability from esophageal perforation/mediastinitis

— Severe refeeding syndrome with electrolyte derangement

CCS pearl: When a patient presents 12 hours post-pneumatic dilation with chest pain, tachycardia, leukocytosis, and subcutaneous emphysema → order stat Gastrografin esophagram, NPO, IV fluids, IV pip-tazo, thoracic surgery consult, and admit to ICU — this is the perforation/mediastinitis pathway.

Most achalasia care is outpatient. Inpatient admission and escalation indicated for:

Consultations:

ICU criteria:

Key Differentials — Other Esophageal Motility and Mechanical Disorders

— Adenocarcinoma of gastric cardia infiltrating LES — most common cause

— Submucosal tumors (GIST, lymphoma)

— Paraneoplastic (small cell lung cancer with anti-Hu antibodies)

— Clues: age >55, symptoms <6 months, weight loss >10 kg, difficult endoscopic passage through LES

— Workup: EUS, CT chest/abdomen, repeat biopsies

— Trypanosoma cruzi destroys myenteric plexus; identical manometric findings to primary achalasia

— Endemic in Central/South America; also affects colon (megacolon), heart (cardiomyopathy)

— Serology confirms; treatment is the same as primary achalasia

— Premature contractions with normal LES relaxation

— Intermittent dysphagia and chest pain

— Barium: "corkscrew" or "rosary bead" esophagus

— Manometry: ≥20% premature contractions; normal IRP (distinguishes from Type III achalasia)

— Hypercontractile esophagus (≥20% swallows with DCI >8000); normal LES relaxation

— Chest pain prominent; treat with CCBs, nitrates, neuromodulators (tricyclics), POEM in refractory

— Elevated IRP but preserved peristalsis — not achalasia by definition

— Often artifactual or due to mechanical issues; rule out hiatal hernia, opioid use, infiltrative disease

— Often associated with GERD; weak peristalsis but normal LES relaxation

— Absent peristalsis with HYPOtensive (not hypertensive) LES → severe GERD, strictures, Barrett's

— Opposite physiology of achalasia at the LES

Key distinction: Achalasia = failed LES relaxation + aperistalsis. Scleroderma = incompetent LES + aperistalsis. Both have aperistalsis; LES tone is the differentiator and dictates entirely opposite management (anti-reflux strategies vs. LES-disruption strategies).

Pseudoachalasia (secondary achalasia):

Chagas disease:

Diffuse esophageal spasm (DES) / Distal esophageal spasm:

Jackhammer esophagus:

Esophagogastric junction outflow obstruction (EGJOO):

Ineffective esophageal motility:

Scleroderma esophagus:

Key Differentials — Non-Motility Causes of Dysphagia

— Peptic stricture: chronic GERD, solids first; EGD with dilation; PPI

— Schatzki ring: intermittent solid dysphagia ("steakhouse syndrome"); B-ring at squamocolumnar junction; treat with single bougie dilation + PPI

— Eosinophilic esophagitis (EoE): young male, atopic history, food impaction; EGD shows rings/furrows; biopsy: ≥15 eos/HPF; treat with PPI, swallowed topical steroids (fluticasone, budesonide), dietary elimination

— Esophageal cancer: progressive solid → liquid dysphagia, weight loss, anemia; EGD with biopsy; staging EUS, PET-CT

— Zenker's diverticulum: elderly, halitosis, regurgitation of undigested food, neck mass that gurgles; barium swallow first (EGD risks perforation); cricopharyngeal myotomy ± diverticulectomy

— Esophageal webs: Plummer-Vinson (Fe-deficiency anemia + dysphagia + esophageal web; increased SCC risk)

— External compression: vascular rings (dysphagia lusoria from aberrant right subclavian), mediastinal masses, large left atrium

— Difficulty initiating swallow, choking, nasal regurgitation, coughing

— Causes: stroke, Parkinson's, myasthenia gravis, ALS, polymyositis, Zenker's

— Evaluate with video fluoroscopic swallow study (modified barium swallow) rather than esophagram

— Candida (white plaques, immunosuppressed), HSV (small ulcers), CMV (large ulcers, AIDS with CD4 <50)

— Odynophagia > dysphagia

— Doxycycline, bisphosphonates, KCl, NSAIDs, iron — taken with insufficient water, recumbent

— Sudden retrosternal pain after pill ingestion

Board pearl: A young man with intermittent solid-food impaction, atopy, and EGD showing concentric rings and linear furrows = eosinophilic esophagitis — get biopsies even if the mucosa looks normal, treat with PPI trial first (responsive vs non-responsive EoE no longer distinguished), then topical steroids.

Mechanical/structural:

Oropharyngeal dysphagia (transfer dysphagia):

Infectious esophagitis:

Pill esophagitis:

Post-Treatment Long-Term Plan and Secondary Prevention

— Proton pump inhibitor (omeprazole 20–40 mg daily or equivalent):

– Routine after POEM (no fundoplication, ~50% develop GERD)

– After LHM if reflux symptoms or pH study positive

– After pneumatic dilation as needed for reflux symptoms

— Reassess PPI need annually; do not continue indefinitely without indication, but achalasia post-myotomy is a valid long-term indication

— Eat slowly, chew thoroughly; sit upright during and after meals

— Finish meals ≥3 hours before bedtime

— Elevate head of bed 6–8 inches

— Avoid alcohol, smoking (esophageal cancer co-factors)

— Smaller, more frequent meals; soft/moist foods

— Timed barium esophagram or repeat manometry at 6–12 months post-procedure to objectively document response

— Eckardt score at every visit; >3 triggers re-evaluation

— Surveillance EGD every 3 years for long-standing disease (>10–15 years) to screen for SCC (controversial but commonly practiced)

— Post-myotomy: EGD with biopsies for Barrett's surveillance if symptomatic GERD

— Recurrent dysphagia with Eckardt >3 → repeat HRM, timed barium swallow, EGD

— Options: redo pneumatic dilation, salvage POEM after failed Heller, repeat botulinum

— Consider esophagectomy after multiple failed interventions or sigmoid esophagus

— Pneumococcal and influenza vaccines — aspiration-prone patients

— Counsel on smoking and alcohol cessation given SCC risk

Step 3 management: For a patient 6 months post-POEM with new heartburn, the answer is start a daily PPI and schedule EGD to evaluate for esophagitis or Barrett's — do not assume the symptom is "just reflux" and treat empirically without endoscopic assessment, as Barrett's risk is elevated.

Achalasia is lifelong — even after successful myotomy, peristalsis does not return; therapy reduces outflow obstruction only.

Post-procedural medication regimen:

Dietary and lifestyle:

Surveillance:

When to re-treat:

Vaccinations and general prevention:

Follow-Up, Monitoring, and Counseling

— 2–4 weeks post-procedure: wound check (if LHM), diet advancement review, address early dysphagia or new reflux

— 3 months: clinical assessment, Eckardt score, weight

— 6–12 months: timed barium esophagram (objective measure of emptying), repeat HRM if symptoms persist, EGD if GERD symptoms

— Annually thereafter: clinical visit, weight, Eckardt score, medication review (PPI necessity)

— Every 3 years after 10–15 years of disease: surveillance EGD for SCC (institutional practice; not universal guideline)

— Symptom burden: Eckardt score (target ≤3)

— Nutritional: weight, BMI, albumin trends

— Reflux: PPI use, breakthrough heartburn, regurgitation pattern (acidic vs. retained food = different problems)

— Respiratory: cough, recurrent pneumonia, screening for bronchiectasis if symptomatic

— Disease is chronic and incurable — set realistic expectations

— 20–30% retreatment rate over 5–10 years

— Lifelong risk of squamous cell carcinoma — smoking and alcohol cessation

— Aspiration risk — sleep posture, late-meal avoidance

— Pregnancy planning — discuss optimization before conception if female of reproductive age

— Speech-language pathology referral if overlapping oropharyngeal dysphagia

— Nutrition referral for sarcopenia, calorie/protein goals

— Pulmonary rehab if chronic aspiration sequelae

— Use validated tools (Eckardt, achalasia-specific QoL questionnaires)

— Discuss values: durability vs. invasiveness, reflux vs. dysphagia trade-offs

Board pearl: A post-Heller patient with recurrent dysphagia at 2 years — timed barium esophagram is the first-line outpatient test to assess emptying; if poor, proceed to repeat HRM and EGD before deciding on re-intervention.

Visit cadence after definitive treatment:

Monitoring parameters:

Counseling priorities at each visit:

Rehabilitation:

Patient-reported outcomes and shared decision-making:

Ethical, Legal, and Patient Safety Considerations

— Pneumatic dilation, LHM, and POEM each carry distinct risk-benefit profiles — shared decision-making is mandatory, with documented discussion of:

– Perforation risk (PD ~2%, LHM ~1%, POEM <1%)

– Long-term reflux (POEM 50%, LHM with fundoplication 10–30%)

– Need for lifelong PPI in many patients

– Possibility of retreatment (~20–30%)

– Alternative options including botulinum and medications

— Document patient understanding of palliative, non-curative nature of all therapies

— Elderly patient declining intervention despite recurrent aspiration — assess decision-making capacity; if intact, respect autonomy and shift to palliative goals

— Surrogate decision-makers for cognitively impaired patients — use advance directives and prior expressed wishes

— Iatrogenic perforation post-procedure — institutional event reporting; many states require disclosure to patient under "open disclosure" or apology laws

— Wrong-site procedures or medication errors — root cause analysis

— Post-procedural discharge is high-risk: ensure patient knows symptoms of perforation (chest pain, fever, dyspnea, neck swelling), has PPI prescription if indicated, knows diet advancement schedule, and has follow-up scheduled within 2–4 weeks

— Communicate explicitly with PCP about new long-term PPI, surveillance plan, and SCC counseling — closed-loop referral

— Medication reconciliation at every transition: discontinue anticholinergics and opioids that worsen dysmotility

— Access to high-volume motility centers is uneven; refer patients early to centers of excellence; advocate for insurance authorization

— Chagas-related achalasia disproportionately affects immigrant populations — language-concordant counseling and serologic screening

— Nitrates/CCBs for symptom control can cause hypotension — counsel on driving and fall risk in elderly

Step 3 management: When a frail 84-year-old refuses surgery and wants only botulinum injections despite recurrent aspiration, document capacity, align care with patient values, involve palliative care, and continue least-invasive therapy — autonomy trumps clinician preference when capacity is intact.

Informed consent for procedures:

Capacity assessments:

Mandatory reporting and safety:

Transition of care risk (Step 3 flavor):

Health equity considerations:

Driving and occupational safety:

High-Yield Associations and Rapid-Fire Clinical Facts

Board pearl: When a stem mentions a man younger than 40 with achalasia and good surgical candidacy, lean toward LHM or POEM rather than pneumatic dilation — PD durability is worst in this exact demographic.

Dysphagia to solids AND liquids from onset = motility disorder; achalasia is #1.

"Bird's beak" on barium = achalasia until proven otherwise.

"Corkscrew" esophagus on barium = distal esophageal spasm.

Chicago Classification v4.0 cutoff: IRP >15 mmHg + 100% failed peristalsis = achalasia.

Type II achalasia = panesophageal pressurization = best treatment response.

Type III achalasia = spastic = POEM preferred.

Always EGD before treatment to rule out pseudoachalasia.

Pseudoachalasia triad: age >55, symptoms <6 months, weight loss >10 kg.

Chagas disease: consider in Latin American patients; same management as primary achalasia; also screen for megacolon and cardiomyopathy.

Allgrove syndrome: Achalasia + alacrima + ACTH-resistant adrenal insufficiency (AAAS gene).

Botulinum toxin is the elderly/frail go-to.

Heller myotomy ALWAYS paired with partial fundoplication (Dor or Toupet — NEVER full Nissen in aperistaltic esophagus).

POEM has highest post-procedure GERD rate (~50%) because no fundoplication.

Pneumatic dilation: lowest efficacy in young men <40.

Esophageal SCC risk ↑10–50× in chronic achalasia (pre-treatment, from stasis).

Adenocarcinoma risk ↑ post-myotomy if GERD and Barrett's develop.

Avoid full Nissen, opioids, anticholinergics in achalasia.

Eckardt score ≤3 = treatment success.

Timed barium swallow is the simplest objective post-treatment monitoring test (height <5 cm at 5 min).

Scleroderma esophagus: aperistalsis + HYPOtensive LES → opposite of achalasia.

Plummer-Vinson syndrome: dysphagia + Fe-deficiency + esophageal web; ↑SCC risk; treat iron deficiency.

Schatzki ring: intermittent solid dysphagia "steakhouse syndrome" — single bougie dilation + PPI.

EoE: young atopic male, rings/furrows, ≥15 eos/HPF; PPI ± swallowed steroids.

Zenker's diverticulum: elderly, halitosis, regurgitation; barium first, not EGD.

Board Question Stem Patterns

— 35-year-old with 2 years of dysphagia to solids and liquids, regurgitation of undigested food, 10-lb weight loss, failed PPI trial. EGD normal. Next best step? → High-resolution manometry

— Distractors: repeat PPI trial, empiric dilation, CT chest

— Barium swallow shows tapered "bird's beak" at GE junction with dilated proximal esophagus. Diagnosis? → Achalasia, confirm with HRM

— 68-year-old with 4 months of dysphagia, 15-kg weight loss, manometry consistent with achalasia. Next? → EUS and CT chest/abdomen to rule out infiltrating cardia malignancy

— Patient with Type III (spastic) achalasia, chest pain prominent. Best treatment? → POEM (long tailored myotomy)

— 85-year-old nursing home resident, multiple comorbidities, achalasia diagnosis. Best therapy? → Endoscopic botulinum toxin injection

— 6 hours after pneumatic dilation, patient develops chest pain, fever, tachycardia, subcutaneous emphysema. Next step? → Gastrografin esophagram + NPO + IV antibiotics + surgical consult (esophageal perforation)

— Patient post–Heller myotomy with Nissen (full 360°) fundoplication now has worse dysphagia. Why? → Full wrap obstructs aperistaltic esophagus; partial wrap (Dor/Toupet) is standard

— Brazilian immigrant with achalasia + megacolon + cardiomyopathy → Chagas disease, confirm with serology

— Child with achalasia, recurrent hypoglycemia, decreased tearing → Allgrove syndrome; check cortisol

— Patient with 20-year history of treated achalasia presents with recurrent dysphagia and weight loss → EGD to evaluate for squamous cell carcinoma

— 1 year post-POEM, new heartburn → start PPI, EGD to assess for esophagitis/Barrett's

Key distinction: The most commonly missed Step 3 question is failing to order EGD before treating achalasia — even with classic manometry and barium findings, pseudoachalasia must be excluded, particularly in older patients with short symptom duration.

Stem pattern 1 — Classic presentation:

Stem pattern 2 — Imaging recognition:

Stem pattern 3 — Pseudoachalasia red flag:

Stem pattern 4 — Subtype-driven management:

Stem pattern 5 — Elderly frail patient:

Stem pattern 6 — Post-procedural complication:

Stem pattern 7 — Wrong fundoplication:

Stem pattern 8 — Chagas:

Stem pattern 9 — Pediatric:

Stem pattern 10 — Long-term cancer risk:

Stem pattern 11 — Post-POEM GERD:

One-Line Recap

Achalasia is an incurable primary esophageal motility disorder defined by failed LES relaxation and aperistalsis, diagnosed with EGD (to exclude pseudoachalasia), barium swallow, and high-resolution manometry, and treated palliatively with pneumatic dilation, laparoscopic Heller myotomy with partial fundoplication, or POEM — tailored by Chicago subtype and patient candidacy — with lifelong follow-up for symptom recurrence, GERD, and squamous cell carcinoma surveillance.

Board pearl: When in doubt on Step 3, the right next step in suspected achalasia is almost always upper endoscopy — to rule out the mimics that change everything downstream.

Diagnosis: Dysphagia to solids AND liquids from onset → EGD first (rule out pseudoachalasia/malignancy) → barium swallow (bird's beak) → HRM (IRP >15 + 100% failed peristalsis; subtype I/II/III by Chicago v4.0).

Treatment selection: Type II → any (PD, LHM, POEM); Type III → POEM preferred; frail elderly → botulinum toxin; young surgical candidate → LHM or POEM (PD durability worst in young men).

Post-procedure care: PPI routinely after POEM, as needed after LHM/PD; never use full Nissen in aperistaltic esophagus — always partial fundoplication (Dor or Toupet) with Heller; monitor with Eckardt score and timed barium swallow.

Long-term: Lifelong palliation; 20–30% retreatment rate; counsel on SCC risk (pre-treatment, from stasis) and adenocarcinoma risk (post-myotomy, from GERD/Barrett's); consider surveillance EGD every 3 years after 10–15 years of disease; involve PCP in transitions of care.