Tag Archives: achalasia

Achalasia and Risk of Esophageal Cancers

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W Leijonmarck et al. Gastroenterology 2026; 171: 481-488. Open Access! Achalasia and Risk of Esophageal Squamous Cell Carcinoma and Adenocarcinoma in a Multinational Study

Methods: “A population-based case–control study was conducted in 5 Nordic countries from 1987 to 2023. Esophageal cancer cases (n = 35,604) were matched to 10 times as many background population controls by age, sex, calendar year, and country (n = 355,869). Conditional logistic regression provided odds ratios (ORs) with 95% confidence intervals (CIs), adjusted for smoking and alcohol, and additionally for GERD in a mechanistic model. All variables came from national health data registries.” The registries used prospectively collected data.

Key findings:

  • Absolute numbers of esophageal cancer: “Achalasia was present in 137 cases (96 squamous cell carcinomas and 41 adenocarcinomas) and 230 controls (99 squamous cell carcinomas and 131 adenocarcinomas)”
  • “Achalasia was associated with a strongly increased risk of esophageal squamous cell carcinoma (OR, 9.46)”
  • A moderate association was found for esophageal adenocarcinoma (OR, 3.05). This association “became attenuated and nonsignificant after adjustment for GERD and even weaker in patients treated with myotomy or pneumatic dilation.” The discussion notes the following: “possible pathway to adenocarcinoma is iatrogenic reflux caused by myotomy or pneumatic dilation that destroys the antireflux function of the lower esophageal sphincter.6 Alternatively, low esophageal pH that leads to adenocarcinoma in the achalasia esophagus may result from impaired esophageal clearance, allowing refluxed acid to linger, or from lactic acid production due to the fermentation of stagnant food.5,26,27“

My take: An increased risk is another ‘tough pill to swallow’ when diagnosed with achalasia. However, the authors note that “despite the strong association, routine cancer surveillance endoscopy may still not be recommended due to the low proportion (<1%) of achalasia in esophageal cancer.” In those with worsening dysphagia, this infrequent complication needs to be considered.

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Hallgrímskirkja, the largest church in Iceland, and the Statue of Leif Erikson standing directly in front of it in downtown Reykjavík. The concrete facade was inspired by the basalt lava rock columns found in Iceland.

NASPGHAN Paper: Dietary Management in Pediatric Aerodigestive and GI Dysmotility

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K El-Chammas et al. J Pediatr Gastroenterol Nutr. 2026; 83: 748-760. Dietary management and feeding considerations of pediatric aerodigestive and upper gastrointestinal motility disorders.

Oropharyngeal dysphagia (OPD):

  • “Untreated OPD (either penetration and/or aspiration) is associated with persistent symptoms, recurrent respiratory infections, elevations in pulmonary inflammatory markers, and even bronchiectasis”
  • “Because >80% of pediatric aspiration is silent, the presence of symptoms at the time of an aspiration event should not be the determining factor when considering thickening”
  • “Most infants with OPD and aspiration experience improvements in swallow function over time, and thickeners/delivery vehicles can be weaned or changed as swallow function, palate, and caloric needs change. Antegrade aspiration is unlikely to be seen in neurodevelopmentally normal children older than 2 years of age exhibiting persistent lower respiratory tract infections”
  • Table 2 lists common thickeners and key differences. In infants, cereals and gelmix (if >37 weeks gestational age) are recommended. In older age groups, xanthan gum (SimplyThick®), Corn starch (Thick-It®), Tapioca starch, and Tara gum (PuraThick®) are options.
  • “Thickening gastrostomy tube feeds either with commercial thickeners or food improves GI and pulmonary outcomes and reduces the number of gastroesophageal reflux events without prolonging gastric emptying”
  • Table 3 provides specific recommendations including the following: ‘The recommended thickener for formula-fed infants younger than 1 year of age is cereal or purées. Commercial thickeners may be an option for some expressed breast milk- or formula-fed infants under the age of 1 year without comorbidities, depending on institutional practices.”

Esophageal Dysmotility

This section reviews several disorders including achalasia, gastroesophageal reflux, and esophageal atresia.

  • Reflux: In infants with reflux, “thickening of feeds can reduce overt symptoms such as vomiting but does not decrease reflux events.” Also, in this population, “a trial of maternal cows’ milk elimination, extensively hydrolyzed or amino-acid based formulas (in more severe cases with intractable symptoms) may be appropriate”
  • Achalasia: “There are no clear guidelines on the management of feedings in pediatric or adult patients with achalasia…Patients should be encouraged to eat in an upright position and to minimize eating for several hours before bedtime. A liquid or purée may be required with the guidance of a dietitian to ensure adequate nutritional intake while waiting for the diagnosis and definitive management of achalasia”
  • Esophageal atresia: “Only 28% of children with EA are consuming age‐appropriate food textures within the first 2 years of life, with that improving to 70% of children over 5 years of age…Many infants with EA require gastrostomy tube placement because they cannot safely tolerate oral feeding or meet caloric requirements”
  • Table 4 summarizes recommendations for esophageal dysmotility, including “children with esophageal dysmotility should avoid foods with a high risk for esophageal obstruction/irritation, eat in an upright position, and avoid eating several hours before bedtime”

Gastric Dysmotility

  • “Most pediatric cases are idiopathic or post-viral, with less common causes being drug-induced or post-surgical”
  • “While dietary modification is often considered first-line therapy in patients with mild gastroparesis, it often results in suboptimal improvement in symptoms in clinical practice. Small, frequent meals and maintaining a post-prandial upright position may be better tolerated.74, 75 Liquids typically empty from the stomach faster than solids76; therefore, increasing liquid calories and switching from solid to liquid calories later in the day may help patients with their symptoms.”
  • “Fatty, acidic, spicy, and high-fiber foods can exacerbate symptoms in patients with gastroparesis as they delay gastric emptying, exacerbate pain, and promote release of cholecystokinin”
  • “Small-particle diets, consisting of puréed, blended, or finely ground foods, facilitate gastric emptying by reducing mechanical workload on the stomach”
  • “Caution is advised when initiating enteral or parenteral nutrition in patients with gastroparesis given the significant overlap with functional dyspepsia and increased prevalence of feeding intolerance in adolescents with disorders of gut–brain interaction”
  • “In aerodigestive patients with upper gut dysmotility and feeding intolerance, gastrostomy and/or post-pyloric tube placement may provide access to decompress as well as provide nutrition when oral feeding is inadequate to sustain appropriate growth and symptom control”
  • “Blenderized tube feeds may be considered over commercial formulas to help with symptoms, decrease healthcare utilization, and improve quality of life…The American Society for Parenteral and Enteral Nutrition recently published detailed practice recommendations (L Epp et al. Nutr Clin Pract. 2023; 38(6): 1190-1219) providing guidance to medical providers and family pertaining to the use of BTFs regardless of their indication”

My take: This is a useful article regarding potential dietary interventions across a wide range of pediatric GI disorders. Just like medications, dietary interventions can result in complications. As such, the involvement of experienced dietitians and careful follow-up are needed.

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Dysphagia:

Esophageal dysmotility:

Blenderized Diets:

Gastroparesis:

AI Diagnosis of Achalasia on Plain Chest X-ray

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T Ochaiai et al. Clin Gastroenterol Hepatol 2026; 24: 2308-2310. Open Access! Artificial Intelligence-Based Detection of Achalasia on Plain Chest Radiography

Methods: This retrospective study collected posteroanterior plain chest radiographs of
patients with and without achalasia. The training and validation datasets comprised 447
chest radiographs taken between January 2017 and March 2023.

Key findings:

  • In the validation dataset, the area under the curve for identifying achalasia was 0.971, and using Youden’s index, the sensitivity, specificity, accuracy, and positive and negative predictive values were 0.950, 0.917, 0.932, 0.905, and 0.957, respectively
  • In the temporal test dataset, the area under the curve for detecting achalasia was 0.964, and using Youden’s index, the sensitivity, specificity, accuracy, and positive and negative predictive values were 0.941, 0.891 , 0.901, 0.696 , and 0.983, respectively.
In Figure F, the CXR corresponds to the findings in the barium esophagogram in G

Discussion:

  • It may help detect patients with early achalasia with mild symptoms who are unlikely to undergo EGD. However, the rarity of the condition may result in many false positives.

My take: In this cohort, AI was developed and validated to detect achalasia on chest radiographs. This is yet another example of how AI can yield additional information from routine testing. Previously, AI has been shown to potentially identify diabetes from routine CXR (Emory News 2023: AI model enables earlier detection of diabetes through chest x-rays).

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Achalasia: Immune-Mediated Disease

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S Grover et al. Gut 2026;75:476–485. doi:10.1136/gutjnl-2024-334498. Open Access! First genome-wide association study reveals immune mediated aetiopathology in idiopathic achalasia

Key findings:

  • This genome-wide association study (GWAS) confirms the idiopathic achalasia (IA) “association of variants in HLA-DQB1 and HLA-DQA1, but also points to a more complex genetic risk architecture at this locus that involves an IA risk variant in HLA-DRB1. Moreover, the GWAS resulted in the identification of three novel disease variants outside HLA. One leads to an amino acid substitution with functional effect in PTPN22. One further novel IA risk variant leads to a downregulated expression of TNFSF8, TNFSF15 and TNC in immune-relevant cells. The remaining disease variant is located near ZNF365, but the cellular pathogenic mechanism remains unknown.”
  • “On the polygenic level, this study provides the first IA heritability estimate and shows that immune-mediated mechanisms that are shared with Crohn’s disease (CD) contribute to IA aetiopathology.”

My take: This study “highlights that immune-mediated mechanisms influenced by genetic risk are of major relevance for disease development.”

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Botox for Pediatric Gastrointestinal Disorders

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M Homan et al. J Pediatr Gastroenterol Nutr. 2024;79:1096–1105. Open Access! Drugs in focus: Botulinum toxin in the therapy of gastrointestinal disorders in children (Review)

Botox has been used for the following:

  • Achalasia
  • Cricopharyngeal achalasia
  • Retrograde cricopharyngeal dysfunction
  • Delayed gastric emptying
  • Anal achalasia
  • Constipation after Hirschsprung disease surgery
  • Selected functional constipation
  • Chronic anal fissure

With regard to achalasia, “Botox can be considered only in patients in whom rapid weight gain is important to improve surgical outcomes.”

With regard to gastroparesis/delayed gastric emptying in children, the authors note the following:

‘A recent retrospective study from the Mayo Clinic analysed the response to intrapyloric Botox in children (n = 20) with gastroparesis and concluded that intrapyloric Botox injection in children is safe and can provide temporary relief for patients with refractory upper gastrointestinal symptoms with and without gastroparesis.43 [This was] a meta-analysis, including six studies, 160 patients, which showed that 68% of patients responded to intrapyloric Botox irrespective of the presence of gastroparesis, while among patients diagnosed with gastroparesis the therapeutic response was 66%.43 These results suggest that intrapyloric Botox can be effective not only in children with gastroparesis but also in children with refractory functional upper gastrointestinal symptoms.’ In their conclusion, the authors note “Intrapyloric Botox injection is increasingly used for the treatment of gastroparesis but evidence supporting its use in children is still scarce.”

My take: Overall, this is a helpful review.

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Manometry for Persistent Dysphagia in Eosinophilic Esophagitis

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D Yogev et al. JPGN Reports; 2024 https://doi.org/10.1002/jpr3.12083. Open Access! Manometric findings in children with eosinophilic esophagitis and persistent post-remission dysphagia

In this 10-year retrospective review (2013-2023), the authors reviewed children with EoE referred for high-resolution impedance manometry (HRIM) due to persistent dysphagia despite histologic healing (i.e., <15 Eos/hpf).

Key findings:

  • Among a cohort of ~1500 children, only 4 patients met inclusion criteria:  histologic remission (<15 eos/hpf) and absence of fibrostenotic features on endoscopic evaluation
  • Thus, the estimated prevalence of post-remission dysphagia in this cohort was exceedingly rare (<0.05%).
  • On HRIM, all four patients had a hypomotile esophagus and abnormal bolus clearance. Lower esophageal sphincter integrated relaxation pressure values were normal in three patients and elevated in one. Two patients were diagnosed with ineffective esophageal motility, one with aperistalsis and one with achalasia type 1.
Manometry findings from 12 yo diagnosed with Achalasia Type 1

Discussion:

  • “Endoscopic evaluation of fibrosis is somewhat limited as less than 50% of biopsies contain an adequate sample of the lamina propria for evaluation..[Also, these] patients did not undergo endoluminal functional lumen imaging (Endoflip) which has been recently shown to correlate with fibrotic changes of the esophagus in pediatric patients…Nonetheless, this case series highlights the fact that esophageal dysmotility can persist, even in the absence of endoscopic or histologic findings”
  • The authors “did not study all EoE patients treated in our facility who had persistent dysphagia despite histologic remission of EoE, but rather explored just those who were referred for manometry. This methodology creates a risk of referral bias.”

My take: Though there is a referral bias due to the methodology, this study suggests that persistent dysphagia is rare in children who achieve EoE histologic remission. In addition, in those with significant dysphagia despite improvement in EoE, manometry is worthwhile.

A related study suggests that achalasia may be more common in patients with Klinefelter syndrome, though still quite rare: L Miller et al. JPGN Reports 2024: https://doi.org/10.1002/jpr3.12084 Open Access! Achalasia in Klinefelter syndrome: A suspected pediatric case as well as prevalence analysis suggesting increased risk in this population

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Who is Going to do POEM (Peroral Endoscopic Myotomy) in Children?

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AA Mencin et al. JPGN 2022; 75: 231-236. Peroral Endoscopic Myotomy (POEM) in Children: A State of the Art Review

This is a terrific review of POEM; it explains the procedure technique (with pictures), outcomes, indications and adverse events. The paper indicates that more than 300 children (as young as 11 months) have had POEM in published studies with good outcomes.

Interestingly, the authors state that 20-40 procedures “should be performed for competency and that 60 are required to achieve mastery.” Also, long-term data are lacking.

This paper extensively references a White Paper summary: DJ Scott et al. Gastrointestinal Endoscopy 2014; 80: 1-15. Open Access! Per-oral endoscopic myotomy white paper summary

My take: POEM has good data supporting its use, especially in adults. Still, it will be quite difficult for pediatric gastroenterologists to acquire sufficient expertise to do this procedure.

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“Exit Glacier” in Kenai Fjords National Park. This picture shows how much the glacier has retreated since 2005 due to global warming (the ice used to extend to this sign).

Briefly Noted: Pediatric Achalasia

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S Woodhull, DR Segar N Engl J Med 2021; 385:e64. DOI: 10.1056/NEJMicm2108193

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Achalasia Frequent in Patients with Eosinophilic Esophagitis

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M Ghisa et al. Clin Gastroenterol Hepatol 2021; 19: 1554-1563. Achalasia and Obstructive Motor Disorders Are Not Uncommon in Patients With Eosinophilic Esophagitis

In this study with 109 adults who were newly diagnosed with eosinophilic esophagitis (EoE), the authors consecutively performed high-resolution manometry (HRM). Key findings:

  • 68 (62%) had normal findings from HRM
  • 8 (7.3%) had achalasia (1 with type 1, 4 with type 2, and 3 with type 3)
  • 9 (8.3%) had major motor disorders of esophagus (& not achalasia) and 24 (15.6%) had minor motor disorders

These findings are important because the diagnosis of EoE could result in a diagnostic delay of concurring achalasia and because the presence of esophageal eosinophilia could perhaps play a role in the pathogenesis of achalasia (or vice versa). The finding of achalasia in 7.3% of this population is exponentially higher than the estimated prevalence of achalasia in the general population (10-16 cases per 100,000).

My take: In patients with EoE, further diagnostic workup is indicated if there are persistent symptoms.

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Watersound Beach, FL

Achalasia -More Complexity to Pathophysiology?

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RK Mittal et al. Gastroenterol 2020; 159: 864-72. Three-Dimensional Pressure Profile of the Lower Esophageal Sphincter and Crural Diaphragm in Patients with Achalasia Esophagus

This prospective study combined 3-dimensional high-resolution manometry (3D-HRM) with detailed analysis of computed tomography images to study the EGJ (esophagogastric junction) in patients with achalasia (n=12) and healthy controls (n=10). Key finding: Besides LES, the 3D pressure profile of the EGJ can indicate anatomic and functional abnormalities of the crural diaphragm muscle in patients with achalasia esophagus

Full text editorial: DA Katzka, M Fox. Gastroenterol 2020: 159: 821- 23. Achalasia: When a Simple Disease Becomes Complex

“In this edition of Gastroenterology, researchers led by Ravi Mittal …demonstrated an asymmetric, extrinsic CD (crural diaphragm) component to EGJ pressure superimposed on the intrinsic LES.”

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