Faculty Bibliography

Functional chest pain, functional heartburn, and reflux hypersensitivity are 3 functional esophageal disorders defined by the Rome IV criteria. Specific criteria, combining symptoms and the results of objective testing, allow for an accurate diagnosis of these conditions. Management may include medications targeted at optimizing acid suppression or neuromodulation, as well as a host of complementary or alternative treatment options. Psychological and behavioral interventions, such as cognitive behavioral therapy and hypnotherapy, have displayed substantial benefits in the treatment of functional chest pain and functional heartburn. Acid suppression and focused neuromodulation are key evidence-based treatment options for reflux hypersensitivity.

The recommended diagnostic criteria for achalasia have been recently updated by Chicago Classification version 4.0 (CCv4.0), the widely accepted classification scheme for esophageal motility disorders using metrics from high-resolution manometry (HRM). CCv4.0 continued upon prior versions by subtyping achalasia into type I, type II, and type III on HRM. The achalasia subgroup of the CCv4.0 Working Group developed both conclusive and inconclusive statements for the HRM diagnoses of achalasia subtypes. Conclusive achalasia on HRM is defined as an abnormal median integrated relaxation pressure (IRP) in the primary position of wet swallows along with 100% failed peristalsis, with type I achalasia having 100% failed peristalsis without panesophageal pressurization (PEP), type II achalasia with PEP in at least 20% of swallows, and type III achalasia having at least 20% of swallows premature with no appreciable peristalsis. An inconclusive HRM diagnosis of achalasia can arise when there is an integrated relaxation pressure (IRP) that is borderline or at the upper limit of normal in at least one position, there is an abnormal IRP in both positions but evidence of peristalsis with PEP or premature swallows, or there is peristalsis in the secondary position after apparent achalasia in the primary position. In patients with dysphagia and an inconclusive HRM diagnosis of achalasia, supportive testing beyond HRM such as a timed barium esophagram (TBE) for functional lumen imaging probe (FLIP) is recommended. The review recommends a diagnostic algorithm for achalasia, discusses therapeutic options for the disease, and outlines future needs on this topic.

BACKGROUND AND AIMS/OBJECTIVE:This study aimed to systematically evaluate a classification scheme of secondary peristalsis using functional luminal imaging probe (FLIP) panometry through comparison with primary peristalsis on high-resolution manometry (HRM). METHODS:706 adult patients that completed FLIP and HRM for primary esophageal motility evaluation and 35 asymptomatic volunteers ("controls") were included. Secondary peristalsis, that is, contractile responses (CRs), was classified on FLIP panometry by the presence and pattern of contractility as normal (NCR), borderline (BCR), impaired/disordered (IDCR), absent (ACR), or spastic-reactive (SRCR). Primary peristalsis on HRM was assessed according to the Chicago Classification. RESULTS:All 35 of the controls had antegrade contractions on FLIP panometry with either NCR (89%) or BCR (11%). The average percentages of normal swallows on HRM varied across contractile response patterns from 84% in NCR, 68% in BCR, 39% in IDCR, to 11% in ACR, as did the percentage of failed swallows on HRM: 4% in NCR, 12% in BCR, 36% in IDCR, and 79% in ACR. SRCR on FLIP panometry was observed in 18/57 (32%) patients with type III achalasia, 4/15 (27%) with distal esophageal spasm, and 7/15 (47%) with hypercontractile esophagus on HRM. CONCLUSIONS:The FLIP panometry contractile response patterns reflect a pathophysiologic transition from normal to abnormal esophageal peristaltic function with shared features with primary peristaltic function/dysfunction on HRM. Thus, these patterns of the contractile response to distension can facilitate the evaluation of esophageal motility using FLIP panometry.

Chicago Classification v4.0 (CCv4.0) is the updated classification scheme for esophageal motility disorders using metrics from high-resolution manometry (HRM). Fifty-two diverse international experts separated into seven working subgroups utilized formal validated methodologies over two-years to develop CCv4.0. Key updates in CCv.4.0 consist of a more rigorous and expansive HRM protocol that incorporates supine and upright test positions as well as provocative testing, a refined definition of esophagogastric junction (EGJ) outflow obstruction (EGJOO), more stringent diagnostic criteria for ineffective esophageal motility and description of baseline EGJ metrics. Further, the CCv4.0 sought to define motility disorder diagnoses as conclusive and inconclusive based on associated symptoms, and findings on provocative testing as well as supportive testing with barium esophagram with tablet and/or functional lumen imaging probe. These changes attempt to minimize ambiguity in prior iterations of Chicago Classification and provide more standardized and rigorous criteria for patterns of disorders of peristalsis and obstruction at the EGJ.

PURPOSE/OBJECTIVE:Familial dysautonomia (FD) is a rare hereditary sensory and autonomic neuropathy (HSAN-3) that is clinically characterized by impaired pain and temperature perception and abnormal autonomic function. Patients with FD have gastrointestinal dysmotility and report a range of gastrointestinal symptoms that have yet to be systematically evaluated. The aim of this study was to establish the frequency and severity of gastrointestinal symptoms in patients with FD. METHODS:The validated National Institutes of Health Patient-Reported Outcomes Measurement Information System (PROMIS) survey questionnaire, together with additional FD-specific questions, were distributed to 202 living patients with genetically confirmed FD who had been identified from the New York University FD Patient Registry or, when relevant, to their respective caretaker. As a comparison group, we used a general US adult population for whom PROMIS scores were available (N = 71,812). RESULTS:Of the 202 questionnaires distributed, 77 (38%) were returned, of which 53% were completed by the patient. Median age of the respondents was 25 years, and 44% were male. Gastrostomy tube was the sole nutrition route for 25% of the patients, while 53% were reliant on the gastrostomy tube only for liquid intake. The prevalence of gastrointestinal symptoms was significantly higher in each of the eight domains of PROMIS in patients with FD than in the controls. Gastrointestinal symptoms as measured by raw scores on the PROMIS scale were significantly less severe in the FD patient group than in the control population in all domains with the exception of the abdominal pain domain. The surveys completed by caregivers reported the same burden of symptoms as those completed only by patients. CONCLUSION/CONCLUSIONS:Gastrointestinal symptoms affect nearly all patients with FD. Gastrointestinal symptoms are more prevalent in adult patients with FD than in the average US adult population but are less severe in the former.

The esophagus serves the principal purpose of transporting food from the pharynx into the stomach. A complex interplay between nerves and muscle fibers ensures that swallowing takes place as a finely coordinated event. Esophageal function can be tested by a variety of methods, endoscopy, manometry, and reflux monitoring being some of the most important. Regarding pathophysiology, motor disorders, such as achalasia, often cause dysphagia and/or chest pain. Functional esophageal disorders are a heterogeneous group with hypersensitivity as a dominant pathophysiological factor. Gastroesophageal reflux disease often causes symptoms, such as heartburn and regurgitation, and a spectrum of disease, ranging from minimal mucosal damage visible only in the microscope to esophageal ulcers and strictures in the most severe cases. Eosinophilic esophagitis is an immune-mediated condition that can result in significant dysphagia and associated luminal narrowing. In the following, we will provide an overview of the most common esophageal disorders from a combined pathophysiological and clinical view.

INTRODUCTION: Small intestinal bacterial overgrowth (SIBO) has clinical overlap with irritable bowel syndrome (IBS) and is diagnosed either by endoscopic small bowel aspiration (SBA) with quantitative bacterial culture or hydrogen breath testing (BT). SBA is invasive and lacks standardization and BT has questionable accuracy and unreliable performance.
METHOD(S): Qualitative phone interviews with 7 GIs/3 IBS experts explored unmet needs in SIBO diagnosis and gathered feedback on a novel smart capsule bacterial detection system (SCBDS)^-an ingestible capsule with an integrated assay for wirelessly determining small intestinal total bacterial count based on an FDA-approved threshold of $10⁵ CFU/ml. A quantitative online survey of 28 academic and 62 community GIs assessed practice patterns and preferred clinical characteristics of SCBDS.
RESULT(S): GIs saw 77 IBS and 22 SIBO patients on average per month. Suspected SIBO patients (36%) were formally diagnosed by BT with academic GIs placing a greater importance on a formal diagnosis rather than empiric antibiotic therapy. 10% of practices performed SBA for SIBO diagnosis (Figure 1). SIBO diagnosis was evaluated by BT in 47% of patients with only a fraction of GIs giving high ratings for BT accuracy. Empiric antibiotic therapy was performed in ;50% of suspected SIBO patients across both settings, but 91% were at least somewhat concerned with this practice and 60% were unsatisfied with all current diagnostic options (Figure 2). Insufficient accuracy was the most frequently selected diagnostic unmet need, with 58% of GIs selecting it as one of the greatest unmet needs, followed by difficulty in interpreting results (48%) (Figure 3). Over 70% of GIs indicated that SCBDS would be more accurate than BT and would recommend it to almost two-thirds of patients evaluated for SIBO and to one-third for IBS. Two-thirds of GIs also anticipated using SCBDS first over empiric antibiotic therapy alone. In addition, 59% of BT users and 66% performing SBA would replace these methods with SCBDS.
CONCLUSION(S): GIs in both community and academic settings expressed a significant unmet need in SIBO diagnosis driven by BT performance limitations, and only a small minority of GIs were performing SBA to diagnose SIBO. A perceived strength of an FDA-approved SCBDS would be improved accuracy, interpretation and precision as compared to BT, with the majority of GIs suggesting they would replace conventional SIBO diagnostics with such a technology

INTRODUCTION: Esophageal food impaction (EFI) is a common initial presentation of eo-sinophilic esophagitis (EoE). Patients presenting with EFI requiring endoscopic intervention present an opportunity to obtain esophageal biopsies to evaluate for EoE and optimize diagnostic yield before initiation of empiric treatment. We aimed to evaluate practices of esophageal biopsy at time of EFI at our institution and identify missed opportunities to diagnose EoE.
METHOD(S): We performed a single center retrospective chart review on a subset of adult patients from 10/2015 -1/2020 who presented to NYU Langone Health with EFI. Patients who underwent upper endoscopy (EGD) and were found to have a retained esophageal food bolus were included. Those with prior diagnosis of EoE were excluded. Proportions were compared using Chi-square or Fisher's exact test, and rank sum tests were used to compare continuous variables. Logistic regression was used to assess factors associated with subsequent need for diagnostic EGD.
RESULT(S): 123 patients with EFI were reviewed, 50 (40.7%) were biopsied at the time of EGD (Table 1). Among those biopsied, a new diagnosis of EoE was found in 52%. Of the patients who did not undergo biopsy at index EGD, 23% underwent repeat EGD at our institution and were found to have a new EoE diagnosis. Biopsies performed during EGD for EFI did appear to decrease the need for repeat procedure (OR 0.63, 95% CI 0.25-1.63), although not statistically significant. Patients with furrows were more likely to be biopsied however the report of other classic endoscopic features of EoE (such as exudates, ring, stricture, edema), was not significantly associated with the rate of biopsy (Table 2). Time of procedure and history of prior EFI also did not appear to influence rate of biopsy.
CONCLUSION(S): Biopsy at the time of EFI is important to obtain a timely diagnosis of EoE. At our center, less than half of patients were biopsied at time of initial EGD for EFI, and over half of those biopsied were diagnosed with EoE. The diagnosis of EoE was missed in 23% patients who were not biopsied at time of EFI, and on subsequent EGD with biopsy were found to have EoE. This delay in biopsy likely leads to unnecessary EGDs and more patients who are unaware of their diagnosis. Future educational initiatives aimed at GI providers are needed to improve rates of biopsies during initial EGD for EFI to reduce the need for additional diagnostic procedures