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Functional Gastrointestinal Disorders (FGIDs): Diagnosis and Pathophysiology

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A special issue of Diagnostics (ISSN 2075-4418). This special issue belongs to the section "Pathology and Molecular Diagnostics".

Deadline for manuscript submissions: closed (30 June 2023) | Viewed by 21460

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Prof. Dr. Jiande Chen

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Guest Editor

Department of Internal Medicine, University of Michigan, Ann Arbor, MI 48109, USA
Interests: functional GI diseases; visceral pain; neuromodulation; acupuncture; medical device

Dr. Gengqing Song

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Guest Editor

Division of Gastroenterology, MetroHealth Medical Center, Case Western Reserve University, Cleveland, OH 44109, USA
Interests: neurogastroenterology and motility; neuromodulation; GERD; functional dyspepsia; gastroparesis
Special Issues, Collections and Topics in MDPI journals

Prof. Dr. Ching Liang Lu

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Guest Editor

1. Endoscopy Center for Diagnosis and Treatment, Taipei Veterans General Hospital, Taipei, Taiwan
2. Institute of Brain Science, National Yang Ming Chiao Tung University, Taipei, Taiwan
Interests: functional GI diseases visceral pain; brain-gut interaction AI in endoscopy

Special Issue Information

Dear Colleagues,

FGIDs such as functional dyspepsia and irritable bowel syndrome are the most common disorders seen by gastroenterologists. FGIDs are often recognized by the coexistence of multiple morphologic and physiological abnormalities, including motility disturbance, visceral hypersensitivity, altered mucosal and immune function, altered gut microbiota, and altered central nervous system processing. FGIDs affect over 40% of people worldwide, decrease quality of life, and impose a significant burden on healthcare systems. The accurate diagnosis and better understanding of pathophysiology are critically important for FGIDs. Authors are invited to submit original research articles, mini-reviews, systematic reviews, meta-analyses, and case reports on the diagnosis and pathophysiology of FGIDs.

FGIDs: gastroesophageal reflux disease, non-cardiac chest pain, dysphagia, functional dyspepsia, gastroparesis, intestinal pseudo-obstruction, small intestinal bacterial overgrowth, intestinal gas, constipation, diarrhea, and fecal incontinence;
Diagnostic methods: esophageal manometric, electrogastrography, impedance, barostat, ultrasound, magnetic resonance imaging, anorectal manometry, and other novel methods;
Pathophysiology: gastrointestinal dysmotility, visceral hypersensitivity, disorders of the brain–gut interaction, autonomic dysfunction, impaired barrier function, dysbiosis, altered autoimmune mechanisms, inflammatory, altered brain functions, etc.

Due to nature of the journal, contributions solely on the management of FGIDs are not suitable for this Special Issue. If needed, potential contributors may send their abstracts to this Special Issue for clarification.

Prof. Dr. Jiande Chen
Dr. Gengqing Song
Prof. Dr. Ching Liang Lu
Guest Editors

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Keywords

functional gastrointestinal disorders
diagnosis
treatment approach
ROME criteria

Published Papers (9 papers)

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Research

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12 pages, 2783 KiB

Open AccessArticle

A Comparison between Chicago Classification Versions 3.0 and 4.0 and Their Impact on Manometric Diagnoses in Esophageal High-Resolution Manometry Cases

by En Xian Sarah Low, Yen-Po Wang, Yong-Cheng Ye, Pei-Yi Liu, Kuan-Yi Sung, Hung-En Lin and Ching-Liang Lu

Diagnostics 2024, 14(3), 263; https://doi.org/10.3390/diagnostics14030263 - 25 Jan 2024

Viewed by 739

Abstract

High-resolution manometry (HRM) facilitates the detailed evaluation of esophageal motility. In December 2020, Chicago classification (CC) version 4.0 introduced modifications to improve consistency and accuracy. We conducted this study to compare the differences in the interpretations of HRM examinations between CC 3.0 and 4.0. Consecutive HRM records at a Taiwan tertiary medical center, including wet swallows and MRS performed in both supine and sitting positions from October 2019 to May 2021, were retrospectively reviewed and analyzed using both CC versions 3.0 and 4.0. A total of 105 patients were enrolled, and 102 patients completed the exam, while three could not tolerate HRM sitting up. Refractory gastroesophageal reflux disease (GERD) symptoms (n = 65, 63.7%) and dysphagia (n = 37, 36.3%) were the main indications. A total of 18 patients (17.6%) were reclassified to new diagnoses using CC 4.0. Of the 11 patients initially diagnosed with absent contractility, 3 (27.3%) were reclassified as having Type 1 achalasia. Of the 18 patients initially diagnosed with IEM, 6 (33.3%) were reclassified as normal. The incidence of diagnosis changes was similar in both the dysphagia and refractory GERD symptoms groups (21.6% versus 15.3%, p = 0.43). The use of CC 4.0 led to changes in the diagnoses of esophageal motility disease, irrespective of examination indications. Early adoption improves the accuracy of diagnoses and affects patient management. Full article

(This article belongs to the Special Issue Functional Gastrointestinal Disorders (FGIDs): Diagnosis and Pathophysiology)

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11 pages, 1898 KiB

Open AccessArticle

Esophagogastric Junction Outflow Obstruction Is Likely to Be a Local Manifestation of Other Primary Diseases: Analysis of Single-Center 4-Year Follow-Up Data

by Yan Wang, Ting Yu, Feng Zhu, Ying Xu, Yun Bao, Ling Zhang, Lin Lin and Yurong Tang

Diagnostics 2023, 13(14), 2329; https://doi.org/10.3390/diagnostics13142329 - 10 Jul 2023

Viewed by 1627

Abstract

Background: Whether esophagogastric junction outflow obstruction (EGJOO) is a variant of achalasia cardia (AC) or an esophageal motility state of certain organic or systemic diseases remains controversial. We aimed to investigate the differences between EGJOO and AC in clinical characteristics and outcomes through a 4-year follow-up. Methods: Patients diagnosed with primary EGJOO or AC were included. Based on the presence of concomitant disease, EGJOO patients were divided into a functional and an anatomical EGJOO group; similarly, patients with AC were divided into an AC with organic disease group and a true AC group. Disease characteristics and high-resolution manometry (HRM) parameters were retrospectively compared between the groups, and the development of organic diseases that could affect esophageal motility disorders and responses to treatment were examined during the follow-up. Symptom relief was defined as an Eckardt score of ≤3 after the treatment. Results: The study included 79 AC patients and 70 EGJOO patients. Compared with patients with AC, EGJOO patients were older, had shorter disease duration, a lower Eckardt score, and were more likely to have concurrent adenocarcinoma of the esophagogastric junction (AEG) and autoimmune disease (p < 0.05 for all). The severity of dysphagia and Eckardt scores were higher in the anatomical EGJOO group than in the functional EGJOO group. Significant differences were seen in HRM parameters (UES residual pressure, LES basal pressure, and LES residual pressure) between AC and EGJOO patients. However, no significant differences in HRM parameters were observed between the functional EGJOO and anatomical EGJOO groups. Sixty-seven (95.71%) patients with EGJOO and sixty-nine (87.34%) patients with AC experienced symptom relief (p = 0.071). Among patients achieving symptom relief, a relatively large proportion of patients with EGJOO had symptom relief after medications (37/67, 55.22%), the resolution of potential reasons (7/67, 10.45%), and spontaneous relief (15/67, 22.39%), while more patients with AC had symptom relief after POEM (66/69, 95.65%). Among EGJOO patients achieving symptom relief, more patients (7/20, 35%) with anatomical EGJOO had symptom relief after the resolution of potential reasons for EGJOO, while more patients (32/47, 68.09%) with functional EGJOO had symptom relief with medications. Conclusions: Concurrent AEG and autoimmune diseases are more likely in EGJOO than in AC. A considerable part of EGJOO may be the early manifestation of an organic disease. Anatomical EGJOO patients experience symptom improvement with the resolution of primary diseases, while most functional EGJOO patients experience symptom relief with pharmacotherapy alone or even without any treatment. Full article

(This article belongs to the Special Issue Functional Gastrointestinal Disorders (FGIDs): Diagnosis and Pathophysiology)

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12 pages, 1062 KiB

Open AccessArticle

Diagnostic Implications of Irritable Bowel Syndrome Is an Independent Risk Factor for Undergoing Surgical Interventions in Patients with Inflammatory Bowel Disease

by Yuhan Fu, Nisheet Waghray, Ronnie Fass and Gengqing Song

Diagnostics 2023, 13(11), 1901; https://doi.org/10.3390/diagnostics13111901 - 29 May 2023

Viewed by 1444

Abstract

Background: Inflammatory bowel disease (IBD) and irritable bowel syndrome (IBS) can present with overlapping symptoms, making diagnosis and management challenging. Patients with IBD in remission may continue to experience IBS symptoms. Patients with IBS were found to have a disproportionately higher prevalence of abdominal and pelvic surgeries than the general population. Aims: The aim of this study was to determine whether IBS is a risk factor for undergoing surgical interventions in patients with IBD and explore the diagnostic implications of these findings. Methods: A population-based cohort analysis was performed using TriNetX. Patients with Crohn’s disease + IBS (CD + IBS) and ulcerative colitis + IBS (UC + IBS) were identified. The control groups consisted of patients with CD or UC alone without IBS. The main outcome was to compare the risks of undergoing surgical interventions between the cohorts. The secondary outcomes were to compare the risks of developing gastrointestinal symptoms and IBD-related complications between the cohorts. Results: Patients with IBD who subsequently developed IBS were more likely to experience gastrointestinal symptoms than those without IBS (p < 0.0001). Patients with concomitant IBD and IBS were more likely to develop IBD-related complications, including perforation of the intestine, gastrointestinal bleeding, colon cancer, and abdominal abscess (p < 0.05). Patients with concomitant IBD and IBS were more likely to undergo surgical interventions than patients without IBS, including colectomy, appendectomy, cholecystectomy, exploratory laparotomy, and hysterectomy (p < 0.05). Conclusions: IBS appears to be an independent risk factor for patients with IBD to develop IBD-related complications and undergo surgical interventions. Patients with concomitant IBD and IBS could represent a unique subgroup of IBD patients with more severe symptoms, highlighting the importance of accurate diagnosis and management in this population. Full article

(This article belongs to the Special Issue Functional Gastrointestinal Disorders (FGIDs): Diagnosis and Pathophysiology)

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14 pages, 1511 KiB

Open AccessArticle

Clinical Characteristics of Adult Functional Constipation Patients with Rectoanal Areflexia and Their Response to Biofeedback Therapy

by Fei Li, Meifeng Wang, Syed Hameed Ali Shah, Ya Jiang, Lin Lin, Ting Yu and Yurong Tang

Diagnostics 2023, 13(2), 255; https://doi.org/10.3390/diagnostics13020255 - 10 Jan 2023

Cited by 1 | Viewed by 2121

Abstract

Background: The London Classification for anorectal physiological dysfunction specifically proposes rectoanal areflexia (RA), which means the absence of a rectoanal inhibitory reflex (RAIR) based on a manometric diagnosis. Although RA is not observed in healthy people, it can be found in adult patients with functional constipation (FC). This study describes the clinical manifestations of adult patients with FC and RA and their response to biofeedback therapy (BFT). Methods: This retrospective study reviewed the reports of high-resolution anorectal manometry (HR-ARM) and the efficacy of BFT in adult patients with FC. In addition, the Constipation Scoring System (CSS) scale, Patient Assessment of Constipation Symptoms (PAC-SYM) scale, Patient Assessment of Constipation Quality of Life (PAC-QOL) scale, Zung’s Self-Rating Anxiety Scale (SAS), Zung’s Self-Rating Depression Scale (SDS), balloon expulsion test (BET), and the use of laxatives were assessed. Results: A total of 257 adult patients diagnosed with FC were divided into the RA group (n = 89) and the RAIR group (n = 168). In the RA and RAIR groups, 60 (67.4%) and 117 (69.6%) patients, respectively, had dyssynergic defecation (DD) during simulated defecation. Type II pattern of dyssynergia was most frequently observed in both groups. Compared with the RA group, the RAIR group showed a higher CSS score, physical discomfort score, and prevalence of inadequate relaxation of the anal sphincter (p < 0.001, p = 0.036, and p = 0.017, respectively). The anxiety and depression scores were not different between the two groups. The proportion of patients using volumetric and stimulant laxatives and their combination was significantly higher in FC patients with RA, whereas the efficacy of BFT was significantly lower (p = 0.005, p < 0.001, p = 0.045, and p = 0.010, respectively). Conclusion: Adult FC patients with RA may suffer more severe constipation and have a lower efficacy of BFT compared with those with RAIR. Full article

(This article belongs to the Special Issue Functional Gastrointestinal Disorders (FGIDs): Diagnosis and Pathophysiology)

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Review

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16 pages, 1798 KiB

Open AccessReview

Diagnosis of Laryngopharyngeal Reflux: Past, Present, and Future—A Mini-Review

by Han-Chung Lien, Ping-Huan Lee and Chen-Chi Wang

Diagnostics 2023, 13(9), 1643; https://doi.org/10.3390/diagnostics13091643 - 07 May 2023

Cited by 4 | Viewed by 3333

Abstract

Laryngopharyngeal reflux (LPR) is a variant of gastroesophageal reflux disease (GERD) in which gastric refluxate irritates the lining of the aerodigestive tract and causes troublesome airway symptoms or complications. LPR is a prevalent disease that creates a significant socioeconomic burden due to its negative impact on quality of life, tremendous medical expense, and possible cancer risk. Although treatment modalities are similar between LPR and GERD, the diagnosis of LPR is more challenging than GERD due to its non-specific symptoms/signs. Due to the lack of pathognomonic features of endoscopy, mounting evidence focused on physiological diagnostic testing. Two decades ago, a dual pH probe was considered the gold standard for detecting pharyngeal acidic reflux episodes. Despite an association with LPR, the dual pH was unable to predict the treatment response in clinical practice, presumably due to frequently encountered artifacts. Currently, hypopharygneal multichannel intraluminal impedance-pH catheters incorporating two trans-upper esophageal sphincter impedance sensors enable to differentiate pharyngeal refluxes from swallows. The validation of pharyngeal acid reflux episodes that are relevant to anti-reflux treatment is, therefore, crucial. Given no diagnostic gold standard of LPR, this review article aimed to discuss the evolution of objective diagnostic testing and its predictive role of treatment response. Full article

(This article belongs to the Special Issue Functional Gastrointestinal Disorders (FGIDs): Diagnosis and Pathophysiology)

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13 pages, 286 KiB

Open AccessReview

Application of Artificial Intelligence in Measuring Novel pH-Impedance Metrics for Optimal Diagnosis of GERD

by Ming-Wun Wong, Benjamin D. Rogers, Min-Xiang Liu, Wei-Yi Lei, Tso-Tsai Liu, Chih-Hsun Yi, Jui-Sheng Hung, Shu-Wei Liang, Chiu-Wang Tseng, Jen-Hung Wang, Ping-An Wu and Chien-Lin Chen

Diagnostics 2023, 13(5), 960; https://doi.org/10.3390/diagnostics13050960 - 03 Mar 2023

Cited by 1 | Viewed by 1494

Abstract

Novel metrics extracted from pH-impedance monitoring can augment the diagnosis of gastroesophageal reflux disease (GERD). Artificial intelligence (AI) is being widely used to improve the diagnostic capabilities of various diseases. In this review, we update the current literature regarding applications of artificial intelligence in measuring novel pH-impedance metrics. AI demonstrates high performance in the measurement of impedance metrics, including numbers of reflux episodes and post-reflux swallow-induced peristaltic wave index and, furthermore, extracts baseline impedance from the entire pH-impedance study. AI is expected to play a reliable role in facilitating measuring novel impedance metrics in patients with GERD in the near future. Full article

(This article belongs to the Special Issue Functional Gastrointestinal Disorders (FGIDs): Diagnosis and Pathophysiology)

16 pages, 610 KiB

Open AccessReview

Diagnostic Methods for Evaluation of Gastric Motility—A Mini Review

by Yan Wang, Jiande D. Z. Chen and Borko Nojkov

Diagnostics 2023, 13(4), 803; https://doi.org/10.3390/diagnostics13040803 - 20 Feb 2023

Cited by 4 | Viewed by 3305

Abstract

Gastric motility abnormalities are common in patients with disorders of gut-brain interaction, such as functional dyspepsia and gastroparesis. Accurate assessment of the gastric motility in these common disorders can help understand the underlying pathophysiology and guide effective treatment. A variety of clinically applicable diagnostic methods have been developed to objectively evaluate the presence of gastric dysmotility, including tests of gastric accommodation, antroduodenal motility, gastric emptying, and gastric myoelectrical activity. The aim of this mini review is to summarize the advances in clinically available diagnostic methods for evaluation of gastric motility and describe the advantages and disadvantages of each test. Full article

(This article belongs to the Special Issue Functional Gastrointestinal Disorders (FGIDs): Diagnosis and Pathophysiology)

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22 pages, 3822 KiB

Open AccessReview

Electrophysiology as a Tool to Decipher the Network Mechanism of Visceral Pain in Functional Gastrointestinal Disorders

by Md Jahangir Alam and Jiande D. Z. Chen

Diagnostics 2023, 13(4), 627; https://doi.org/10.3390/diagnostics13040627 - 08 Feb 2023

Cited by 2 | Viewed by 1816

Abstract

Abdominal pain, including visceral pain, is prevalent in functional gastrointestinal (GI) disorders (FGIDs), affecting the overall quality of a patient’s life. Neural circuits in the brain encode, store, and transfer pain information across brain regions. Ascending pain signals actively shape brain dynamics; in turn, the descending system responds to the pain through neuronal inhibition. Pain processing mechanisms in patients are currently mainly studied with neuroimaging techniques; however, these techniques have a relatively poor temporal resolution. A high temporal resolution method is warranted to decode the dynamics of the pain processing mechanisms. Here, we reviewed crucial brain regions that exhibited pain-modulatory effects in an ascending and descending manner. Moreover, we discussed a uniquely well-suited method, namely extracellular electrophysiology, that captures natural language from the brain with high spatiotemporal resolution. This approach allows parallel recording of large populations of neurons in interconnected brain areas and permits the monitoring of neuronal firing patterns and comparative characterization of the brain oscillations. In addition, we discussed the contribution of these oscillations to pain states. In summary, using innovative, state-of-the-art methods, the large-scale recordings of multiple neurons will guide us to better understanding of pain mechanisms in FGIDs. Full article

(This article belongs to the Special Issue Functional Gastrointestinal Disorders (FGIDs): Diagnosis and Pathophysiology)

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Other

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38 pages, 766 KiB

Open AccessSystematic Review

Roles of Heart Rate Variability in Assessing Autonomic Nervous System in Functional Gastrointestinal Disorders: A Systematic Review

by M. Khawar Ali and Jiande D. Z. Chen

Diagnostics 2023, 13(2), 293; https://doi.org/10.3390/diagnostics13020293 - 12 Jan 2023

Cited by 10 | Viewed by 3951

Abstract

Functional gastrointestinal disorders (FGID) and gastroesophageal reflux (GERD) disease affect a large global population and incur substantial health care costs. Impairment in gut-brain communication is one of the main causes of these disorders. The central nervous system (CNS) provides its inputs to the enteric nervous system (ENS) by modulating the autonomic nervous system (ANS) to control the gastrointestinal functions. Therefore, GERD and FGID’s might be associated with autonomic dysfunction, which can be identified via heart rate variability (HRV). FGIDs may be treated by restoring the autonomic dysfunction via neuromodulation. This article reviews the roles of HRV in the assessment of autonomic function and dysfunction in (i) gastroesophageal reflux (GERD), and the following FGIDs: (ii) functional dyspepsia (FD) and gastroparesis, (iii) irritable bowel syndrome (IBS) and (iv) constipation. The roles of HRV in the assessment of autonomic responses to various interventions were also reviewed. We used PUBMED, Web of Science, Elsevier/Science direct and Scopus to search the eligible studies for each disorder, which also included the keyword ‘heart rate variability’. The retrieved studies were screened and filtered to identify the most suitable studies using HRV parameters to associate the autonomic function with any of the above disorders. Studies involving both human and animal models were included. Based on analyses of HRV, GERD as well as the FGIDs were found to be associated with decreased parasympathetic activity and increased sympathetic nervous system activity with the autonomic balance shifted towards the sympathetic nervous system. In addition, the HRV methods were also reported to be able to assess the autonomic responses to various interventions (mostly neuromodulation), typically the enhancement of parasympathetic activity. In summary, GERD and FGIDs are associated with impaired autonomic dysfunction, mainly due to suppressed vagal and overactive sympathetic tone, which can be assessed noninvasively using HRV. Full article

(This article belongs to the Special Issue Functional Gastrointestinal Disorders (FGIDs): Diagnosis and Pathophysiology)

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