Introduction

Dysphagia is a common and alarming symptom, which harbours the risk of organic diseases. Its incidence is increasing in the last decades worldwide, both in the young and elderly population. However, epidemiological and clinical data related to dysphagia patients are lacking. Thus, we aimed to provide an updated analysis of the main underlying causes of dysphagia in outpatient clinic.

Aims & Methods

We retrospectively evaluated consecutive patients referred from June 2022 to December 2022 to our outpatient clinic, suffering from incident dysphagia as the main symptom at the index visit. Patients already previously evaluated were excluded. After clinical evaluation, all the subjects underwent esophago-gastro-duodenal endoscopy (EGDS) as the first diagnostic exam, during which, up to clinical suspect and endoscopist evaluation, biopsies of the oesophagus and/or cardias were made. According to clinician assessment, execution of high-resolution manometry (HRM) was also performed.

Results

During the study period 700 first outpatient visits were performed. A total of 78 patients met the inclusion criteria and were then involved in the study. Esophageal dysphagia was the most frequently reported symptom (65/78, 83.3%), followed by oropharyngeal dysphagia (8/78, 10.3%) and mixed dysphagia (5/78, 6.4%). The most common concomitant symptoms were chest pain (40/78, 51.3%), regurgitation (34/78, 43.6%), heartburn (20/78, 25.6%), weight loss (19/78, 24.3%) and cough (14/78, 17.9%). Median age was 57.0, with M/F ratio of 33/78 (42.3%). Endoscopy showed abnormal features in 25/78 (32.1%), with the most common finding being erosive esophagitis (5/25, 20%). Seven out of 25 (28%) subjects had at least one non-specific finding among those associated with eosinophilic esophagitis (edema, rings, exudate, furrowing, strictures). The physician performed biopsies of the esophagus and/or cardias in 52/78 (66.6%) cases, and 28 patients had histologic abnormal findings. The most common histological diagnosis was eosinophilic esophagitis (EoE) which was identified in 12 patients, 5/12 (41.7%) without mucosal evidence of EoE. HRM was performed in 22/30 patients (73.3%) after negative endoscopy and/or histology, with abnormal findings in 17/22 (77.3%) of the tests. In this setting achalasia was the most common diagnosis (5/22, 22.7%), one patient with Type I, two with Type II and two patients with Type III.
Overall, the most common diagnosis in our cohort was EoE (12/78, 15.4%), followed by achalasia (7/78, 9.0%).

Conclusion

Among patients complaining of dysphagia referred to an outpatient gastroenterology clinic, EoE is the main underlying cause of such condition. Given its high frequency, biopsies should be always performed in patients with dysphagia, regardless of endoscopic findings.

Introduction

Inflammatory bowel disease (IBD) is a chronic condition of the gastrointestinal tract. Around 20% of patients develop at least one extraintestinal manifestation, the most frequent being articular, followed by cutaneous, ocular and hepatobiliary. Among those involving the skin, erythema nodosum (EN) and pyoderma gangrenosum (PG) are frequently observed.

Aims & Methods

Our aim was to describe the characteristics of PG and EN in both ulcerative colitis (UC) and Crohn’s disease (CD), and provide a detailed description of their treatment, prognosis and their impact on IBD management. This was a retrospective, multicenter study including all patients with a diagnosis of EN or PG between January 2013 and February 2023. Patients were identified from the ENEIDA registry, a prospectively-maintained database supported by GETECCU. Demographic and clinical characteristics (subtype, date of diagnosis, number of cutaneous lesions, distribution, and location), along with therapeutic requirements and prognosis were registered. Descriptive statistics were used, followed by non-parametric comparisons by chi-square tests.

Results

A total of 542 patients (401 with EN and 141 with PG) fulfilled the inclusion criteria among 52,555 IBD patients included in the ENEIDA registry at the time of data extraction.
EN was predominantly observed in women (77%), with a mean age of 47 years (SD 15) and CD (76%). It was mostly located in the lower limbs (97%), followed by upper limbs (9%); lesions were frequently multiple (75%) and bilateral (65%). EN modified the management of IBD in 18% of cases. Steroids were the most frequently used drugs (73% oral, 17% topical, 13% iv); 18% of patients were treated with biologicals, mostly anti-TNF agents. After 8 weeks of diagnosis, partial response was observed in 19% of patients, and remission in 77%. Recurrence rate of EN was 21%, with 60% of patients developing multiple episodes.
PG was mainly seen in women (60%), with a mean age 52 years (SD 14) and UC (52%). It was usually located in the lower limbs (75%), but it was also observed in arms, thorax or periostomal (12-13%). The most common type was classic (77%), followed by pustular (19%). Multiple lesions were observed in 56% of patients and unilateral distribution in 62%. PG modified the management of IBD in 29% of cases. Oral steroids were commonly used (54%), followed by biological agents (38%), oral antibiotics (27%), and cyclosporin (18%). PG modified the management of IBD in 29% of cases. After 8 weeks of diagnosis, 49% of patients showed partial response and 43% achieved complete remission. Recurrence rate of PG was 21%, with 55% of them developing multiple episodes.

Conclusion

Up to 1% of patients in the ENEIDA registry developed EN and/or PG. They are usually located in the lower limbs and with multiple lesions. Steroids are the mainstay of their treatment, being anti-TNF the main biological agents. These cutaneous manifestations modify the clinical management of IBD in 21% of cases. Clinical remission rates are higher in EN than in PG, although recurrence occurs in one fifth of patients.

Clinical Case Summary

Background: Endometriosis affects 18% of women worldwide¹, typically presenting with infertility, dyspareunia & dysmenorrhea. However, diagnosis can be delayed due to confusing GI symptoms² or other non gastro symptoms . Four cases are presented here where patients experienced cyclical symptoms of sciatica, vomiting, or abdominal pain, had no associated red flag symptoms or changes in bowel habits, normal blood and urine workups, unremarkable lower and upper endoscopies and resolved after starting Dienogest 2mg daily.
Method: Case Report of four clinical presentations in the GI clinic with atypical symptoms unresponsive to standard treatment necessitate exhaustive investigations, leading to the diagnosis of extra pelvic endometriosis - a not uncommon yet frequently overlooked condition.
Case 1: A 40-year-old woman with severe lower back and hip pain, initially thought to be sciatica, underwent unsuccessful discectomy. Later, endometriosis was diagnosed after laparoscopic appendectomy revealed endometrial implants. Treatment with Dionogest resolved her symptoms.
Case 2: A 14-year-old girl experienced severe dysmenorrhea, vomiting, and epigastric pain, not relieved by standard medications. Gastroscopy during menstruation showed bluish spots in the gastric mucosa, leading to a diagnosis of endometriosis after MRI confirmed a chocolate cyst.
Case 3: A 36-year-old woman with unexplained infertility and severe dyspareunia for many years failed multiple IVF trials was diagnosed with endometriosis after a CT scan showed abnormalities. IVF treatment was successful on the first attempt.
Case 4: A 35-year-old woman with chronic abdominal pain, previously misdiagnosed as IBS, was found to have adenomyosis after MRI revealed a chocolate cyst and other signs during menstruation.
Conclusion: Thorough histories should be taken and importance given to patients’ description of symptoms to ensure no key hints are missed, excluded, or confused for other entities.

References

Moradi Y, & others. A systematic review on the prevalence of endometriosis in women. Indian Journal of Medical Research. 2021 Sep 1;154(3):446-54.
Horne AW, Missmer SA.Pathophysiology, diagnosis, and management of endometriosis. bmj. 2022 Nov 14;379.
Ek M, & others. Gastrointestinal symptoms among endometriosis patients A case-cohort study. BMC women's health. 2015 Dec;15(1):1-0.
Ek M, Roth B. Gastrointestinal symptoms in women with endometriosis and microscopic colitis in comparison to irritable bowel syndrome: A cross-sectional study. The Turkish Journal of Gastroenterology. 2021 Oct;32(10):819.
Reddy YP & others. Abdominal pain–a common presentation with unusual diagnosis: a case report. Journal of Community Hospital Internal Medicine Perspectives. 2020 Nov 1;10(6):604-8.
Torkelson SJ. Endometriosis of the sciatic nerve: a report of two cases and a review of the literature. Obstetrics & Gynecology. 1988 Mar 1;71
Mannan K & others. Cyclical sciatica: endometriosis of the sciatic nerve. The Journal of Bone and Joint Surgery.British volume. 2008 Jan;90(1):98-101.
Jelk W, Estape R. Cyclic sciatica and extrauterine endometriosis. Praxis. 1995 Nov 1;84(46):1349-55.
Dognon L & others. Catamenial sciatic pain due to endometriosis of the sciatic nerve.
Uppal J. Cyclic sciatica and back pain responds to treatment of underlying endometriosis: case illustration.World Neurosurgery. 2017 Jan 1;97:760-e1.

Introduction

Colorectal premalignant polyps and hemorrhoids are important findings in colonoscopy; however, the association between them is unclear. Therefore, we investigated the association between the presence and severity of hemorrhoids and the detection of precancerous colorectal polyps on colonoscopy.

Aims & Methods

This retrospective, single-center, cross-sectional study enrolled patients who underwent colonoscopy at Toyoshima Endoscopy Clinic between May 2017 and October 2020. Anorectal mucosal elevations with dilated veins were defined as hemorrhoids. Hemorrhoids were examined in the retroflexed view during colonoscopy. Hemorrhoids with mucosal elevation ≥10 mm were diagnosed as severe hemorrhoids. All polyps suspected to be cancers, adenomas, or clinically significant serrated polyps were excised or biopsied during colonoscopy. The association between hemorrhoids and other outcomes (patient age, sex, withdrawal time for colonoscopy, expert endoscopist, number of adenomas per colonoscopy, detection rates of adenoma, advanced neoplasia, clinically significant serrated polyp, and sessile serrated lesion) was assessed using a binomial logistic regression model. This study was approved by the Certificated Review Board, Yoyogi Mental Clinic on July 16, 2021 (approval no. RKK227).

Results

A total of 12,408 patients were enrolled in this study. Hemorrhoids were identified in 1,863 patients. The mean age was 53.9 years and female sex accounted for 50.5%. Expert endoscopists performed 68.3% of the colonoscopies. Mild and severe hemorrhoids are found in 1,735 and 128 patients, respectively. Number of adenomas per colonoscopy was 0.821. Detection rates of adenoma, advanced neoplasia, clinically significant serrated polyp, and sessile serrated lesion were 44.9%, 2.68%, 8.89%, and 3.47%, respectively. Univariable analysis showed that patients with hemorrhoids were older (61.0 vs. 52.5 years, P < 0.001), had a higher number of adenomas per colonoscopy (1.16 vs. 0.756, P < 0.001), and had a higher adenoma detection rate (56.4% vs. 42.7%, P < 0.001) than those without hemorrhoids. Multivariable analyses also demonstrated that hemorrhoids were associated with a higher number of adenomas per colonoscopy (odds ratio [OR]: 1.061, 95% confidence interval [CI]: 1.022-1.101, P = 0.002) and a high adenoma detection rate (OR: 1.152, 95% CI: 1.035-1.282, P = 0.010), regardless of patient age, sex, and expert endoscopist. Next, we performed a subgroup analysis that was limited to the expert endoscopists. Multivariable analysis showed that the presence of hemorrhoids was independently associated with a high number of adenomas per colonoscopy (OR: 1.066, 95% CI: 1.024-1.109) regardless of patient age and sex. Among patients with hemorrhoids, severe hemorrhoids were associated with a higher number of adenomas per colonoscopy than mild hemorrhoids (OR: 1.120, 95% CI: 1.003-1.250), regardless of patient age, sex, and expert endoscopist.

Conclusion

Hemorrhoids, especially severe ones, are associated with a high number of adenomas. Complete colonoscopy should be performed in patients with hemorrhoids.

Disclosure

There is no conflict of interest for this study.

Introduction

Heartburn is the most common symptom leading to gastroenterology referral. The Lyon 2.0 consensus advocates up-front OFF-PPI ambulatory pH testing in unproven GERD when erosive esophagitis is absent, followed by ON-PPI pH-impedance testing when PPI therapy fails in proven GERD. Due to cost concerns with routine diagnostic testing and since wireless pH testing is not widely available in parts of the world, most patients receive rotating, prolonged courses of PPIs for persistent symptoms. We performed an economic analysis to compare evaluation/management strategies for heartburn in routine practice.

Aims & Methods

We developed a Markov model to compare routine care strategies for patients with heartburn and no alarm features: (1) Reassurance alone; (2) EGD with PPI optimization; (3) EGD with a PPI discontinuation trial when erosive esophagitis is absent; EGD with OFF-PPI (4) wireless pH testing or (5) pH-impedance testing to phenotype care based on physiology; (6) EGD with OFF-PPI wireless pH testing followed by ON-PPI pH-impedance testing when needed following Lyon 2.0. Definitions to interpret diagnostic tests and treatment recommendations were extracted from practice guidelines. Model inputs were extracted from appropriate US cost databases and from systematic reviews, clinical trials, and national observational studies that considered diagnostics and clinical outcomes. We used a one-year time horizon and a willingness-to-pay threshold of $100,000/quality-adjusted-life-year (QALY) gained.

Results

Reassurance alone (Strategy 1) cost $3,936/year to insurers due to repeated diagnostics and visits, and $2,976/year to patients due to out-of-pocket expenses and impaired work productivity. EGD with a trial of PPI optimization (Strategy 2) or discontinuation (Strategy 3) was more expensive and less effective than strategies that involved up-front pH testing, because EGD-only strategies exclude erosive esophagitis but do not optimize treatment. Up-front wireless pH (Strategy 4) or pH-impedance (Strategy 5) monitoring defining GERD were similarly cost-effective. The most cost-effective strategy was to follow Lyon 2.0 (Strategy 6), resulting in $2,542 annual savings to patients, $2,311 annual savings to insurers, and health gains of +0.07 QALY or 23 more healthy days per year. Findings were similar from insurer and patient perspectives.

TABLE: Cost-effectiveness of routine strategies to manage heartburn in general gastroenterology from insurer and patient perspectives. Strategies 1-5 are updated from our previous report (doi 10.1016/j.cgh.2023.08.026) to reflect availability of Lyon 2.0.

Conclusion

By matching patients to the appropriate therapeutic targets based on diagnostics and PPI response, Lyon 2.0 optimizes the cost-effective care pathway for heartburn in general gastroenterology. Since wireless pH and pH-impedance monitoring are equivalent strategies, availability of technique and local expertise should dictate choice for evaluation of heartburn. Our findings advocate the need for access to, coverage for, and usage of diagnostic testing and broad adoption of the Lyon 2.0 consensus.

Disclosure

EDS consults for Ardelyx, Laborie, Mahana, Mylan, Neuraxis, Salix, Sanofi, and Takeda.

Clinical Case Summary

A 20-year-old female patient with a history of chronic constipation and incontinence was referred to adult gastroenterology clinic. She had anorectal pain while passing stools since childhood. She also complained of bowel incontinence, bloating, nausea, and odynophagia. Physical examination revealed tenderness in the anorectal canal and solid sA 19-year-old female patient with a history of chronic constipation and incontinence was referred to adult gastroenterology clinic. She had experienced intense anorectal pain while passing stools since childhood. She also suffered from bowel incontinence, regular bloating, nausea, and odynophagia. She needs frequent hospitalizations for fecal disimpaction. Physical examination revealed tenderness in the anorectal canal and solid stool in the rectum. Her laboratory tests were normal. A colon transit marker study indicated slow transit, and a colonoscopy revealed a fecaloma in the rectum. Anorectal manometry showed impaired rectal sensation with perianal hypersensitivity and a preserved recto-anal inhibitory reflex. She had both dyssynergic defecation and slow transit constipation. (1)
On further examination, we noted her smartwatch was recording recurrent high heart rates and she also complained of symptoms suggestive of autonomic neuropathy and dysautonomia, such as postural tachycardia and heat/cold intolerance. She was referred to a neurologist and a rheumatologist for further evaluation. She was eventually diagnosed with Postural Orthostatic Tachycardia Syndrome (POTS) and Small Fibre Neuropathy (SFN)(2,3,4). POTS patients commonly experience gastrointestinal symptoms due to autonomic dysfunction, with studies reporting altered GI motility and gastric emptying.(5)
In conclusion, this case underscores the need for healthcare providers to remain vigilant in recognizing atypical features of constipation, which may reveal underlying pathologies requiring further investigation and treatment.

References

1 Camilleri M, Ford AC, Mawe GM, Dinning PG, Rao SS, Chey WD, Simrén M, Lembo A, Young-Fadok TM, Chang L. Chronic constipation. Nat Rev Dis Primers. 2017 Dec 14;3:17095. doi: 10.1038/nrdp.2017.95. PMID: 29239347.
2 Fedorowski A. Postural orthostatic tachycardia syndrome: clinical presentation, aetiology and management. J Intern Med. 2019 Apr;285(4):352-366. doi: 10.1111/joim.12852. Epub 2018 Nov 23. PMID: 30372565.
3 Mathias CJ, Owens A, Iodice V, Hakim A. Dysautonomia in the Ehlers-Danlos syndromes and hypermobility spectrum disorders-With a focus on the postural tachycardia syndrome. Am J Med Genet C Semin Med Genet. 2021 Dec;187(4):510-519. doi: 10.1002/ajmg.c.31951. Epub 2021 Nov 12. PMID: 34766441.
4 Finsterer, Josef, and Fulvio A Scorza. “Small fiber neuropathy.” Acta neurologica Scandinavica vol. 145,5 (2022): 493-503. doi:10.1111/ane.13591
5 Mehr SE, Barbul A, Shibao CA. Gastrointestinal symptoms in postural tachycardia syndrome: a systematic review. Clin Auton Res. 2018 Aug;28(4):411-421. doi: 10.1007/s10286-018-0519-x. Epub 2018 Mar 16. PMID: 29549458; PMCID: PMC6314490.

Disclosure

Nothing to disclose

Introduction

High-definition anorectal manometry (HD-ARM), balloon expulsion test (BET) and magnetic resonance defecography (MR-defecography) are important tools in studying constipation.

Aims & Methods

Evaluate the prevalence of functional defecation disorders and structural anorectal alterations in patients with constipation and compare the findings of HD-ARM and BET with MR-defecography.
Retrospective cohort study including patients with functional constipation (FC) or irritable bowel syndrome with constipation (IBS-C) submitted to HD-ARM, BET and MR-defecography. Patients were divided into three groups: 1) normal anorectal evacuation pattern in HD-ARM and BET; 2) abnormal anorectal evacuation pattern and BET; 3) normal anorectal evacuation pattern and abnormal BET, or abnormal anorectal evacuation pattern and normal BET.

Results

A total of 64 patients were included, 49 with FC (76.6%) and 15 with IBS-C (23.4%). There were 20 patients in group 1 (31.3%), 11 in group 2 (17.2%) and 33 in group 3 (51.5%). In MR-defecography, 47 patients had relevant structural anorectal alterations (73.4%) and 15 had an abnormal contraction of the puborectalis during the defecatory maneuver (23.4%).
Nineteen patients were diagnosed with dyssynergic defecation (29.7%). These patients had significantly higher residual anal pressure and lower percentage of anal relaxation during defecation (109.6±43.2 vs 85.8±29.7 mmHg, p=0.038 and 9% vs 24%, p=0.018, respectively), as well as a lower differential of rectoanal pressure (-32.2±31.4 vs 3.0±29.6 mmHg, p<0.001).
Patients with structural anorectal alterations had a significantly higher body mass index (BMI) (27.4±4.5 vs 23.5±3.3, p=0.002), and all obese patients had structural alterations.
Comparing the findings of HD-ARM and BET with MR-defecography: in group 1, 15 patients had structural alterations (75.0%); in group 2, 8 patients had structural alterations (72.7%); in group 3, 22 patients only had structural alterations (66.7%), 6 only had dyssynergic defecation (18.2%), 2 patients had both (6.0%) and 3 did not have any findings (9.1%). In 24.2% of patients with inconclusive findings in HD-ARM and BET, MR-defecography allowed the diagnosis of dyssynergic defecation.

Conclusion

Patients with structural anorectal alterations had a significantly higher BMI. Almost three quarters of patients with FC and IBS-C had relevant structural anorectal alterations and one third had dyssynergic defecation. Therefore, it is important to combine MR-defecography with HD-ARM and BET in the study of constipation.