Introduction:PSTPIP1-associated myeloid-related proteinemia inflammatory (PAMI) syndrome is a rare autoinflammatory disorder. Systemic inflammation, cytopenia, and skin lesions are classic features, accompanied by hypercalprotectinemia and hyperzincemia. Gastrointestinal manifestations such as colitis are infrequent. We present the first case in Thailand of PAMI syndrome presenting as refractory colitis. Case Presentation:A 23-year-old male presenting with adult-onset refractory colitis and a history of a teenage perianal abscess. Despite the relatively late onset of intestinal symptoms, the patient exhibited a complex clinical picture across multiple domains of inborn errors of immunity, including autoimmune hemolytic anemia, chronic neutropenia, hepatosplenomegaly, and severe cystic acne. Genetic testing revealed a PSTPIP1 mutation (E250K variant), and laboratory results showed pathognomonic hyperzincemia, confirming PAMI syndrome. Treatment with adalimumab led to significant clinical and endoscopic remission. Conclusion:PAMI syndrome should be considered a differential diagnosis in patients with atypical or refractory colitis, particularly when accompanied by systemic clues such as cytopenia, severe acne, or organomegaly. Serum zinc levels serve as a simple, cost-effective screening tool to facilitate prompt diagnosis and can function as a practical biomarker for monitoring the response to therapy.
Introduction:Mesalamine intolerance occurs in 5-10% of patients with ulcerative colitis (UC), while myocarditis is an extremely rare but potentially fatal complication. Optimal UC management after mesalamine-induced myocarditis remains unclear. Case Presentation:A man in his 30s with left-sided UC developed mesalamine-induced myocarditis 3 weeks after treatment initiation, confirmed by elevated troponin T, reduced ejection fraction (23%), and a positive drug-induced lymphocyte stimulation test. Cardiac function improved with corticosteroids; however, UC relapsed during steroid tapering. After multidisciplinary discussion and shared decision-making, upadacitinib was selected considering potential cardiac risk with anti-TNF therapy and the need to minimize corticosteroid exposure. Rapid clinical improvement was observed, and complete mucosal healing (Mayo endoscopic subscore 0) was confirmed at 6-month follow-up colonoscopy. Conclusion:This is the first reported case of UC complicated by mesalamine-induced myocarditis successfully treated with upadacitinib. Janus kinase inhibitors may represent a therapeutic option when conventional biologics are unsuitable in patients with severe mesalamine intolerance.
Background: Eosinophilic esophagitis (EoE) is a chronic, progressive, immune-mediated disease characterized by symptoms of esophageal dysfunction and a dense eosinophilic infiltration of the esophageal mucosa (≥15 eosinophils/high-power field or ≥60 eosinophils/mm2). The diagnosis requires the exclusion of other local or systemic causes of esophageal eosinophilia. EoE is frequently associated with atopic disorders, including asthma, allergic rhinitis, and atopic dermatitis, reflecting its complex immunopathogenesis. Summary: Adults with active EoE may present with a broad spectrum of symptoms, most commonly dysphagia and food impaction, the latter often requiring urgent endoscopic intervention. Endoscopy plays a central role in both the diagnosis and monitoring of EoE. Although endoscopic appearances may vary, characteristic findings include edema, esophageal rings, whitish exudates, linear furrows, and strictures. These features are systematically assessed using the Endoscopic Reference Score (EREFS), which provides a standardized measure of endoscopic disease activity and severity. Recognition of these clinical manifestations and endoscopic abnormalities is essential for accurate diagnosis, disease assessment, and therapeutic management. Key Messages: EoE is a chronic inflammatory esophageal disorder with distinct clinical and endoscopic manifestations. Dysphagia and food impaction are the hallmark symptoms in adults, while endoscopic evaluation remains indispensable for diagnosis and follow-up. The use of standardized scoring systems such as EREFS improves the assessment of disease activity and facilitates consistent monitoring. Early recognition of clinical symptoms and characteristic endoscopic findings is critical for optimizing patient care and preventing long-term complications.
Introduction: Patients with ulcerative proctitis who fail 5-aminosalicylic acid therapy often escalate to systemic immunosuppressants or biologics, which carry significant risks. IcBD-01 is a novel enema combining cannabidiol and sodium propionate, formulated to deliver local anti-inflammatory effects with minimal systemic exposure. This proof-of-concept study assessed the safety, tolerability, and preliminary efficacy of IcBD-01 in patients with mild to moderate ulcerative proctitis. Methods: Fourteen patients unresponsive to ≥3 months of mesalamine were enrolled in a prospective, open-label, single-arm 12-week trial. IcBD-01 was self-administered daily. Disease activity was assessed using the Mayo score, patient-reported outcomes (PROs), endoscopy, histology, and inflammatory markers. Results: Of 14 enrolled patients, 9 completed the study and 10 completed ≥10 weeks of treatment. In the intention-to-treat analysis, 50% met the primary endpoint (≥3-point Mayo score reduction); in the per-protocol analysis, 77% achieved this. Full Mayo scores improved from 6.8 ± 1.7 to 3.0 ± 2.5 (p < 0.0001), and partial scores from 4.9 ± 1.5 to 1.8 ± 2.0 (p < 0.001). Significant improvements were observed in PROs, VAS pain scores, and treatment satisfaction. While histological improvement (Nancy index) was not significant, reductions in ulcerated mucosal length were noted. The treatment was well tolerated, with only mild adverse events and one nontreatment-related SAE. Conclusion: In this open-label, proof-of-concept study, IcBD-01 was well tolerated and associated with clinically meaningful improvements. These hypothesis-generating findings warrant further evaluation in randomized, placebo-controlled trials.
Introduction:Ulcerative colitis is a chronic inflammatory condition of the colon that significantly impairs quality-of-life. While filgotinib (FIL) has shown long-term efficacy in improving disease-specific quality-of-life via Inflammatory Bowel Disease Questionnaire (IBDQ) total scores, its impact on individual bowel/systemic symptoms remains unclear. This post hoc analysis assessed FIL's long-term effects on these symptoms and explored factors associated with sustained remission. Methods:This analysis included 148 patients from SELECTION trial patients who completed induction and maintenance phases, enrolled in SELECTIONLTE, and continued 200-mg FIL (FIL200) without treatment change. Changes from induction baseline in IBDQ total and subscores (bowel/systemic symptoms) were assessed at Week 10, 58, and long-term extension (LTE) Week 96. Remission was defined as IBDQ ≥170 and partial Mayo Clinic Score (pMCS) ≤1 at each timepoint. Results:At Week 10, for patients with vs. without pMCS remission, the mean ± standard deviation change in IBDQ total score was 72.98 ± 39.37 vs. 53.46 ± 31.75, respectively. At Week 58, it was 80.42 ± 34.44 vs. 49.97 ± 38.24 and at LTE Week 96, it was 84.14 ± 35.22 vs. 49.10 ± 28.00, respectively. Overall, bowel and systemic symptom scores were numerically higher in patients with vs. without pMCS remission at Week 10, slightly increased at Week 58, and remained consistent at LTE Week 96. Symptomatic remission at Week 10 and IBDQ remission at LTE Week 96 were associated significantly (odds ratio [95% confidence interval]: 2.288 [1.003-5.216]; p = 0.049). Conclusions:FIL200 improved bowel and systemic symptoms beyond rectal bleeding and stool frequency, enhancing disease-specific quality-of-life. Week 10 symptomatic remission was marginally associated with higher odds of long-term IBDQ remission, suggesting that early symptomatic remission provides clinically relevant information on sustained quality-of-life improvement.
Introduction: Tumor necrosis factor (TNF)-α inhibitors are widely used in the management of inflammatory bowel disease (IBD), yet they can rarely provoke paradoxical immune-mediated complications such as vasculitis. Case Presentation: We describe the case of a 38-year-old man with ileocolonic Crohn’s disease (CD) in remission during infliximab (IFX) maintenance therapy who presented with fever and diarrhea, raising the initial concerns of disease relapse. He subsequently developed severe abdominal pain, melena, and palpable purpura on his lower legs. Laboratory tests revealed elevated serum IgA and D-dimer levels, proteinuria, and microscopic hematuria. Video capsule endoscopy and colonoscopy revealed no active inflammatory lesions in the small or large bowels. However, an upper gastrointestinal (GI) endoscopy revealed multiple sharply circumscribed circular ulcers in the second portion of the duodenum. Histological assessment of biopsy specimens from the skin lesions and the duodenal ulcer base confirmed leukocytoclastic vasculitis. Based on the purpura and renal and GI involvement, IFX-associated IgA vasculitis was diagnosed. Withdrawal of IFX followed by oral prednisolone therapy and transition to ustekinumab led to rapid clinical recovery. Conclusion: This case highlights IgA vasculitis as a critical diagnostic consideration in patients with IBD receiving anti-TNF-α therapy who present with acute abdominal symptoms, especially when GI involvement precedes the appearance of purpura (“herald enteritis”). Biopsy of the duodenal ulcer base may provide decisive clues for differentiating vasculitis from CD relapse, thereby preventing inappropriate intensification of CD treatment.
Introduction:The incidence and prevalence of inflammatory bowel disease (IBD) are increasing in South Asia, including Pakistan. Biologic therapies have transformed IBD management; however, physician confidence in initiating these therapies and real-world prescribing patterns remain variable. Methods:A cross-sectional survey was conducted among physicians involved in IBD care across Pakistan using an online questionnaire. A total of 100 physicians were invited to participate; 99 respondents with complete data were included in the analysis. The survey assessed demographics, training background, practice setting, therapeutic preferences, physician-reported confidence in initiating biologic therapy, and perceived barriers. Descriptive statistics and comparative analyses were performed. Results:Most respondents were male (83.8%), with the largest age group being 35-44 years (43.4%). Most participants had completed formal gastroenterology training (87.9%), with 17.2% reporting overseas training. Overseas training was significantly associated with greater confidence in initiating biologic therapy for UC induction (p = 0.013) and CD induction (p = 0.010). Confidence with therapy strongly corresponded with early advanced therapeutic strategies, including upfront anti-TNF and oral targeted therapy use in both UC and CD (all p < 0.05). Male physicians were more comfortable with CD maintenance therapy (p = 0.036). Conclusion:Physician confidence in initiating biologic therapy for IBD in Pakistan is associated with training exposure and therapeutic approach. Addressing barriers such as infection screening, cost, and access, along with strengthening IBD-focused training programs, may support more consistent and guideline-concordant care.
Introduction:IL-23p19 inhibitors have emerged as therapeutic options for moderate-to-severe ulcerative colitis (UC), but real-world data describing their early clinical use remain limited. Methods:We conducted a single-center retrospective study of consecutive adults with moderate-to-severe UC who initiated mirikizumab (MIR) (n = 10), risankizumab (RIS) (n = 15), or guselkumab (GUS) (n = 15) between January 2024 and March 2026. Clinical Activity Index (CAI), clinical response, clinical remission, leucine-rich alpha-2 glycoprotein (LRG), and adverse events were assessed over 12 weeks. Results:The cohort was predominantly treatment-refractory, with prior exposure to biologics or Janus kinase inhibitors in 67-100% of patients. Median CAI decreased from 5.5 to 3.5 with MIR, from 8 to 3 with RIS, and from 7 to 3 with GUS by week 12. Week 12 clinical remission rates were 40%, 67%, and 67%, respectively. Median LRG levels decreased from 15.9 to 14.5 μg/mL, from 13.2 to 10.0 μg/mL, and from 14.4 to 11.1 μg/mL, respectively. Three patients discontinued therapy because of primary non-response: two treated with MIR and one treated with RIS. No serious adverse events occurred. Conclusion:This 40-patient real-world cohort suggests short-term clinical and biochemical improvement after initiation of IL-23p19 inhibitors in refractory UC, with no serious adverse events observed during the 12-week observation period. These findings should be interpreted as preliminary and hypothesis-generating, and larger prospective studies are warranted to clarify long-term outcomes.
Introduction:Leucine-rich alpha-2 glycoprotein (LRG) is a novel serum biomarker that correlates with clinical activity of inflammatory bowel disease. It remains unclear whether LRG can predict treatment efficacy in Crohn's disease (CD). The aim of this study was to clarify the appropriate LRG cut-off value for predicting clinical remission of CD and whether pretreatment levels of LRG were associated with 52-week treatment persistence in patients treated with anti-tumor necrosis factor (anti-TNF) agents or ustekinumab. Methods:We retrospectively analyzed correlations between LRG and CRP levels and clinical activity (Crohn's disease activity index [CDAI]). The rates of drug persistence at 52 weeks from the start of treatment were compared between the ustekinumab group and the anti-TNF agent group. Results:The correlation between CDAI and LRG was statistically significant (r = 0.81, p < 0.01, respectively). The LRG cut-off value for predicting clinical remission was 15.3 µg/mL for the CDAI of <150 (AUC 0.90226, 95% CI: 0.815-0.989). There was a significant difference in drug continuance rate at 52 weeks between the anti-TNF agent group and ustekinumab group (100% [17/17] vs. 73.3% [11/15], respectively, p = 0.02). There was also a trend towards a lower LRG in the continuation group than in the discontinuation group in patients treated by ustekinumab. Conclusions:The LRG cut-off value for predicting clinical remission was 15.3 µg/mL for the CDAI of <150. Pretreatment levels of LRG may be a candidate marker for the prediction of efficacy in the use of ustekinumab.
Introduction: Endoscopic control of inflammation is a key treatment goal in Crohn’s disease. However, real-world endoscopic outcomes of risankizumab assessed by paired balloon-assisted enteroscopy (BAE) remain limited. We examined endoscopic outcomes at the visit closest to week 52 after risankizumab initiation using paired BAE. Methods: We retrospectively studied adults with Crohn’s disease who initiated risankizumab. The primary analysis set comprised 42 patients who underwent BAE at baseline and at the visit closest to week 52. Endoscopic activity was quantified using the Simple Endoscopic Score for Crohn’s Disease (SES-CD). Endoscopic remission was defined as SES-CD ≤4 with a decrease of ≥2 points from baseline, and mucosal healing was defined as SES-CD ≤2. Results: In the paired BAE cohort (n = 42), the median SES-CD improved from 9 at baseline to 2 at follow-up (p < 0.0001). At follow-up, 76.2% (32/42) achieved endoscopic remission and 52.4% (22/42) achieved mucosal healing. Endoscopic remission was more frequent in bio-naïve than bio-experienced patients (93.3% vs. 66.7%, p = 0.054), whereas mucosal healing rates were similar (53.3% vs. 51.9%, p = 0.92). Conclusion: In this real-world Japanese cohort, risankizumab was associated with significant endoscopic improvement assessed by paired BAE at follow-up. Endoscopic remission and mucosal healing rates were high in the paired BAE cohort, particularly for endoscopic remission among bio-naïve patients.
Introduction: Bowel rest has traditionally been practiced for hospitalized patients with severe ulcerative colitis (UC). Most available evidence for bowel rest in UC originates from the prebiologic era. Therefore, this study evaluated the clinical impact of bowel rest in hospitalized patients with UC under modern therapy. Methods: A retrospective study was performed at a single tertiary hospital, where a change in institutional policy for hospitalized UC patients replaced essential bowel rest with early oral feeding in October 2019. Hospitalized UC patients were classified according to the timing of admission into a bowel rest group (group BR; February 2017–September 2019) and a non-bowel rest group (group non-BR; October 2019–October 2023). The primary outcome was colectomy avoidance. Secondary outcomes included hospital length of stay (LOS), central venous catheter (CVC) use, and related complications such as venous thromboembolism (VTE) and catheter-related bloodstream infection (CRBSI). Results: A total of 76 patients were analyzed (38 per group). Colectomy avoidance rate was similar in both groups (84.2% each, p = 0.98, log-rank test). Median LOS was shorter in group non-BR (22 vs. 31 days; p = 0.002). CVC use was more frequent (84.2% vs. 31.6%; p < 0.001) and longer (26 vs. 15 days; p = 0.001) in group BR. VTE and CRBSI rates did not differ between the two groups. Conclusions: Among UC patients able to tolerate oral intake, oral intake was associated with shorter hospitalization and reduced CVC use, suggesting that routine bowel rest may not provide additional benefit.
Introduction: Histological remission is the most predictive endpoint in inflammatory bowel disease (IBD), yet repeated biopsies are invasive. Interleukins (ILs) are emerging biomarkers that may capture histology-aligned activity. We systematically evaluated IL-6, IL-23, IL-17A, IL-1β, IL-8, and IL-10 as diagnostic and prognostic biomarkers in ulcerative colitis (UC) and Crohn’s disease (CD). Methods: MEDLINE, EMBASE, Scopus, and Web of Science were searched (January 1989–March 2025). Eligible studies quantified ILs in serum, plasma, stool, or tissue and reported diagnostic/prognostic outcomes against validated histology indices. Risk of bias was assessed with QUADAS-2 (diagnostic) and QUIPS (prognostic). Certainty was graded using GRADE. The feasibility of quantitative synthesis for individual ILs was explored; however, differences in assay platforms, reporting metrics, and biological matrices prevented valid statistical pooling. Results: Twenty-seven adult cohorts met the inclusion criteria. Serum IL-6 and IL-23 consistently showed the strongest diagnostic performance across studies, with reported AUC values generally ranging between approximately 0.80 and 0.86. Tissue IL-23/IL-17A aligned with neutrophils, crypt injury, and apoptosis, detecting subclinical inflammation and forecasting relapse (notably in ileal CD). IL-1β/IL-8 modestly reflected neutrophil-rich lesions. IL-10 inversely correlated with activity and higher remission levels predicted longer flare-free survival. Conclusion: IL-6 and IL-23 are the strongest serum biomarkers for histology-aligned activity; tissue IL-17A adds lesion-level resolution, while IL-10 provides prognostic value. IL profiling may complement CRP and fecal calprotectin (fCal) in future precision medicine strategies but requires further prospective validation before routine clinical application. Key Messages: Histological remission is the most reliable endpoint in IBD but requires invasive biopsies. IL profiling offers a biologically specific, noninvasive alternative that aligns with histological activity. Among candidate cytokines, serum IL-6 and IL-23 consistently show the strongest diagnostic performance, while tissue IL-17A enhances lesion-level resolution and IL-10 provides prognostic value for remission stability. IL signatures therefore complement C-reactive protein and fCal, supporting precision medicine strategies for individualized monitoring and therapy optimization in IBD.
Introduction: Real-world data on the long-term effectiveness of vedolizumab (VDZ) in East Asian patients with Crohn’s disease (CD) remain limited. This study aimed to assess treatment persistence, clinical and endoscopic effectiveness, safety, and predictors of VDZ discontinuation in a multicenter Japanese cohort. Methods: A retrospective study was conducted across seven hospitals between June 2019 and October 2025, including patients with CD who initiated VDZ. Outcomes included VDZ continuation, factors associated with discontinuation, longitudinal changes in clinical and endoscopic indices, and adverse events. Results: Seventy-three patients were included. VDZ continuation was 62.3% and 37.8% at 1 and 3 years, respectively. In a multivariable Cox analysis, higher baseline C-reactive protein (CRP), higher body mass index (BMI), and female sex were independently associated with increased risk of VDZ discontinuation, with a trend toward better persistence among patients with ileal disease. In the 1-year analysis, female sex and prior biologic exposure predicted early discontinuation. CD activity index and its subscores improved during early treatment, and albumin levels increased gradually over time. Simple endoscopic score for CD improved at 1 and 2 years. Among patients with active disease, >40% achieved remission from week 6 onward. Adverse events occurred in 16.4%, with two (2.7%) patients discontinuing VDZ due to infusion reactions or psoriasiform rashes. Conclusion: VDZ demonstrated acceptable long-term durability, clinically meaningful and endoscopic improvement, and a favorable safety profile in Japanese real-world practice. Baseline CRP, BMI, and sex were important predictors of treatment persistence.
Introduction: PSTPIP1-associated myeloid-related proteinemia inflammatory (PAMI) syndrome is a rare autoinflammatory disorder. Systemic inflammation, cytopenia, and skin lesions are classic features, accompanied by hypercalprotectinemia and hyperzincemia. Gastrointestinal manifestations such as colitis are infrequent. We present the first case in Thailand of PAMI syndrome presenting as refractory colitis. Case Presentation: A 23-year-old male presenting with adult-onset refractory colitis and a history of a teenage perianal abscess. Despite the relatively late onset of intestinal symptoms, the patient exhibited a complex clinical picture across multiple domains of inborn errors of immunity, including autoimmune hemolytic anemia (AIHA), chronic neutropenia, hepatosplenomegaly, and severe cystic acne. Genetic testing revealed a PSTPIP1 mutation (E250K variant), and laboratory results showed pathognomonic hyperzincemia, confirming PAMI syndrome. Treatment with Adalimumab led to significant clinical and endoscopic remission. Conclusion: PAMI syndrome should be considered a differential diagnosis in patients with atypical or refractory colitis, particularly when accompanied by systemic clues such as cytopenia, severe acne, or organomegaly. Serum zinc levels serve as a simple, cost-effective screening tool to facilitate prompt diagnosis and can function as a practical biomarker for monitoring the response to therapy.
Introduction:Intestinal endometriosis is a benign condition characterized by the presence of endometrial tissue within the bowel wall, often mimicking colorectal malignancy. Its coexistence with ulcerative colitis (UC) is rare and can complicate the diagnosis. Case Presentation:A 35-year-old woman with long-standing UC presented with severe diarrhea and rectal bleeding. Colonoscopy revealed severe disease activity with multiple deep ulcerations and a newly developed stricture in the sigmoid colon. Pathological examinations, including bite-on-bite biopsies, showed no evidence of malignancy. However, colitis-associated neoplasia (CAN) could not be completely ruled out because such lesions may primarily involve the deep layers of the colonic wall. Given the severity of disease and concern for possible CAN, a total colectomy was performed. Histopathological and immunohistochemical analysis of the resected specimen ultimately identified intestinal endometriosis as the cause of the stricture. Conclusion:This case underscores the importance of considering intestinal endometriosis in women with UC who develop unexplained colonic strictures, particularly when malignancy cannot be confirmed.
Introduction: Large vessel vasculitis, including Takayasu arteritis and giant cell arteritis (GCA), is a recognized extraintestinal manifestation of ulcerative colitis (UC), but its optimal management remains unclear. GCA is the principal systemic vasculitis in individuals aged over 50 years, and large vessel involvement may occur with or without cranial disease. We report a case of UC complicated by inflammation of the thoracic aorta and the proximal left subclavian and brachiocephalic arteries. Case Presentation: A 78-year-old man was diagnosed with proctitis-type UC. Mesalamine was switched to rectal budesonide enema plus azathioprine owing to intolerance. One month later, fever and neck pain appeared. Continuous linear hyperintensity on T2-weighted magnetic resonance imaging extended from part of the ascending aorta through the descending aorta, involving the aortic arch and the proximal left subclavian and brachiocephalic arteries and becoming less conspicuous distally. Corresponding images of contrast enhanced T1 weighted sampling perfection with application optimized contrasts using different flip angle evolutions with spectral pre saturation with inversion recovery demonstrated matching mural enhancement, consistent with large vessel GCA. Tocilizumab was administered, but UC relapsed, prompting adalimumab initiation, which later resulted in loss of response. Infliximab was attempted but was discontinued because of an infusion reaction. Prednisolone 10 mg/day resulted in improvement, and tofacitinib was introduced for steroid tapering. Conclusion: This case highlights the importance of considering large-vessel GCA in elderly-onset UC with unexplained fever and demonstrates the potential role of tofacitinib in achieving steroid-free remission and vascular inflammation, offering a potential novel therapeutic option for refractory overlap syndromes.
Background: Eosinophilic esophagitis (EoE) is a chronic immune-mediated disorder characterized by eosinophilic infiltration of the esophageal epithelium and symptoms of esophageal dysfunction. In pediatric patients, clinical presentation varies with age, ranging from gastroesophageal reflux disease-like symptoms in infants and toddlers to dysphagia and food impaction in older children and adolescents. Summary: Diagnosis is based on peak histological evidence of ≥15 eosinophils per high-power field in esophageal biopsy specimens obtained during upper endoscopy. Clinical assessment and follow-up are supported by validated tools, including the Pediatric Eosinophilic Esophagitis Symptom Score (PEESS® v2.0) and the Pediatric Quality of Life Inventory (PedsQL™). These instruments enable evaluation of symptom severity, monitoring of disease course, and assessment of treatment response. Key Messages: Pediatric EoE presents with age-dependent clinical features. Histological confirmation (≥15 eosinophils/hpf) is required for diagnosis. PEESS® v2.0 and PedsQL™ are reliable tools for clinical assessment and follow-up. Treatment aims to achieve clinical and histological remission, prevent fibrosis, and improve growth and quality of life.
Introduction: Systemic corticosteroids remain widely used in ulcerative colitis (UC), yet approximately half of initial responders relapse during tapering or soon after discontinuation (steroid dependency). Understanding patients at risk of steroid dependency may inform individualized treatment strategies. Here, we explore factors associated with steroid dependency using conventional regression analysis and an exploratory artificial neural network approach. Methods: Consecutive patients with UC who received their first course of systemic corticosteroids from May 2012 to March 2020 were retrospectively screened, and those who responded to corticosteroids at day 30 were enrolled from four institutions. Factors associated with steroid dependency were assessed by multivariable logistic regression and a self-organizing map (SOM), an unsupervised neural network. Steroid dependency was defined as clinical relapse during tapering or within 3 months after completion of corticosteroids. Results: A total of 107 patients who showed a clinical response at day 30 were analyzed. Thirty-three (30.8%) patients developed steroid dependency. In the multivariable logistic analysis, extensive colitis, initial dose of prednisolone, and two-item patient-reported outcome score at day 30 were independently associated with steroid dependency. In the SOM analysis, patients were categorized into 8 clusters with variable rates of steroid dependency, indicating heterogeneous multidimensional clinical patterns beyond those captured by conventional regression analysis. Conclusion: By combining an unsupervised SOM with conventional logistic regression, our study provided an exploratory visualization of multidimensional clinical patterns associated with steroid dependency. These findings are hypothesis-generating and require prospective validation with a larger sample size before clinical application.
Introduction: Given the paucity of data, we aimed to determine the impact of paediatric-onset inflammatory bowel disease on educational paths and careers. Methods: Data from the national prospective Swiss Inflammatory Bowel Disease (IBD) Cohort Study from May 2006 to October 2019 were analysed. Patients were stratified into the following groups according to their age at diagnosis: paediatric (0–17 years), early adult (age 18–30 years), and late adult (age 30–65 years). The three groups were compared regarding educational level, unemployment, absenteeism from work, and disability pension. Results: Among 2,199 patients, 7.6%, 42.3%, and 50.0% belonged to the paediatric, early adult, and late adult IBD diagnosis group, respectively (55.6% with Crohn’s disease [CD] and 44.4% with ulcerative colitis [UC]). Median age at diagnosis was 16.0, 24.2, and 44.3 years old, respectively. A total of 32.8% of paediatric CD patients achieved high educational levels (32.3% early adults, 31.6% late adults, p < 0.001). A total of 46.4% of early adult UC achieve high educational levels (40.8% paediatric, 35.9% late adult, p = 0.002). No significant differences were found between the three age groups with respect to unemployment rate and invalidity rent at both enrolment and last follow-up. Absenteeism was greater in paediatric CD (27.7% vs. 17.8% vs. 16.8%, p = 0.024) and paediatric UC (24.5% vs. 18.2% vs. 14.4%, p = 0.092) at enrolment. Depression and number of hospitalizations or medical consultations are associated with lower educational levels, greater absenteeism, and invalidity rate. Conclusions: Higher educational levels are attained by paediatric-onset CD and early adult UC patients, with greater absenteeism in paediatric and early adult-onset IBD.
Introduction: Increased expression of the epithelial-specific adhesion molecule integrin αvβ6 and the presence of anti-αvβ6 autoantibodies (V6 Ab) have been reported in ulcerative colitis (UC). However, the influence of single-nucleotide polymorphisms (SNPs) in the ITGAV gene on antibody titers, as well as their association with relapse in patients with mild disease, have not been fully elucidated. This study aimed to clarify the impact of ITGAV gene polymorphisms on serum V6 Ab levels in patients with UC. As secondary objectives, we evaluated the association between these SNPs and 1-year relapse and assessed the relapse predictive performance of V6 Ab levels using receiver operating characteristic (ROC) analysis. Methods: We retrospectively analyzed 61 patients with UC whose V6 Ab levels were measured at our institution between January 2023 and June 2025. Associations between four ITGAV SNPs (rs3911238, rs3768777, rs1448427, and rs10174098) and V6 Ab levels were examined. Among 49 patients with a partial Mayo score of 0 or 1, we evaluated the relationship between SNP variants and 1-year relapse. The predictive ability of V6 Ab for relapse was assessed using ROC analysis. Results: For all four ITGAV SNPs, carriers of variant alleles exhibited significantly higher serum V6 Ab levels compared with wild-type individuals. Among 49 patients with a partial Mayo score of 0 or 1, 14 (28.6%) experienced relapse within 1 year. The relapse group showed significantly higher frequencies of rs3768777, rs10174098, and rs1448427 variants than the non-relapse group. The predictive performance of V6 Ab levels for relapse yielded an area under the ROC curve of 0.78 (95% confidence interval: 0.64–0.89). At a threshold of 6.58 U/mL, sensitivity, specificity, and negative predictive value were 1.00, 0.54, and 1.00, respectively. Conclusion: ITGAV gene polymorphisms determined inter-individual variation in V6 Ab levels, with variant carriers exhibiting higher antibody titers and increased risk of relapse. Low V6 Ab levels were a reliable indicator for excluding relapse. The combined use of antibody titers with ITGAV SNP information may facilitate precision stratification of patients with UC in remission or with mild disease.
