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Journal articles on the topic 'Very early onset IBD'

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Published: 1 April 2023

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1

Batura, Vritika, and Aleixo M. Muise. "Very early onset IBD." Current Opinion in Allergy and Clinical Immunology 18, no. 6 (December 2018): 470–80. http://dx.doi.org/10.1097/aci.0000000000000486.

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2

Magg, Thomas, Anna Shcherbina, Duran Arslan, Mukesh M. Desai, Sarah Wall, Vanessa Mitsialis, Raffaele Conca, et al. "CARMIL2 Deficiency Presenting as Very Early Onset Inflammatory Bowel Disease." Inflammatory Bowel Diseases 25, no. 11 (May 22, 2019): 1788–95. http://dx.doi.org/10.1093/ibd/izz103.

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Abstract Background Children with very early onset inflammatory bowel diseases (VEO-IBD) often have a refractory and severe disease course. A significant number of described VEO-IBD-causing monogenic disorders can be attributed to defects in immune-related genes. The diagnosis of the underlying primary immunodeficiency (PID) often has critical implications for the treatment of patients with IBD-like phenotypes. Methods To identify the molecular etiology in 5 patients from 3 unrelated kindred with IBD-like symptoms, we conducted whole exome sequencing. Immune workup confirmed an underlying PID. Results Whole exome sequencing revealed 3 novel CARMIL2 loss-of-function mutations in our patients. Immunophenotyping of peripheral blood mononuclear cells showed reduction of regulatory and effector memory T cells and impaired B cell class switching. The T cell proliferation and activation assays confirmed defective responses to CD28 costimulation, consistent with CARMIL2 deficiency. Conclusion Our study highlights that human CARMIL2 deficiency can manifest with IBD-like symptoms. This example illustrates that early diagnosis of underlying PID is crucial for the treatment and prognosis of children with VEO-IBD.
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Conrad, Maire A., and Judith R. Kelsen. "Genomic and Immunologic Drivers of Very Early-Onset Inflammatory Bowel Disease." Pediatric and Developmental Pathology 22, no. 3 (March 6, 2019): 183–93. http://dx.doi.org/10.1177/1093526619834807.

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Purpose of Review Inflammatory bowel disease (IBD) is a multifactorial disease caused by dysregulated immune responses to commensal or pathogenic intestinal microbes, resulting in chronic intestinal inflammation. However, a subset of patients with IBD diagnosed <6 years of age, known as very early-onset (VEO)-IBD, can be phenotypically and genetically distinct from older onset IBD. We aim to review the clinical presentation of children with VEO-IBD and recent discoveries that point to the underlying genomic and immunologic drivers of disease, and the significant impact on our therapeutic decisions. Recent Findings VEO-IBD is increasing in incidence and is associated with more severe disease, aggressive progression, and poor response to most conventional therapies. This article will review some of the genetic findings in this population and the subsequent impact on therapy, with targeted approaches. Summary Children with VEO-IBD may present with a different phenotype and more severe disease than older children and adults. An integrated approach combining genetics, immunology, and traditional IBD evaluations can lead to the identification of causal defects that directly impact management. These strategies can also be employed in older onset refractory IBD.
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Levine, Anne E., Dominique Mark, Laila Smith, Hengqi B. Zheng, and David L. Suskind. "Pharmacologic Management of Monogenic and Very Early Onset Inflammatory Bowel Diseases." Pharmaceutics 15, no. 3 (March 17, 2023): 969. http://dx.doi.org/10.3390/pharmaceutics15030969.

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Inflammatory bowel disease (IBD) is treated with a variety of immunomodulating and immunosuppressive therapies; however, for the majority of cases, these therapies are not targeted for specific disease phenotypes. Monogenic IBD with causative genetic defect is the exception and represents a disease cohort where precision therapeutics can be applied. With the advent of rapid genetic sequencing platforms, these monogenic immunodeficiencies that cause inflammatory bowel disease are increasingly being identified. This subpopulation of IBD called very early onset inflammatory bowel disease (VEO-IBD) is defined by an age of onset of less than six years of age. Twenty percent of VEO-IBDs have an identifiable monogenic defect. The culprit genes are often involved in pro-inflammatory immune pathways, which represent potential avenues for targeted pharmacologic treatments. This review will provide an overview of the current state of disease-specific targeted therapies, as well as empiric treatment for undifferentiated causes of VEO-IBD.
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Liang, Guanxiang, Maire A. Conrad, Judith R. Kelsen, Lyanna R. Kessler, Jessica Breton, Lindsey G. Albenberg, Sarah Marakos, et al. "Dynamics of the Stool Virome in Very Early-Onset Inflammatory Bowel Disease." Journal of Crohn's and Colitis 14, no. 11 (May 14, 2020): 1600–1610. http://dx.doi.org/10.1093/ecco-jcc/jjaa094.

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Abstract Background and Aims Dysbiosis of the gut microbiota is a well-known correlate of the pathogenesis of inflammatory bowel disease [IBD]. However, few studies have examined the microbiome in very early-onset [VEO] IBD, which is defined as onset of IBD before 6 years of age. Here we focus on the viral portion of the microbiome—the virome—to assess possible viral associations with disease processes, reasoning that any viruses potentially associated with IBD might grow more robustly in younger subjects, and so be more detectable. Methods Virus-like particles [VLPs] were purified from stool samples collected from patients with VEO-IBD [n = 54] and healthy controls [n = 23], and characterized by DNA and RNA sequencing and VLP particle counts. Results The total number of VLPs was not significantly different between VEO-IBD and healthy controls. For bacterial viruses, the VEO-IBD subjects were found to have a higher ratio of Caudovirales vs to Microviridae compared to healthy controls. An increase in Caudovirales was also associated with immunosuppressive therapy. For viruses infecting human cells, Anelloviridae showed higher prevalence in VEO-IBD compared to healthy controls. Within the VEO-IBD group, higher levels of Anelloviridae DNA were also positively associated with immunosuppressive treatment. To search for new viruses, short sequences enriched in VEO-IBD samples were identified, and some could be validated in an independent cohort, although none was clearly viral; this provides sequence tags to interrogate in future studies. Conclusions These data thus document perturbations to normal viral populations associated with VEO-IBD, and provide a biomarker—Anelloviridae DNA levels—potentially useful for reporting the effectiveness of immunosuppression.
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Ahamed, Nazmul, Mukesh Khadga, Wahiduzzaman Majumder, and Md Rukunuzzaman. "An Eleven Months Old Infant with Very Early Onset Inflammatory Bowel Diseases (IBD): A Rare Case Report." Bangladesh Medical Journal 50, no. 2 (August 14, 2022): 45–49. http://dx.doi.org/10.3329/bmj.v50i2.61220.

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Inflammatory bowel disease (IBD) in pediatric cases has been seen rapidly increasing in number over the last decade. Now a days four types of pediatric IBD has been identified: less than ten years of age - early onset IBD, less than six years of age - very early onset IBD, less than two years of age- infantile IBD and less than twenty eight days of age - neonatal onset IBD. Young children presented with more aggressive clinical features and severity is more than the older children and adults. Early onset disease presenting in children may have a monogenic basis. Infantile IBD or neonatal IBD having the high rates to affect the first-degree relatives and there is very high chance to develop resistance against immunosuppressive treatment. Very early onset IBD (VEO-IBD) most commonly presenting per rectal bleeding with or without mucous stools, isolated colonic disease, perianal involvement, skin lesions, whereas early onset IBD (EO-IBD) commonly presented with abdominal pain and weight loss. A thorough history, physical examination, biochemical markers, endoscopic evaluation with macroscop and microscopic findings are the only way to reach the diagnosis. The treatment of VEO-IBD is the same as that given to the adolescents and adults with IBD (eg, anti-inflammatory agents, immunomodulators, biologics, antibiotics, and surgical approaches). Here, we report a rare case of very early onset IBD of a 11 months old male infant, who presented with the complaints of blood and mucus mixed loose watery stool for 10 days, having similar episodes for last five months. He was mildly pale, and had thrombocytosis with raised C reactive protein (CRP), features of colitis in stool routine microscopic test. The diagnosis was confirmed by colonoscopy and histopathology study, which showed features of Crohn’s colitis. He was treated by anti-inflammatory drugs (steroid and mesalazine) with a significant improvement in a short time. Bangladesh Med J. 2021 May; 50(2) : 45-49
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Holbein, Christina E., Jill Plevinsky, Trusha Patel, Maire C. Conrad, and Judith R. Kelsen. "Pediatric Global Health in Children with Very Early-Onset Inflammatory Bowel Disease." Journal of Pediatric Psychology 46, no. 7 (July 27, 2021): 747–56. http://dx.doi.org/10.1093/jpepsy/jsab035.

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Abstract Objective Children with very early-onset inflammatory bowel disease (VEO-IBD) represent a distinct group of patients with IBD with unique phenotypic and genetic characteristics; however, they are frequently omitted from psychosocial research. This study used a novel, brief measure of pediatric global health to assess (1) overall health-related quality of life (HRQOL) in children with VEO-IBD, (2) HRQOL compared to healthy children, and (3) whether gastrointestinal symptoms account for the differences in HRQOL between these groups. Methods Caregivers of 51 children with VEO-IBD (Mage = 4.26 years, 75% male) and 54 healthy children (Mage = 3.50 years, 54% male) completed the PROMIS Pediatric Global Health Scale (PGH-7) parent-proxy form to assess HRQOL and a questionnaire assessing gastrointestinal symptoms. Descriptive statistics, analysis of variance with covariates (ANCOVA), and meditation analyses with bootstrapping were conducted. Results Caregivers of children with VEO-IBD rated their HRQOL as relatively positive, although children with greater disease yielded lower ratings on some PGH-7 items (e.g., fun with friends, physical health, sadness). Compared to healthy youth, children with VEO-IBD scored lower on the PGH-7, with significantly lower item-level scores on overall health, physical health, mental health, and quality of life. Gastrointestinal symptoms mediated the association between health status (i.e., VEO-IBD vs. healthy) and HRQOL, αβ = −2.84, 95% CI = −5.70, −0.34. Conclusions While some children with VEO-IBD are at risk for deficits in HRQOL, many are quite resilient. Psychosocial screening is necessary for providing appropriate referrals to behavioral health services and learning more about psychosocial adjustment in children with VEO-IBD.
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Alahmari, A. A., A. M. Al-Bahlani, B. Frenette, A. Xuan-Lan Nguyen, N. Ahmed, and A. Sant’Anna. "A251 VERY EARLY ONSET INFLAMMATORY BOWEL DISEASE IN CHILDREN: A SINGLE CENTER EXPERIENCE OVER 15 YEARS." Journal of the Canadian Association of Gastroenterology 3, Supplement_1 (February 2020): 128–29. http://dx.doi.org/10.1093/jcag/gwz047.250.

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Abstract Background Very-early-onset inflammatory bowel disease (VEOIBD) refers to an IBD diagnosis established before the 6th year of life, including a subset of patients with disease onset before the age of 2 years, known as infantile-onset IBD (IO-IBD) (1). VEO-IBD accounts for 15% of pediatric IBD and infantile IBD in approximately 1% (2,3). VEOIBD is considered to be a unique entity, and compared to adults with IBD, VEO-IBD children are more likely to present with extensive and treatment-resistant disease (4). Aims To analyze the clinical characteristics and management of patients diagnosed with very early onset inflammatory bowel disease (VEO-IBD). Methods A retrospective analysis of children diagnosed with VEO-IBD (age &lt;6 years) at the Montreal Children’s Hospital from 2003–2018 was performed. Clinical data for VEO-IBD patients was collected to identify the clinical, biochemical, endoscopic and histological features of these patients and their clinical course until 2018. Results A total of 28 VEO-IBD patients (71% male) were included in this study. The median age of disease onset was 52 months. A diagnosis of Crohn’s disease (CD) or CD-like intestinal manifestations accounted for 89% of the VEO-IBD cases. Most patients had Crohn’s colitis (36%) of whom 50% had evidence of granulomatous Crohn’s disease; 11 patients[NAD1] [AQAB2] (39%) had upper gastrointestinal involvement. Over their progress of the disease, 4 patients (14%) required surgical intervention, while 11 patients (39%) required biologic therapy for maintenance therapy. Genetic[NAD3] [AQAB4] results were available for 5 patients out of 28 (18%) and 3 of them were identified to have monogenic IBD. Conclusions In our center, the majority of patients with VEO-IBD had typical Crohn’s disease presentation. Most of the VEO-IBD patients responded well to the standard IBD treatment. Genetic studies were not done regularly for all of our patients, however, among those who had this testing performed 3/5 had an identifiable cause, suggesting that these patients should be investigated for an underlying genetic abnormality. Funding Agencies None
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Örtqvist, Anne K., Cecilia Lundholm, Jonas Halfvarson, Jonas F. Ludvigsson, and Catarina Almqvist. "Fetal and early life antibiotics exposure and very early onset inflammatory bowel disease: a population-based study." Gut 68, no. 2 (January 10, 2018): 218–25. http://dx.doi.org/10.1136/gutjnl-2017-314352.

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ObjectiveEarlier studies on antibiotics exposure and development of IBD (Crohn’s disease (CD) and ulcerative colitis (UC)) may have been biased by familial factors and gastroenteritis. We aimed to estimate the association between antibiotics during pregnancy or infantile age and very early onset (VEO) IBD.DesignIn this cohort study of 827 239 children born in Sweden between 2006 and 2013, we examined the link between exposure to systemic antibiotics and VEO-IBD (diagnosis <6 years of age), using Cox proportional hazard regression models. Information on antibiotics and IBD was retrieved from the nationwide population-based Swedish Prescribed Drug Register and the National Patient Register. We specifically examined potential confounding from parental IBD and gastroenteritis.ResultsChildren exposed to antibiotics during pregnancy were at increased risk of IBD compared with general population controls (adjusted HR (aHR) 1.93; 95% CI 1.06 to 3.50). Corresponding aHRs were 2.48 (95% CI 1.01 to 6.08) for CD and 1.25 (95% CI 0.47 to 3.26) for UC, respectively. For antibiotics in infantile age, the aHR for IBD was 1.11 (95% CI 0.57 to 2.15); for CD 0.72 (95% CI 0.27 to 1.92) and 1.23 (95% CI 0.45 to 3.39) for UC. Excluding children with gastroenteritis 12 months prior to the first IBD diagnosis retained similar aHR for antibiotics during pregnancy and CD, while the association no longer remained significant for IBD.ConclusionWe found that exposure to antibiotics during pregnancy, but not in infantile age, is associated with an increased risk of VEO-IBD regardless of gastroenteritis. The risk increase for exposure in pregnancy may be due to changes in the microbiota.
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Pavanello, P. M., P. Moras, G. Cendon, A. Tommasini, and S. Martelossi. "P093 Very early onset IBD: the importance of genetic screening." Digestive and Liver Disease 50, no. 4 (October 2018): e391. http://dx.doi.org/10.1016/s1590-8658(18)31092-2.

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Shumilov, P. V., and A. E. Shchigoleva. "Features of very early-onset inflammatory bowel disease: the experience of the Federal Pediatric Center." Voprosy detskoj dietologii 19, no. 3 (2021): 5–13. http://dx.doi.org/10.20953/1727-5784-2021-3-5-13.

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Objective. To clarify the incidence of monogenic IBD-like diseases and the features of clinical course and response to therapy of major types of inflammatory bowel diseases (IBD) among children under the age of 6 with manifestation of the disease. Patients and methods. The study included 135 children under the age of 6 with manifestation of IBD; in the comparison group, there were 128 children after the age of 6 with manifestation of IBD (97 children with ulcerative colitis (UC) and 31 children with Crohn’s disease (CD)) who were observed for at least 1 year. All children underwent a standard examination, including calprotectin and antineutrophil antibodies testing, determination of activity by the Pediatric Ulcerative Colitis Activity Index (PUCAI) or the Pediatric Crohn’s Disease Activity Index (PCDAI), depending on the nosology. Children with the onset of IBD under 6 years of age underwent a genetic testing using Primary Immunodeficiency Panel by next-generation sequencing. All children were analyzed for efficacy of therapy during catamnestic observation. Results. It was revealed that in the study group the incidence of monogenic IBD-like diseases was 6.7%, of UC – 71.1%, of CD – 22.2%. Major types of IBD with very early onset differed little in their clinical, endoscopic and laboratory features from the forms with manifestation at an older age. In most cases, both CD (57%) and UC (71%) were characterized by low activity. Very earlyonset CD was characterized by isolated localization of the colon (53%, p = 0.037) and a non-stenotic and non-penetrating behaviour of the disease (60% of cases). The leading clinical symptoms were diarrhea (67%) and blood in the stool (63%, p = 0.04). Very early-onset UC was characterized by total lesion of the colon (84%, p = 0.001) and the development of anemia (48%, p = 0.01). Among children with very early-onset UC, the percentage of glucocorticosteroid-dependence and glucocorticosteroid-resistance was high, but anti-TNFα therapy was prescribed late. Conclusion. It is advisable to observe children with very early-onset IBD in federal multidisciplinary clinics, where there is experience in managing patients with this pathology. Key words: inflammatory bowel disease, very early onset, Crohn’s disease, ulcerative colitis, primary immunodeficiency, treatment, children
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Graziano, Francesco, Martina Busè, Nicola Cassata, and Michele Citrano. "Cerebral Venous Thrombosis in a Child With Very-Early-Onset IBD." Inflammatory Bowel Diseases 27, no. 6 (March 9, 2021): e71-e73. http://dx.doi.org/10.1093/ibd/izab050.

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Gramaglia, S. M. C., U. Cucinotta, V. Dipasquale, S. Arrigo, P. Gandullia, and C. Romano. "P263 Very early onset Inflammatory Bowel Diseases: Review of the Genoa-Messina joint clinical experience. Clinical history: Part I." Journal of Crohn's and Colitis 16, Supplement_1 (January 1, 2022): i304. http://dx.doi.org/10.1093/ecco-jcc/jjab232.390.

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Abstract Background Pediatric inflammatory bowel diseases (pIBD) have specific phenotypes compared to Inflammatory Bowel Diseases (IBD) in adults. The Very Early Onset-IBD (VEO-IBD) is considered a diagnosis of IBD in children before age 6 years old with 15% of prevalence. Methods The objective of this study was to compare the clinical and endoscopic features of VEO-IBD compared to pediatric IBD (diagnosis &gt; 6 years old) also in terms of natural history and response to treatment. The VEO patients followed at the IBD-Centers of Messina and Gaslini were enrolled retrospectively. We compared the results of this population with what is reported in the literature in terms of clinical characteristics at onset (symptoms, age at onset, age at diagnosis), comorbidities, complications, associated immunodeficiencies, endoscopic models. Percentage comparison and chi-square test of data was performed. Results 74 VEO-IBD patients were enrolled. The onset is around 3 years, a predominantly colonic localization, inflammatory pattern. Positive family history for IBD in 8.1%. Histology is very nonspecific and is characterized above all by basal plasmacytosis (CD 68,4%; CU 72,7%) and hypereosinophilia (CD 36,8%; CU 40%). At diagnosis, IBD-U (= Unclassified) is prevalent (47,2%), the frequency of which will decrease over the years (3 years after onset, 32.4%), differentiating into CU and CD (table 1). The main clinical manifestations at onset are chronic diarrhea (CD 89,5%; CU 91%), blood in the stool and / or hematochezia (CD 78,9%; CU 96,4%; table 2). Sensitive onset tests for IBD are ESR, fecal calprotectin and iron deficiency anemia (positive respectively in CD 75-60-71,4%%; CU 58,8-84,6-66,7%). The most frequent extraintestinal manifestations are arthritis (CD 22,2%) and sclerosing cholangitis (CU 7,3%). To highlight the significant statistical association (p &lt;0.05) between VEO-IBD and neuro / nephrological diseases (major renal malformations and nephropathies, autism and neuropsychiatric disorders; table 3). Among the most common complications are severe anemia (CD 31,6%; CU 42,6%), acute attack of severe colitis, malnutrition and fistulization. A monogenic form of VEO-IBD was found in 5.4% frequently linked to immunedeficiency, 2 cases required allogenic HSC transplantation (XIAP, WAS). Conclusion VEO-IBDs represent a challenge for the pediatric gastroenterologist. The clinical course is no more severe than pediatric inflammatory bowel diseases, with the exception of monogenic forms. A genetic association between nephro / neurological comorbidities and VEO-IBDs is likely, the genetics is still to be discovered. Further studies will be needed to define the best therapeutic and diagnostic approach for these diseases.
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Moran, Christopher J., Thomas D. Walters, Cong-Hui Guo, Subra Kugathasan, Christoph Klein, Dan Turner, Victorien M. Wolters, et al. "IL-10R Polymorphisms Are Associated with Very-early-onset Ulcerative Colitis." Inflammatory Bowel Diseases 19, no. 1 (January 2013): 115–23. http://dx.doi.org/10.1002/ibd.22974.

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Madhusudan, Manoj, Srinivas Sankaranarayanan, Ramkumar Ramamoorthy, Deenadayalan Munirathnam, and Meena Sivasankaran. "Prolidase Deficiency in Very Early Onset Inflammatory Bowel Disease (VEO-IBD)." Indian Journal of Pediatrics 88, no. 5 (January 9, 2021): 503. http://dx.doi.org/10.1007/s12098-020-03644-x.

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Arrigo, Serena, Paolo Gandullia, Silvia Vignola, Angela Calvi, Arrigo Barabino, Edoardo Lanino, Anna Monica Bianco, and Alberto Tommasini. "Very-early onset IBD in male as expression of XIAP mutation." Digestive and Liver Disease 46 (September 2014): e91. http://dx.doi.org/10.1016/j.dld.2014.07.068.

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Ouahed, Jodie, Elizabeth Spencer, Daniel Kotlarz, Dror S. Shouval, Matthew Kowalik, Kaiyue Peng, Michael Field, et al. "Very Early Onset Inflammatory Bowel Disease: A Clinical Approach With a Focus on the Role of Genetics and Underlying Immune Deficiencies." Inflammatory Bowel Diseases 26, no. 6 (December 3, 2019): 820–42. http://dx.doi.org/10.1093/ibd/izz259.

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Abstract Very early onset inflammatory bowel disease (VEO-IBD) is defined as IBD presenting before 6 years of age. When compared with IBD diagnosed in older children, VEO-IBD has some distinct characteristics such as a higher likelihood of an underlying monogenic etiology or primary immune deficiency. In addition, patients with VEO-IBD have a higher incidence of inflammatory bowel disease unclassified (IBD-U) as compared with older-onset IBD. In some populations, VEO-IBD represents the age group with the fastest growing incidence of IBD. There are contradicting reports on whether VEO-IBD is more resistant to conventional medical interventions. There is a strong need for ongoing research in the field of VEO-IBD to provide optimized management of these complex patients. Here, we provide an approach to diagnosis and management of patients with VEO-IBD. These recommendations are based on expert opinion from members of the VEO-IBD Consortium (www.VEOIBD.org). We highlight the importance of monogenic etiologies, underlying immune deficiencies, and provide a comprehensive description of monogenic etiologies identified to date that are responsible for VEO-IBD.
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Ninh, Giaan, Thomas Kallemose, Vibeke Wewer, and Christian Jakobsen. "Incidence, Disease Course, and Medical Treatment of a Danish Population-Based Cohort of Very Early-Onset Inflammatory Bowel Disease." GastroHep 2022 (May 11, 2022): 1–11. http://dx.doi.org/10.1155/2022/3507028.

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Background and Aims. In very early-onset IBD patients (VEO-IBD), studies have shown an incidence ranging from 0.4 to 2.1/100,000, extensive disease location, and a corresponding difficult and debatable treatment. We therefore aimed to investigate the incidence and medical and surgical treatment of VEO-IBD in a well-defined Danish population-based cohort. Methods. All VEO-IBD patients, defined as an IBD diagnosis before 6 years of age, were included from the Capital Region and the Zealand Region in 2015-2020. Demographic and clinical data including medical and surgical treatment were systematically extracted from the patient files. Results. Forty VEO-IBD patients were identified, 11 diagnosed with CD, 23 UC, and 6 IBD-U. The incidence rate of VEO-IBD was 2.0/100,000 (95% CI 0.8-5.9). All VEO-IBD patients except one had extensive colonic involvement or pancolitis. A total of 34 (85.0%) and 23 (57.5%) of the VEO-IBD patients received immunomodulators and/or biologicals, respectively. The cumulative risks of receiving immunomodulators and/or biologicals after 1/3/5 years was 55.3%/86.8%/90.1% and 36.8%/45.9%/57.0%, respectively. During follow-up, six VEO-IBD patients (15.0%) were treated with vedolizumab—although off-label for this age group—as second-line biological therapy. Four patients (17.4%) with UC had a colectomy. Two colectomised patients were treated with vedolizumab. Conclusion. Our population-based study showed an incidence of VEO-IBD comparable with the incidence in other countries. The population were treated intensively with immunomodulators and biologicals—including off-label vedolizumab—and compared to other studies had the same risk of undergoing IBD-related surgeries.
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Ninh, G., V. Wewer, and C. Jakobsen. "P501 Incidence and therapeutic management/treatment of very early onset inflammatory bowel disease during 2015–2020." Journal of Crohn's and Colitis 15, Supplement_1 (May 1, 2021): S485. http://dx.doi.org/10.1093/ecco-jcc/jjab076.624.

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Abstract Background To investigate the incidence of very early onset inflammatory bowel disease (VEO-IBD) in a cohort representing two regions in Denmark during the period 2015–2019 and to assess the medical and surgical treatment. Methods All patients diagnosed with VEO-IBD within The Capital Region and The Zealand Region from January 1, 2015 to July 1, 2020 were included. Demographic and clinical data and medical and surgical treatment were extracted from the files. Results Forty patients with VEO-IBD were identified. The incidence rate was 2.0/100,000 (CI 95% 0.8–5.9) during the 2015–2019. Totally 35 patients (87.5%) received immunomodulatory therapy during follow-up. The cumulative risk of receiving immunomodulatory therapy after 1 year, 3 years and 5 years was 58% (95% CI 39–71), 88% (95% CI 70–95) and 91% (95% CI 73–97) respectively. Totally 23 patients (57.5%) received biological therapy. The cumulative risk of receiving biological therapy after 1 year, 3 years and 5 years was 37% (95% CI 19–50), 46% (95% CI 27–60) and 57% (95% CI 36–71) respectively. Six patients (15%) received vedolizumab. Four patients (10%) with VEO-IBD underwent a colectomy during the follow-up period of which two patients received vedolizumab. Conclusion The incidence of VEO-IBD was 2.0/100,000. Medical treatment with immunomodulators and biological therapy was used extensively, possibly reducing surgery. However, medical treatment remains a complicated balancing of the effect (anti-inflammatory), side effect (cancer risk) and surgery in VEO-IBD.
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Fonseca, Ashley, Julee Sunny, and Lina M. Felipez. "Very Early-Onset Inflammatory Bowel Disease (VEO-IBD) Presenting with Recurrent Leukocytoclastic Vasculitis Preceded by Streptococcal Pharyngitis." Case Reports in Pediatrics 2021 (May 20, 2021): 1–4. http://dx.doi.org/10.1155/2021/1996430.

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Inflammatory bowel disease (IBD) that presents in children <6 years of age is known as very early-onset IBD (VEO-IBD). Extraintestinal manifestations in IBD, such as erythema nodosum (EN), pyoderma gangrenosum (PG), and, less likely, leukocytoclastic vasculitis (LV), are more commonly present in Crohn’s disease. Association between LV and ulcerative colitis (UC) is not commonly seen. We report a case of a 6-year-old female with a VEO-IBD UC phenotype presenting with multiple episodes of leukocytoclastic vasculitis, each preceded by streptococcal pharyngitis. Prior to the diagnosis of VEO-IBD, a skin biopsy was obtained and had shown leukocytoclastic vasculitis with a negative IgA stain. Initial laboratory results were remarkable for leukocytosis and increased anti-strep O and anti-DNase B titers. Gastrointestinal panel PCR demonstrated Clostridium difficile toxin A/B. Treatment for LV consisted of methylprednisolone IV 20 mg for four days with a weaning schedule of prednisolone for two weeks and naproxen 250 mg BID for three days. Clostridium difficile was treated with metronidazole 250 mg TID for ten days. She remained stable for three years until she presented with continuous bloody stools, newly onset chest pain, and shortness of breath. Computed tomography angiogram (CTA) was normal. Stool calprotectin was elevated at 658 mcg/gm. Abdominal magnetic resonance enterography (MRE), esophagogastroduodenoscopy, and colonoscopy confirmed a VEO-IBD ulcerative colitis phenotype. She was started on infliximab 10 mg/kg every four weeks after infliximab titers, and antibodies were obtained. Currently, the patient remains on clinical and biochemical remission, with no recent LV episodes or recurrence of streptococcal pharyngitis. Our patient is unique as no case report has been published with multiple episodes of leukocytoclastic vasculitis in association with a VEO-IBD UC phenotype.
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Parente, Paola, Maria Pastore, Federica Grillo, Matteo Fassan, Paola Francalanci, Angelica Dirodi, Chiara Rossi, et al. "Very Early Onset-IBD: evidence for the need of a multidisciplinary approach." Pathologica 114, no. 1 (February 2022): 3–11. http://dx.doi.org/10.32074/1591-951x-336.

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Kelsen, Judith R., Christopher J. Moran, Ariella Sasson, Mahdi Sarmady, Kernika Gupta, Helen Pauly-Hubbard, Eric Rappaport, et al. "95 Exome Sequencing Analysis of Candidate Genes in Very Early Onset IBD." Gastroenterology 146, no. 5 (May 2014): S—27. http://dx.doi.org/10.1016/s0016-5085(14)60095-0.

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Martone, G., and H. Lehman. "CARD11 MUTATION IN A PATIENT WITH VERY EARLY ONSET IBD AND IMMUNODEFICIENCY." Annals of Allergy, Asthma & Immunology 129, no. 5 (November 2022): S139—S140. http://dx.doi.org/10.1016/j.anai.2022.08.906.

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Shen, Jiaying. "Sequence Analysis of TNFRSF13b, Encoding TACI, in a Patient with Very Early Onset Inflammatory Bowel Disease: a Case Report." Journal of Advances in Medicine Science 1, no. 4 (November 22, 2018): 110. http://dx.doi.org/10.30564/jams.v1i4.290.

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Very early onset inflammatory bowel disease (VEO-IBD), IBD diagnosed before 6 years of age, frequently presents with increased severity, aggressive progression, and often poor response to conventional treatments. Although the cause of IBD is generally considered to be intestinal immune dysfunction induced by polygenic mutations and environment and other factors, VEO-IBD has a stronger genetic susceptibility specifically the neonatal- or infantile-onset IBD. Herein we report compound heterozygous mutations in the tumor necrosis factor receptor superfamily member 13b (TNFRSF13B) gene in a 3-year-old male that was admitted to our hospital with lasted jaundice, repeated fever and diarrhea in May 2014 at 2-month-old. He was diagnosed with VEO-IBD based on clinical, laboratory and histopathological examination. However, he was unresponsive to the conventional therapy, including the nutritional support therapy, antibiotic and immunosuppressive treatment, and surgical release of neonatal intestinal obstruction. Novel compound heterozygous mutations, c.[365G>A];[452C>T](p.[R122Q];[P151L]), were discovered in TNFRSF13B, encoding TACI, for this patient.
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Huma Arshad Cheema, Nadia Waheed, Anjum Saeed, Zafar Fayyaz, Muhammad Nadeem Anjum, Muhammad Arshad Alvi, and Syeda Sara Batool. "Very early onset inflammatory bowel disease (VEO-IBD); spectrum of clinical presentation, diagnostic tools and outcome in children." Journal of the Pakistan Medical Association 71, no. 10 (July 26, 2021): 2350–54. http://dx.doi.org/10.47391/jpma.05-725.

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Background: Very early-onset inflammatory bowel disease (VEO-IBD) is defined as diagnosis of Ulcerative Colitis (UC) or Crohn’s Disease (CD) in children under six years of age. Genome wide association studies have linked a strong genetic component responsible for VEO-IBD. Approximately, 30-40% children of VEO-IBD have underlying immunodeficiency states. We aimed to study the spectrum of presentation, underlying monogenetic defects and outcome in VEO-IBD. Methods: This is a prospective, observational study conducted at division of Gastroenterology, the Children's Hospital & the Institute of Child Health, Lahore, over 2 years. Children developing features of IBD under six-years of age were included. Data included demography, clinical presentation, diagnostic tools and outcome. Gastroscopy and colonoscopy were performed in all patients in addition to basic work up done for associatedimmunodeficiency states and molecular genetics. SPSS version 21 was used for analysis. Continuous...
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Schonman, Ian A., Sona Sehgal, Luv R. Javia, and Nancy M. Bauman. "Laryngeal Manifestations of Crohn’s Disease in a Toddler with Very Early Onset-IBD." Annals of Otology, Rhinology & Laryngology 130, no. 10 (March 4, 2021): 1202–6. http://dx.doi.org/10.1177/0003489421998214.

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Objectives: We report obstructing laryngeal manifestations of Crohn’s disease in a toddler with very early onset-IBD (VEO-IBD) who required tracheotomy tube placement at 27 months of age for relief of recalcitrant airway obstruction unresponsive to maximal medical therapy. We review the literature for the frequency of extra-intestinal laryngeal manifestations of Crohn’s disease in adults and children. Methods: Case report and literature review of laryngeal manifestations of Crohn’s disease. Results: Laryngeal involvement of Crohn’s disease is very rare with only 14 other cases reported. Most cases appear in adults, with the supraglottis most commonly affected. This case marks the youngest report and only the second report of a patient requiring a tracheotomy for supraglottic obstruction when intensive medical management, including use of steroids and biologics, failed to relieve obstructing laryngeal inflammation. Despite ongoing Crohn’s disease, laryngeal manifestations improved permitting decannulation the following year. Conclusions: Laryngeal manifestations of Crohn’s disease are rare and usually affect adults. Most cases are managed with medical therapy, however surgical excision of obstructing lesions or tracheotomy placement is sometimes required for temporary relief of airway obstruction.
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Barbiellini Amidei, Claudio, Fabiana Zingone, Loris Zanier, and Cristina Canova. "Risk of Prevalent Asthma among Children Affected by Inflammatory Bowel Disease: A Population-Based Birth Cohort Study." International Journal of Environmental Research and Public Health 17, no. 12 (June 15, 2020): 4255. http://dx.doi.org/10.3390/ijerph17124255.

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Literature on the risk of asthma among children with inflammatory bowel disease (IBD) is limited and has reported discording results. To the best of our knowledge, no previous study has evaluated the association between asthma and childhood onset IBD, focusing on pediatric IBD with onset between 10 and 17 years, early-onset IBD (EO-IBD) between 0 and 9 years, and very early-onset IBD (VEO-IBD) between 0 and 5 years, all conditions characterized by different clinical progressions. A nested matched case-control design on a longitudinal cohort of 213,515 newborns was adopted. Conditional binomial regression models were used to estimate odds ratios (OR) and 95% confidence intervals (CI) of asthma among children with IBD compared with controls. We found 162 children with IBD and 1620 controls. Overall, childhood onset IBD was associated with increased risks of being affected by asthma (OR: 1.49 95% CI 1.05–2.12), although a significant risk was only present among males (OR: 1.60 95% CI 1.02–2.51). Children with Crohn’s disease and ulcerative colitis had similarly increased risks, although they failed to attain statistical significance. Risks of asthma based on age at IBD onset were inversely related to age, with the lowest non-significant risks for pediatric IBD and EO-IBD, while children affected by VEO-IBD had the highest risk of asthma (OR: 2.75 95% CI 1.26–6.02). Our study suggests the presence of a higher prevalence of asthma among both male children with IBD and children with VEO-IBD. It could be advisable to pay greater attention to possible respiratory symptoms among these categories at higher risk.
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Fabiszewska, Sylwia, Edyta Derda, Edyta Szymanska, Marcin Osiecki, and Jaroslaw Kierkus. "Safety and Effectiveness of Vedolizumab for the Treatment of Pediatric Patients with Very Early Onset Inflammatory Bowel Diseases." Journal of Clinical Medicine 10, no. 13 (July 5, 2021): 2997. http://dx.doi.org/10.3390/jcm10132997.

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Background: Vedolizumab (vedo) is effective for induction and maintenance of remission in adults with inflammatory bowel disease (IBD). Pediatric data are still limited, especially for the youngest children with very early onset disease (VEO-IBD). The aim of this study was to assess the safety and efficacy of vedo in VEO-IBD. Methods: We performed a retrospective review of pediatric IBD patients with VEO-IBD (defined as aged <6 years) receiving vedo. Data on demographics, disease behavior, activity, and previous treatments/surgeries were collected. Disease activity was assessed using the pediatric Crohn’s disease (CD) activity index (PCDAI) for CD or pediatric ulcerative colitis (UC) activity index (PUCAI) for UC. Primary outcome was clinical response after induction therapy with vedolizumab (4th dose week). It was defined as a decrease in PCDAI of at least 12.5 points between baseline and 4th dose week for CD, and a decrease in PUCAI of at least 20 points between baseline and this time for UC. Descriptive statistics were performed to analyze the data. Results: The study included 16 patients with VEO-IBD who have received vedo: 4/16 (25%) with CD, and 12/16 (75%) with UC at the median age of diagnosis 33.7 months (6.6 months–4.5 years). Median age at vedo initiation was 6.5 years (2.2–16.5 years). Among the analyzed individuals, 56.25% had failed more than one anti-tumor necrosis factor (TNF) alfa agent. Clinical response at 4th dose week was observed in 9/16 (56.3%) patients: mean baseline PCDAI score was 34.4 ± 1.9 and 10.6 ± 1.8 after induction therapy with vedo, while PUCAI score was 26 ± 6 vs. 18 ± 8, respectively. There was improvement in patients’ nutritional state: at baseline 2/16 (12.5%) children had body mass index (BMI) below 1 percentile and no child had such BMI after induction therapy with vedo. No infusion reactions or serious adverse events/infections were reported. Conclusion: Vedolizumab is safe and effective in the medical management of pediatric patients with VEO-IBD.
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Wylde, Rebecca, Aoife Carey, Billy Bourke, Annemarie Broderick, Shona Quinn, Mary Hamzawi, Karen Gleeson, and Seamus Hussey. "Sa1156 Rising Incidence and Increasing Severity of Very Early Onset IBD in Ireland." Gastroenterology 146, no. 5 (May 2014): S—214—S—215. http://dx.doi.org/10.1016/s0016-5085(14)60760-5.

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Wylde, R., A. Carey, B. Bourke, A. Broderick, S. Quinn, M. Hamzawi, K. Gleeson, and S. Hussey. "P152 Rising incidence and increasing severity of very early onset IBD in Ireland." Journal of Crohn's and Colitis 8 (February 2014): S126. http://dx.doi.org/10.1016/s1873-9946(14)60274-9.

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Ensari, Arzu, Judith Kelsen, and Pierre Russo. "Newcomers in paediatric GI pathology: childhood enteropathies including very early onset monogenic IBD." Virchows Archiv 472, no. 1 (July 17, 2017): 111–23. http://dx.doi.org/10.1007/s00428-017-2197-9.

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Chernikova, D., and C. Kuo. "RARE MUTATION IN AIRE GENE IDENTIFIED IN PATIENT WITH VERY EARLY ONSET IBD." Annals of Allergy, Asthma & Immunology 129, no. 5 (November 2022): S145. http://dx.doi.org/10.1016/j.anai.2022.08.925.

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Gramaglia, S. M. C., U. Cucinotta, V. Dipasquale, A. Serena, P. Gandullia, and C. Romano. "P300 Very early onset Inflammatory Bowel Diseases: Review of the Genoa-Messina joint clinical experience. Therapeutic approach: Part II." Journal of Crohn's and Colitis 16, Supplement_1 (January 1, 2022): i330. http://dx.doi.org/10.1093/ecco-jcc/jjab232.427.

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Abstract Background Pediatric inflammatory bowel diseases (pIBD) have specific phenotypes compared to Inflammatory Bowel Diseases (IBD) in adults. The Very Early Onset-IBD (VEO-IBD) is considered a diagnosis of IBD in children before age, 6 years old with, 15% of prevalence. Methods The objective of this study was to compare the clinical and endoscopic features of VEO-IBD compared to pediatric IBD (diagnosis &gt;, 6 years old) also in terms of natural history and response to treatment. The VEO patients followed at the IBD-Centers of Messina and Gaslini were enrolled retrospectively. We compared the results of this population with what is reported in the literature in terms of therapeutic approach and surgery. Percentage comparison of data was performed. Results 74 VEO-IBD patients were enrolled. At the onset of the disease, during induction therapy, we found, 15–21% of VEO-IBDs are corticoresistant, remission was with Infliximab (table 1). During disease follow-up of at least, 5 years from onset: CD, 47,4% and CU, 61,1% of VEO-IBDs remain in therapeutic maintenance with, 1st line drugs (Mesalazine and Azathioprine; table 2). This result highlights how the VEO-IBDs also maintain clinical, histological and endoscopic remission even with, 1st line drugs, the only exception being the monogenic forms that may also require HSC transplantation. The surgical approach, according to our data, is far superior to that reported in the literature, although there are several conflicting studies in this regard. Patients undergoing major surgery (colectomy, ileostomy, ileorectoanastomosis, J pouch) are CD, 36.8% and CU, 18.5%, if we also consider minor surgery (perianal surgery; CD, 36.8%) the percentage of patients with Crohn’s disease undergoing surgery increases to, 52.6%. These numbers are far above what is reported in the literature:, 14–15% after, 5 years from diagnosis. It is likely that this result is due to the high numbers of procedures performed at Gaslini Institute, National Center for these diseases. A monogenic form of VEO-IBD was found in, 5.4% frequently linked to immunedeficiency, 2 cases (2,7%) required allogeneic HSC transplantation (XIAP, WAS) with complete recovery from disease. Conclusion VEO-IBDs represent a challenge for the pediatric gastroenterologist. Therapy is no different in terms of response from pediatric inflammatory bowel diseases, with the exception of monogenic forms who may need HSC transplant. Many VEO IBDs maintain remission with, 1st line drugs. Further studies will be needed to define the best therapeutic and diagnostic approach for these diseases.
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Collen, Lauren, Michael Field, Alal Eran, Vanessa Mitsialis, Jared Barends, Gwen Saccocia, Mairead Bresnahan, et al. "BULK RNA-SEQUENCING OF BLOOD INFORMS MOLECULAR DIAGNOSES IN VERY EARLY ONSET INFLAMMATORY BOWEL DISEASE." Inflammatory Bowel Diseases 29, Supplement_1 (January 26, 2023): S56. http://dx.doi.org/10.1093/ibd/izac247.108.

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Abstract BACKGROUND Very early onset inflammatory bowel disease (VEOIBD) is defined as disease onset prior to age 6. VEOIBD is monogenic in &gt;5% of cases; however, in the remaining cases, molecular basis of disease is unknown. We aimed to utilize bulk RNA-seq of blood to 1) define transcriptional signatures in established monogenic IBD and 2) to inform novel molecular diagnoses. METHODS We sequenced the transcriptomes of 115 whole blood samples, comprising patients with VEOIBD of a known monogenic cause (n=35), VEOIBD without a known monogenic cause (n=70), and healthy controls (n=10). We focused on genes whose normalized expression was at least 5 standard deviations away from the population mean in at least one sample. We comprehensively characterized clinical phenotypes, to assess concordance with known pathway and gene function, and compared to whole exome sequencing data where available. We interrogated Bayesian IBD networks to assess for enrichment of genes of interest. RESULTS First, we report on a novel transcriptional signature shared by two patients with VEOIBD secondary to X-linked agammaglobulinemia (pathogenic BTK mutations). The signature is defined by under-expression of CXCR5 and FCRL5 (Fig 1) and suggests reduced transcripts secondary to B-cell depletion or novel BTK-dependent mechanisms of gene transcription. Second, we report on three novel candidate VEOIBD genes identified through our approach: MSN, SLC39A4, and BTN3A2 (Fig 2). MSN expression was below threshold in one patient with VEOIBD complicated by fistulae, recurrent infections, and death from pneumonia at age 62. Review of his exome revealed a novel loss of function mutation in MSN. MSN encodes moesin, an actin cytoskeleton modulator, which regulates lymphocyte migration and adhesion. Mutations in MSN are associated with X-linked moesin-associated immunodeficiency, which was first reported in a patient with IBD this year. SLC39A4, which encodes an intestinal zinc transporter, was below threshold in two patients. Mutations in SLC39A4 are associated with acrodermatitis enteropathica, characterized by dermatitis and diarrhea. One patient has VEOIBD with dermatitis; the second has VEOIBD complicated by toxic megacolon and colectomy. Coding mutations in SLC39A4 have not been identified. Further molecular assessment of zinc transporter function is underway. Lastly, BTN3A2 expression was below threshold in two patients with infantile-onset IBD. BTN3A2 plays a role in T cell receptor interactions and NF-KB signaling. Bayesian IBD networks, built from independent cohorts, revealed BTN3A2 and SLC39A4 subnetworks to be enriched in predicted key driver genes of inflammation, further supporting these genes’ potential disease association. CONCLUSIONS Bulk RNA-seq in blood can be used as a diagnostic tool to aid in identifying novel molecular pathways and monogenic diagnoses in VEOIBD.
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Kelsen, Judith R., Jodie Ouahed, Waldo A. Spessott, Kameron Kooshesh, Maria L. Sanmillan, Noor Dawany, Kathleen E. Sullivan, et al. "25 MUTATIONS IN STXBP3 CONTRIBUTE TO VERY EARLY ONSET OF IBD, IMMUNODEFICIENCY AND HEARING LOSS." Inflammatory Bowel Diseases 24, suppl_1 (January 18, 2018): S28. http://dx.doi.org/10.1093/ibd/izy019.087.

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Charbit-Henrion, Fabienne, Marianna Parlato, Sylvain Hanein, Rémi Duclaux-Loras, Jan Nowak, Bernadette Begue, Sabine Rakotobe, et al. "Diagnostic Yield of Next-generation Sequencing in Very Early-onset Inflammatory Bowel Diseases: A Multicentre Study." Journal of Crohn's and Colitis 12, no. 9 (May 18, 2018): 1104–12. http://dx.doi.org/10.1093/ecco-jcc/jjy068.

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Abstract Background and Aims An expanding number of monogenic defects have been identified as causative of severe forms of very early-onset inflammatory bowel diseases [VEO-IBD]. The present study aimed at defining how next-generation sequencing [NGS] methods can be used to improve identification of known molecular diagnosis and to adapt treatment. Methods A total of 207 children were recruited in 45 paediatric centres through an international collaborative network [ESPGHAN GENIUS working group] with a clinical presentation of severe VEO-IBD [n = 185] or an anamnesis suggestive of a monogenic disorder [n = 22]. Patients were divided at inclusion into three phenotypic subsets: predominantly small bowel inflammation, colitis with perianal lesions, and colitis only. Methods to obtain molecular diagnosis included functional tests followed by specific Sanger sequencing, custom-made targeted NGS, and in selected cases whole exome sequencing [WES] of parents-child trios. Genetic findings were validated clinically and/or functionally. Results Molecular diagnosis was achieved in 66/207 children [32%]: 61% with small bowel inflammation, 39% with colitis and perianal lesions, and 18% with colitis only. Targeted NGS pinpointed gene mutations causative of atypical presentations, and identified large exonic copy number variations previously missed by WES. Conclusions Our results lead us to propose an optimised diagnostic strategy to identify known monogenic causes of severe IBD.
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Eindor, A., L. Meleady, A. Lakhani, S. Lawrence, G. Krikler, Z. Hamilton, and K. Jacobson. "A171 MAGNETIC RESONANCE IMAGING IN CHILDREN WITH EARLY ONSET INFLAMMATORY BOWEL DISEASE- A RETROSPECTIVE COHORT STUDY." Journal of the Canadian Association of Gastroenterology 3, Supplement_1 (February 2020): 36–37. http://dx.doi.org/10.1093/jcag/gwz047.170.

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Abstract Background Magnetic Resonance (MR) Imaging is the preferred imaging method in Inflammatory Bowel Disease (IBD) patients to investigate for small bowel disease. There are challenges in performing MR imaging in Early Onset IBD (EO-IBD) patients, and in particular in children with Very Early Onset IBD (VEO-IBD). These children often need a general anaesthetic which exposes them to adverse effects and preclude conventional luminal distention influencing the quality of the test. Therefore, the utility of MR imaging in this age group is questionable. Aims To assess the quality of MRI studies in VEO-IBD and EO-IBD patients and to compare the utility of this test between the two groups. Methods We retrospectively identified and reviewed IBD patients diagnosed under 10 years of age, between January 1999 and December 2011, from the British Columbia Children’s Hospital (BCCH) GI Division IBD database. Patients’ first diagnostic MRI results were recorded. Disease location and severity were documented according to the Paris classification. Results 124 patients were included in the cohort, 54 VEO-IBD and 70 EO-IBD patients (See Table 1). Median age at diagnosis was 6.46 (IQR 3.94–8.71), 65.32% males and 43.54% were diagnosed with Crohn’s disease. Overall, 52 patients underwent MRI, 17 (31.48%) in the VEO-IBD group and 35 (50%) in the EO-IBD group; median time from diagnosis to MRI was 3.02 years (IQR 1.08–5.83) for VEO-IBD and 0.44 years (IQR 0.07–1.58) for EO-IBD (p&lt;0.001). In the EO-IBD group there was a significantly higher percentage of patients with MRI findings than in the VEO-IBD group, 23 (67.31%) and 5 (29.41%) respectively (p=0.014). Only one patient in the VEO-IBD group had a disease characteristic identified by MR imaging that could not be diagnosed by endoscopy (small bowel disease). Conclusions The diagnostic yield of MRI in children with VEO-IBD appears to be quite limited but requires further study. Funding Agencies None
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Parente, Paola, Luca Mastracci, Alessandro Vanoli, Matteo Fassan, Maria Pastore, Fabrizio Bossa, Paola Francalanci, Rita Alaggio, Paolo Graziano, and Federica Grillo. "Pattern-based Histologic Approach in Very Early Onset IBD: Main Features and Differential Diagnosis." Advances in Anatomic Pathology 29, no. 2 (October 6, 2021): 71–80. http://dx.doi.org/10.1097/pap.0000000000000323.

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Wylde, R., A. Carey, M. Hamzawi, S. Quinn, A. Broderick, B. Bourke, and S. Hussey. "P-024: Rising incidence and increasing severity of very early onset IBD in Ireland." Journal of Crohn's and Colitis 8 (September 2014): S402. http://dx.doi.org/10.1016/s1873-9946(14)50034-7.

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Oh, Seak Hee, Young Hoon Sung, Inki Kim, Chan Kyu Sim, Jung Hoon Lee, Minkyung Baek, Chan-Gi Pack, et al. "Novel Compound Heterozygote Mutation in IL10RA in a Patient With Very Early-Onset Inflammatory Bowel Disease." Inflammatory Bowel Diseases 25, no. 3 (November 21, 2018): 498–509. http://dx.doi.org/10.1093/ibd/izy353.

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Kandavel, Prashanthi, Victoria Shakhin, Mallory Chavannes, Christopher Gayer, Hillel Naon, Wang Larry, and George Yanni. "COLORECTAL ADENOCARCINOMA DEVELOPING IN A YOUNG FEMALE WITH OVERLAP SYNDROME AND VERY EARLY ONSET-INFLAMMATORY BOWEL DISEASE: A CASE REPORT." Inflammatory Bowel Diseases 27, Supplement_1 (January 1, 2021): S14—S15. http://dx.doi.org/10.1093/ibd/izaa347.036.

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Abstract We present a 4-year-old female diagnosed with very-early onset inflammatory bowel disease (VEO-IBD), ulcerative colitis type, and overlap syndrome based on clinical presentation, blood and stool studies, diagnostic endoscopies and liver biopsy. Her clinical course was complicated by pervasive psychological stressors, non-compliance with medical therapy, and frequent provider changes. Initial treatment included Prednisone, 6-mercaptopurine and Ursodiol. Treatment was escalated to include multiple biological agents which were stopped prematurely due to non-adherence. She developed weight loss and growth stunting, necessitating exclusive enteral nutrition and then parenteral nutrition. Due to medically refractory disease, she underwent a total colectomy with end ileostomy at the age of 13. Pathology revealed stage III colorectal adenocarcinoma (CRC) with lymph node involvement and transmural inflammation diagnostic of Crohn’s disease (CD). Genetic testing of the resected colon noted a missense mutation of TP53. Our patient completed 6 cycles of extensive and targeted chemotherapy with no evidence of disease reccurrence. She recently underwent ileal pouch-anal anastomosis and creation of a diverting ileostomy. CRC is exceedingly rare in pediatric IBD (PIBD) patients, with less than 30 reported cases in the available literature1. Most cases occurred in males and patients with ulcerative colitis (UC) and primary sclerosing cholangitis (PSC), where the risk of developing CRC is four times greater2. The risk of CRC increases with disease duration, with most PIBD patients developing CRC at 25 years of age1. Interestingly, mutations in TP53, a tumour suppressor gene, have been found to occur more frequently in patients with IBD-CRC compared to those with sporadic-CRC or IBD without dysplasia3. Mutations in TP53 may not only increase a patients general susceptibility to CRC but may also accelerate its development by contributing to excessive inflammation4. Our patient’s treatment refractory clinical course and transition in IBD diagnosis from UC to CD highlights the complexity of VEO-IBD management. While rare in pediatric patients, the development of CRC is a life-threatening risk and it should be considered in patients with prolonged and severely refractory IBD with concomitant autoimmune liver disease. Our patient’s young age at the time of CRC diagnosis emphasizes the need for vigilant yearly endoscopic screening and development of pediatric guidelines for dysplasia monitoring in this high risk population. Further research is needed to evaluate the role of genetic variant screening in CRC risk stratification. References: 1. Aardoom MA, et al. Inflamm Bowel Dis. 2018;24(4):732–741. 2. Soetikno RM, et al. Gastrointest Endosc. 2002;56(1):48–54. 3. Yaeger R, et al. Gastroenterology. 2016;151(2):278–287. 4. Cooks T, et al. Cancer Cell. 2013;23(5):634–46.
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Catassi, G., G. D'Arcangelo, L. Norsa, M. Bramuzzo, I. Hojsak, K. L. Kolho, C. Romano, et al. "P210 Long-term outcome of very early onset inflammatory bowel disease associated with primary sclerosing cholangitis: a multicenter study from the Pediatric IBD Porto Group of ESPGHAN." Journal of Crohn's and Colitis 17, Supplement_1 (January 30, 2023): i361—i362. http://dx.doi.org/10.1093/ecco-jcc/jjac190.0340.

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Abstract Background Primary sclerosing cholangitis related to inflammatory bowel disease (PSC-IBD) diagnosed under the age of 6 years (i.e., VEO-IBD) may have unique characteristics and disease course. We aimed to analyze the characteristics and natural history of children with VEO PSC-IBD and compare them to children diagnosed with PSC-IBD at an older age. Methods This was a multicenter, retrospective, study evaluating patients diagnosed with both IBD and PSC before (VEO-PSC-IBD) or after the age of 6 years (PSC-IBD), followed at 14 centers affiliated with the Porto IBD Interest group of ESPGHAN. Demographic, clinical, laboratory, endoscopic, and imaging data were collected at baseline and every six months thereafter for a minimum follow-up of 12 months. IBD-related (clinical remission, need for systemic steroids, therapy escalation and surgery) and PSC-related outcomes (biliary and portal hypertensive complications, need for treatment escalation and liver transplantation, cholangiocarcinoma, and death) were analyzed at 1, 3, and 5 years. Results A total of 69 children with both IBD and PSC were included: 28 with VEO PSC-IBD [median age 5.2 (3.7-5.9) years, 21 UC (75%), 4 IBDU (14%) and 3 (15%) CD] and 41 with PSC-IBD [median age 15.7 (13.3-16.9) years, 34 UC (83%), 6 IBDU (1.5%) and 1 (0.2%) CD]. IBD was diagnosed prior to PSC in 28 of the 69 patients (40%), simultaneously in 30 (43%), and after PSC in 11 (16%), with no significant differences between VEO PSC-IBD and PSC-IBD. Most patients with UC presented with extensive disease at diagnosis (89% in VEO PSC-UC vs. 89% in PSC-UC, p = 0.72). Both groups presented most often with mild intestinal disease at diagnosis (mean PUCAI of VEO IBD-PSC 34±16, vs 31±19 of IBD-PSC, p=0.11; mean PCDAI 31±33 vs. 21±27, respectively, p=0.14). A higher number of VEO-IBD-PSC patients were diagnosed with autoimmune sclerosing cholangitis than older children [24 (86%) vs. 27 (66%) PSC-IBD, p=0.04], whereas no other differences were found for PSC-related variables. During follow-up, no significant differences were found in major IBD outcomes. The risk of developing biliary strictures and escalating therapy to vancomycin from ursodeoxycholic acid was lower in the VEO-PSC-IBD group (Figure 1 and 2, Log-rank p=0.02 and p=0.02), while no difference was found for portal hypertension and liver transplantation at 5-year follow-up. No cases of cholangiocarcinoma or death were reported. Conclusion IBD-PSC has similar baseline characteristics whether diagnosed as VEO-IBD or thereafter. However, a milder disease course in terms of biliary complications and the need for PSC-related therapy escalation, with an overall mild intestinal disease at presentation in all patients, characterize this specific subcohort of patients.
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Jardine, S., G. Leung, C. Guo, R. Murchie, N. Dhingani, N. Warner, J. Pan, and A. Muise. "A99 RESCUING TTC7A MUTANT PHENOTYPES ASSOCIATED WITH VERY EARLY ONSET INFLAMMATORY BOWEL DISEASE (VEO-IBD)." Journal of the Canadian Association of Gastroenterology 1, suppl_2 (February 2018): 147–48. http://dx.doi.org/10.1093/jcag/gwy009.099.

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Kelsen, Judith R., Jodie Ouahed, Waldo A. Spessott, Kameron Kooshesh, Maria L. Sanmillan, Noor Dawany, Kathleen E. Sullivan, et al. "25 MUTATIONS IN STXBP3 CONTRIBUTE TO VERY EARLY ONSET OF IBD, IMMUNODEFICIENCY AND HEARING LOSS." Gastroenterology 154, no. 1 (January 2018): S40—S41. http://dx.doi.org/10.1053/j.gastro.2017.11.120.

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45

Kammermeier, Jochen, Lucy Howarth, Chiara Bacchelli, Suzanne Drury, Bonita Dyball, Sibongile N. Chadokufa, Osvaldo Borrelli, et al. "Mo1979 Very Early Onset IBD: Phenotype-Genotype Characteristics and Treatment With Hematopoietic Stem Cell Transplantation." Gastroenterology 144, no. 5 (May 2013): S—709. http://dx.doi.org/10.1016/s0016-5085(13)62631-1.

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46

Kelsen, Judith R., Jodie Ouahed, Waldo Spessott, Kameron Kooshesh, Maria Sanmillan, Noor Dawany, Kathleen E. Sullivan, et al. "Sa2008 - Mutations in Stxbp3 Contribute to Very Early Onset of IBD Immunodeficieny and Hearing Loss." Gastroenterology 154, no. 6 (May 2018): S—445. http://dx.doi.org/10.1016/s0016-5085(18)31744-x.

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47

Shim, Jung Ok, and Jeong Kee Seo. "Very early-onset inflammatory bowel disease (IBD) in infancy is a different disease entity from adult-onset IBD; one form of interleukin-10 receptor mutations." Journal of Human Genetics 59, no. 6 (May 1, 2014): 337–41. http://dx.doi.org/10.1038/jhg.2014.32.

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48

Eindor, A., L. Meleady, L. Alam, K. Gena, Z. Hamilton, S. Lawrence, and K. Jacobson. "A191 TEN YEARS FOLLOW UP OF EARLY ONSET INFLAMMATORY BOWEL DISEASE PATIENTS- A SINGLE CENTER RETROSPECTIVE COHORT STUDY." Journal of the Canadian Association of Gastroenterology 4, Supplement_1 (March 1, 2021): 207–9. http://dx.doi.org/10.1093/jcag/gwab002.189.

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Abstract Background Early onset inflammatory bowel disease (EOIBD) and Very early onset inflammatory bowel disease (VEOIBD) prevalence has been increasing over the last decades. These young patients have been known to have special disease characteristics and disease location. Although it is known that only a low percentage of these patients require biologic treatment after diagnosis, there is only scarce evidence about their long- term outcome and biologic requirements. Aims To assess the ten year outcome of early onset and very early onset IBD patients. Methods We retrospectively reviewed IBD patients diagnosed under 10 years of age, between January 2005 and December 2009, from the British Columbia (BC) Pediatric IBD database. Disease characteristics and symptoms at diagnosis were documented. The disease location and severity at diagnosis were documented according to the Paris classification. Data collected retrospectively included a ten year treatment follow up period, number of hospitalizations, corticosteroid courses and surgeries. These parameters were documented at three time points: after the first year, after five years and ten years. Results 68 patients under the age of 10 were diagnosed with IBD during the study period. 2 patients failed to meet inclusion criteria and were excluded. Median age at diagnosis was 6.06 (IQR 4.5–8.6). 47.7% of patients had Crohn’s disease and 71.2% were males. 63 patients completed the 5 year follow up, and 52 the 10-year period due to lack of follow up or transfer to adult care. After the first year of follow up 0% patients in the VEOIBD group and 5% patients in the EOIBD group were treated with biologic treatment, whereas after the 10-year period 42.3% and 29.6% of patients were treated with biologic therapy respectively (p=0.282). Overall, 4 patients underwent colectomy and 2 a small bowel resection. Conclusions Although the percentage of VEIBD and EOIBD patients receiving biologic treatment after ten years is higher than after the first year, it is still lower than what is reported in the literature in older pediatric IBD patients and adults. Funding Agencies None
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Lega, Sara, Alessia Pin, Serena Arrigo, Cristina Cifaldi, Martina Girardelli, Anna Monica Bianco, Monica Malamisura, et al. "Diagnostic Approach to Monogenic Inflammatory Bowel Disease in Clinical Practice: A Ten-Year Multicentric Experience." Inflammatory Bowel Diseases 26, no. 5 (August 3, 2019): 720–27. http://dx.doi.org/10.1093/ibd/izz178.

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Abstract Background and aims Multiple monogenic disorders present as very early onset inflammatory bowel disease (VEO-IBD) or as IBD with severe and atypical features. Establishing a genetic diagnosis may change patients’ management and prognosis. In this study, we describe the diagnostic approach to suspected monogenic IBD in a real clinical setting, discussing genetic and phenotypic findings and therapeutic implications of molecular diagnosis. Methods Information of patients with VEO-IBD and early onset IBD with severe/atypical phenotypes (EO-IBD s/a) managed between 2008–2017 who underwent a genetic workup were collected. Results Ninety-three patients were included, and 12 (13%) reached a genetic diagnosis. Candidate sequencing (CS) was performed in 47 patients (50%), and next generation sequencing (NGS) was performed in 84 patients (90%). Candidate sequencing had a good diagnostic performance only when guided by clinical features specific for known monogenic diseases, whereas NGS helped finding new causative genetic variants and would have anticipated one monogenic diagnosis (XIAP) and consequent bone marrow transplant (BMT). Patients with monogenic IBD more frequently were male (92% vs 54%; P = 0.02), had extraintestinal findings (100% vs 34%; P &lt; 0.001), and had disease onset ≤1 month of life (25% vs 1%; P = 0.006). Genetic diagnosis impacted patient management in 11 patients (92%), 7 of whom underwent BMT. Conclusion A genetic diagnosis can be established in a significant proportion of suspected monogenic IBD and has an impact on patients’ management. Candidate sequencing may be deployed when clinical findings orientate toward a specific diagnosis. Next generation sequencing should be preferred in patients with nonspecific phenotypes.
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50

Joosse, Maria E., Fabienne Charbit-Henrion, Remy Boisgard, Rolien C. Raatgeep, Dicky J. Lindenbergh-Kortleve, Léa M. M. Costes, Sandrine Nugteren, et al. "Duplication of the IL2RA locus causes excessive IL-2 signaling and may predispose to very early onset colitis." Mucosal Immunology 14, no. 5 (July 5, 2021): 1172–82. http://dx.doi.org/10.1038/s41385-021-00423-5.

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AbstractSingle genetic mutations predispose to very early onset inflammatory bowel disease (VEO-IBD). Here, we identify a de novo duplication of the 10p15.1 chromosomal region, including the IL2RA locus, in a 2-year-old girl with treatment-resistant pancolitis that was brought into remission by colectomy. Strikingly, after colectomy while the patient was in clinical remission and without medication, the peripheral blood CD4:CD8 ratio was constitutively high and CD25 expression was increased on circulating effector memory, Foxp3+, and Foxp3neg CD4+ T cells compared to healthy controls. This high CD25 expression increased IL-2 signaling, potentiating CD4+ T-cell-derived IFNγ secretion after T-cell receptor (TCR) stimulation. Restoring CD25 expression using the JAK1/3-inhibitor tofacitinib controlled TCR-induced IFNγ secretion in vitro. As diseased colonic tissue, but not the unaffected duodenum, contained mainly CD4+ T cells with a prominent IFNγ-signature, we hypothesize that local microbial stimulation may have initiated colonic disease. Overall, we identify that duplication of the IL2RA locus can associate with VEO-IBD and suggest that increased IL-2 signaling predisposes to colonic intestinal inflammation.
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