Background & Aims: Disease outcome has been found to be poorer in familial inflammatory bowel disease (IBD) than in sporadic forms, but assessment of phenotypic concordance in familial IBD provided controversial results. We assessed the concordance for disease type and phenotypic features in IBD families.
Methods: Patients with familial IBD were identified from the IBD Spanish database ENEIDA. Families in whom at least two members were in the database were selected for concordance analysis (κ index). Concordance for type of IBD [Crohn's disease (CD) vs. ulcerative colitis (UC)], as well as for disease extent, localization and behaviour, perianal disease, extraintestinal manifestations, and indicators of severe disease (i.e., need for immunosuppressors, biological agents, and surgery) for those pairs concordant for IBD type, were analyzed.
Results: 798 out of 11,905 IBD patients (7%) in ENEIDA had familial history of IBD. Complete data of 107 families (231 patients and 144 consanguineous pairs) were available for concordance analyses. The youngest members of the pairs were diagnosed with IBD at a significantly younger age (p<0.001) than the oldest ones. Seventy-six percent of pairs matched up for the IBD type (κ=0.58; 95%CI: 0.42-0.73, moderate concordance). There was no relevant concordance for any of the phenotypic items assessed in both diseases.
Conclusions: Familial IBD is associated with diagnostic anticipation in younger individuals. Familial history does not allow predicting any phenotypic feature other than IBD type.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.crohns.2013.12.005 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Ophthalmological manifestations in inflammatory bowel disease under the watchful eye of a gastroenterologist from a tertiary centre.
Prz Gastroenterol
November 2024
Department of Gastroenterology and Internal Medicine, National Medical Institute of the Ministry of the Inferior and Administration, Warsaw, Poland.
Introduction: Ophthalmological manifestations (O-EIM) are one of the extraintestinal manifestations (EIM) of inflammatory bowel disease (IBD), although their frequency and potential relationship with disease activity and treatment remain underestimated.
Aim: The aim of this screening questionnaire was to assess the number of EIM, including O-EIM, among patients with IBD.
Material And Methods: 436 patients with IBD and 102 patients without IBD were included in this single-centre retrospective study.
The role of intestinal ultrasound with colour Doppler in predicting the response to biologic therapy in inflammatory bowel disease patients.
Prz Gastroenterol
November 2023
Department of Internal Medicine, Hepato-gastroenterology Unit, Faculty of Medicine, Assiut University, Assiut, Egypt.
Introduction: Inflammatory bowel disease patients are exposed to frequent procedures and hospital admissions as well as recurrent need for radiological examinations with a high risk of exposure to radiation and contrast.
Aim: Our objective was to evaluate the role of a combination of both intestinal ultrasound (IUS) and colour Doppler with different parameters for monitoring changes in inflammation over time and to reveal their potential role in the assessment of response to biologic therapy in inflammatory bowel disease (IBD) patients.
Material And Methods: Before the induction of biological therapy, IUS together with colour Doppler of the intestine was conducted.
[Functional disorders in chronic inflammatory bowel disease: the gut-brain axis].
Inn Med (Heidelb)
January 2025
Medizinische Klinik 2, Ludwig-Maximilians-Universität München, Marchioninistraße 15, 83477, München, Deutschland.
Background: In patients with inflammatory bowel diseases (IBD), functional complaints frequently persist after the clearing of inflammation and are clinically difficult to distinguish from symptoms of inflammation. In recent years, the influence of bidirectional communication between the gut and brain on gut physiology, emotions, and behavior has been demonstrated.
Research Questions: What mechanisms underlie the development of functional gastrointestinal complaints in patients with irritable bowel syndrome (IBS) and IBD? What therapeutic approaches arise from this?
Materials And Methods: Narrative review.
RNF128 deficiency in macrophages promotes colonic inflammation by suppressing the autophagic degradation of S100A8.
Cell Death Dis
January 2025
Department of Gastrointestinal Surgery, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, 450052, China.
Macrophages play important roles in maintaining intestinal homeostasis and in the pathogenesis of inflammatory bowel diseases (IBDs). However, the underlying mechanisms that govern macrophage-mediated inflammation are still largely unknown. In this study, we report that RNF128 is downregulated in proinflammatory macrophages.
View Article and Find Full Text PDFGenetically predict the association between 91 human blood cell perturbation phenotypes and IBD: A Mendelian randomization study.
Medicine (Baltimore)
November 2024
Department of Gastroenterology, Ruikang Hospital of Guangxi Traditional Chinese Medical University, Nanning, Guangxi, China.
Inflammatory bowel disease (IBD), encompassing Crohn disease and ulcerative colitis, is a group of persistent and recurrent gastrointestinal disorders. Despite the prevalence of these conditions, no studies have been conducted to examine the connection between altered human blood cell phenotypes and the underlying mechanisms of IBD pathogenesis. By utilizing summary statistics from genome-wide association studies, we executed a systematic two-sample Mendelian randomization (MR) investigation on 91 genetically determined blood cell perturbation traits in relation to 3 separate IBD phenotypes.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!