Phenotypic concordance in familial inflammatory bowel disease (IBD). Results of a nationwide IBD Spanish database
| Autor: | Ángel Ponferrada, José Luis Cabriada, Esther Garcia-Planella, Elena Ricart, G. Ceña, Jordi Guardiola, Maria Esteve, Míriam Mañosa, Ana Gutiérrez, Javier P. Gisbert, Eugeni Domènech, Miguel Montoro, Olga Merino, Mariam Aguas, Eduard Cabré, Valle García-Sánchez |
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| Rok vydání: | 2014 |
| Předmět: |
Adult
Male Familial aggregation medicine.medical_specialty Adolescent Concordance Constriction Pathologic Disease computer.software_genre digestive system Inflammatory bowel disease Gastroenterology Young Adult Crohn Disease Internal medicine Intestinal Fistula Prevalence Humans Medicine Genetic Predisposition to Disease Age of Onset Crohn's disease Database business.industry Family aggregation General Medicine Middle Aged medicine.disease Phenotype Ulcerative colitis digestive system diseases Pedigree Spain Anticipation (genetics) Colitis Ulcerative Female business computer |
| Zdroj: | Journal of Crohns & Colitis r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau instname Journal of Crohn's & colitis r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe |
| ISSN: | 1873-9946 |
| DOI: | 10.1016/j.crohns.2013.12.005 |
| Popis: | 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 (K 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 (kappa = 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. (C) 2013 European Crohn's and Colitis Organisation. Published by Elsevier B.V. All rights reserved. |
| Databáze: | OpenAIRE |
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