Eduard Cabré1, Míriam Mañosa2, Valle García-Sánchez3, Ana Gutiérrez4, Elena Ricart5, Maria Esteve6, Jordi Guardiola7, Mariam Aguas8, Olga Merino9, Angel Ponferrada10, Javier P Gisbert11, Esther Garcia-Planella12, Gloria Ceña13, José L Cabriada14, Miguel Montoro15, Eugeni Domènech2. 1. Hospital Universitari Germans Trias i Pujol, Badalona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBEREHD), Madrid, Spain. Electronic address: ecabre.germanstrias@gencat.cat. 2. Hospital Universitari Germans Trias i Pujol, Badalona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBEREHD), Madrid, Spain. 3. Hospital Universitario Reina Sofía, Córdoba, Spain. 4. Hospital General Universitario, Alicante, Spain. 5. Hospital Clínic, Barcelona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBEREHD), Madrid, Spain. 6. Hospital Universitari Mútua de Terrassa, Terrassa, Spain; Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBEREHD), Madrid, Spain. 7. Hospital Universitari de Bellvitge, L'Hospitalet de Llobregat, Spain. 8. Hospital Universitari La Fe, Valencia, Spain; Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBEREHD), Madrid, Spain. 9. Hospital de Cruces, Barakaldo, Spain. 10. Hospital Universitario Infanta Leonor, Madrid, Spain. 11. Hospital Universitario de La Princesa, IP, Madrid, Spain; Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBEREHD), Madrid, Spain. 12. Hospital de la Santa Creu i Sant Pau, Barcelona, Spain. 13. Hospital Royo Villanova, Zaragoza, Spain. 14. Hospital Galdakao-Usansolo, Galdakao, Spain. 15. Hospital General San Jorge, Huesca, Spain.
Abstract
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.
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.
Authors: María Pilar Ballester; David Martí; Joan Tosca; Marta Maia Bosca-Watts; Ana Sanahuja; Pablo Navarro; Isabel Pascual; Rosario Antón; Francisco Mora; Miguel Mínguez Journal: Int J Colorectal Dis Date: 2017-03-31 Impact factor: 2.571
Authors: Maria Pia Costa-Santos; Catarina Frias-Gomes; António Oliveira; João Sabino; Miriam Mañosa; Pierre Ellul; Ana Sampaio; Luisa Avedano; Salvo Leone; Jean-Frédéric Colombel; Joana Torres Journal: Ann Gastroenterol Date: 2021-02-26