title: Phenotypic concordance in familial inflammatory bowel disease (IBD). Results of a nationwide IBD Spanish database.
abstract: OBJECTIVE
  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.affiliation: 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.
authors.forename: Eduard
authors.initials: E
authors.lastname: Cabré
authors.affiliation: Hospital Universitari Germans Trias i Pujol, Badalona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBEREHD), Madrid, Spain.
authors.forename: Míriam
authors.initials: M
authors.lastname: Mañosa
authors.affiliation: Hospital Universitario Reina Sofía, Córdoba, Spain.
authors.forename: Valle
authors.initials: V
authors.lastname: García-Sánchez
authors.affiliation: Hospital General Universitario, Alicante, Spain.
authors.forename: Ana
authors.initials: A
authors.lastname: Gutiérrez
authors.affiliation: Hospital Clínic, Barcelona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBEREHD), Madrid, Spain.
authors.forename: Elena
authors.initials: E
authors.lastname: Ricart
authors.affiliation: Hospital Universitari Mútua de Terrassa, Terrassa, Spain; Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBEREHD), Madrid, Spain.
authors.forename: Maria
authors.initials: M
authors.lastname: Esteve
authors.affiliation: Hospital Universitari de Bellvitge, L'Hospitalet de Llobregat, Spain.
authors.forename: Jordi
authors.initials: J
authors.lastname: Guardiola
authors.affiliation: Hospital Universitari La Fe, Valencia, Spain; Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBEREHD), Madrid, Spain.
authors.forename: Mariam
authors.initials: M
authors.lastname: Aguas
authors.affiliation: Hospital de Cruces, Barakaldo, Spain.
authors.forename: Olga
authors.initials: O
authors.lastname: Merino
authors.affiliation: Hospital Universitario Infanta Leonor, Madrid, Spain.
authors.forename: Angel
authors.initials: A
authors.lastname: Ponferrada
authors.affiliation: Hospital Universitario de La Princesa, IP, Madrid, Spain; Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBEREHD), Madrid, Spain.
authors.forename: Javier P
authors.initials: JP
authors.lastname: Gisbert
authors.affiliation: Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.
authors.forename: Esther
authors.initials: E
authors.lastname: Garcia-Planella
authors.affiliation: Hospital Royo Villanova, Zaragoza, Spain.
authors.forename: Gloria
authors.initials: G
authors.lastname: Ceña
authors.affiliation: Hospital Galdakao-Usansolo, Galdakao, Spain.
authors.forename: José L
authors.initials: JL
authors.lastname: Cabriada
authors.affiliation: Hospital General San Jorge, Huesca, Spain.
authors.forename: Miguel
authors.initials: M
authors.lastname: Montoro
authors.affiliation: Hospital Universitari Germans Trias i Pujol, Badalona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBEREHD), Madrid, Spain.
authors.forename: Eugeni
authors.initials: E
authors.lastname: Domènech
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D003093:Colitis, Ulcerative / Q000453:epidemiology* / Q000235:genetics* / Q000473:pathology; D003251:Constriction, Pathologic / Q000453:epidemiology; D003424:Crohn Disease / Q000453:epidemiology* / Q000235:genetics* / Q000473:pathology; D005260:Female; D020022:Genetic Predisposition to Disease / Q000453:epidemiology; D006801:Humans; D007412:Intestinal Fistula / Q000453:epidemiology; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010641:Phenotype; D015995:Prevalence; D013030:Spain / Q000453:epidemiology; D055815:Young Adult
keywords: Concordance analysis; Crohn's disease; Familial aggregation; Inflammatory bowel disease; Ulcerative colitis