title: Disease severity in familial cases of IBD.
abstract: BACKGROUND
  Phenotypic traits of familial IBD relative to sporadic cases are controversial, probably related to limited statistical power of published evidence.
  
  
  OBJECTIVE
  To know if there are phenotype differences between familial and sporadic IBD, evaluating the prospective Spanish registry (ENEIDA) with 11,983 cases.
  
  
  METHODS
  5783 patients (48.3%) had ulcerative colitis (UC) and 6200 (51.7%) Crohn's disease (CD). Cases with one or more 1st, 2nd or 3rd degree relatives affected by UC/CD were defined as familial case.
  
  
  RESULTS
  In UC and CD, familial cases compared with sporadic cases had an earlier disease onset (UC: 33 years [IQR 25-44] vs 37 years [IQR 27-49]; p<0.0001); (CD: 27 years [IQR 21-35] vs 29 years [IQR 22-40]; p<0.0001), higher prevalence of extraintestinal immune-related manifestations (EIMs) (UC: 17.2% vs 14%; p=0.04); (CD: 30.1% vs 23.6%; p<0.0001). Familial CD had higher percentage of ileocolic location (42.7% vs 51.8%; p=0.0001), penetrating behavior (21% vs 17.6%; p=0.01) and perianal disease (32% vs 27.1%; p=0.003). Differences are not influenced by degree of consanguinity.
  
  
  CONCLUSIONS
  When a sufficiently powered cohort is evaluated, familial aggregation in IBD is associated to an earlier disease onset, more EIMs and more severe phenotype in CD. This feature should be taken into account at establishing predictors of disease course.
authors.affiliation: Department of Gastroenterology, Hospital del Mar, IMIM (Institut Hospital del Mar d'Investigacions Mèdiques), Pompeu Fabra University, Barcelona, Catalonia, Spain. Electronic address: mandreu@parcdeisalutmar.cat.
authors.forename: M
authors.initials: M
authors.lastname: Andreu
authors.affiliation: Department of Gastroenterology, Hospital del Mar, IMIM (Institut Hospital del Mar d'Investigacions Mèdiques), Pompeu Fabra University, Barcelona, Catalonia, Spain.
authors.forename: L
authors.initials: L
authors.lastname: Márquez
authors.affiliation: Department of Gastroenterology, Hospital Germans Trias, Badalona, Spain; Centro de Investigación Biomedica en Red en Enfermedades Hepáticas y Digestivas (Ciberehd), Spain.
authors.forename: E
authors.initials: E
authors.lastname: Domènech
authors.affiliation: Gastroenterology Units of Hospital de La Princesa and Instituto de Investigación Sanitaria Princesa, Madrid, Spain; Centro de Investigación Biomedica en Red en Enfermedades Hepáticas y Digestivas (Ciberehd), Spain.
authors.forename: J P
authors.initials: JP
authors.lastname: Gisbert
authors.affiliation: Department of Gastroenterology, Hospital Reina Sofía, Córdoba, Spain.
authors.forename: V
authors.initials: V
authors.lastname: García
authors.affiliation: Department of Gastroenterology, Hospital General Universitario Gregorio Marañón, Madrid, Spain.
authors.forename: I
authors.initials: I
authors.lastname: Marín-Jiménez
authors.affiliation: Department of Gastroenterology, Bellvitge University Hospital, Hospitalet de Llobregat, Barcelona, Spain.
authors.forename: M
authors.initials: M
authors.lastname: Peñalva
authors.affiliation: Department of Gastroenterology, University Hospital Clínico, Zaragoza, Spain; Centro de Investigación Biomedica en Red en Enfermedades Hepáticas y Digestivas (Ciberehd), Spain.
authors.forename: F
authors.initials: F
authors.lastname: Gomollón
authors.affiliation: Department of Gastroenterology, University Hospital Parc Tauli, Sabadell, Spain; Centro de Investigación Biomedica en Red en Enfermedades Hepáticas y Digestivas (Ciberehd), Spain.
authors.forename: X
authors.initials: X
authors.lastname: Calvet
authors.affiliation: Department of Gastroenterology, Hospital de Cruces, Barakaldo, Spain.
authors.forename: O
authors.initials: O
authors.lastname: Merino
authors.affiliation: Department of Gastroenterology, Hospital Sant Pau, Barcelona, Spain; Centro de Investigación Biomedica en Red en Enfermedades Hepáticas y Digestivas (Ciberehd), Spain.
authors.forename: E
authors.initials: E
authors.lastname: Garcia-Planella
authors.affiliation: Department of Gastroenterology, Hospital General Universitario de Elche, Alicante, Spain.
authors.forename: N
authors.initials: N
authors.lastname: Vázquez-Romero
authors.affiliation: Department of Gastroenterology, Hospital Mutua de Terrassa, Barcelona, Catalonia, Spain; Centro de Investigación Biomedica en Red en Enfermedades Hepáticas y Digestivas (Ciberehd), Spain.
authors.forename: M
authors.initials: M
authors.lastname: Esteve
authors.affiliation: Department of Gastroenterology, Hospital Universitario La Fe, Valencia, Spain; Centro de Investigación Biomedica en Red en Enfermedades Hepáticas y Digestivas (Ciberehd), Spain.
authors.forename: P
authors.initials: P
authors.lastname: Nos
authors.affiliation: Department of Gastroenterology, Hospital General, Alicante, Spain; Centro de Investigación Biomedica en Red en Enfermedades Hepáticas y Digestivas (Ciberehd), Spain.
authors.forename: A
authors.initials: A
authors.lastname: Gutiérrez
authors.affiliation: Department of Gastroenterology, Hospital Universitario Puerta de Hierro, Madrid, Spain.
authors.forename: I
authors.initials: I
authors.lastname: Vera
authors.affiliation: Deparment of Gastroenterology, Hospital Galdakao, Viscaya, Spain.
authors.forename: J L
authors.initials: JL
authors.lastname: Cabriada
authors.affiliation: Department of Gastroenterology, Hospital La Paz, Madrid, Spain.
authors.forename: M D
authors.initials: MD
authors.lastname: Martín
authors.affiliation: Department of Gastroenterology, Hospital del Mar, IMIM (Institut Hospital del Mar d'Investigacions Mèdiques), Pompeu Fabra University, Barcelona, Catalonia, Spain.
authors.forename: A
authors.initials: A
authors.lastname: Cañas-Ventura
authors.affiliation: Department of Gastroenterology, Hospital Clínic, IDIBAPS, University of Barcelona, Barcelona, Catalonia, Spain; Centro de Investigación Biomedica en Red en Enfermedades Hepáticas y Digestivas (Ciberehd), Spain.
authors.forename: J
authors.initials: J
authors.lastname: Panés
mesh_terms: D000328:Adult; D017668:Age of Onset; D001004:Anus Diseases / Q000209:etiology; D003093:Colitis, Ulcerative / Q000235:genetics* / Q000276:immunology / Q000473:pathology*; D003106:Colon; D003424:Crohn Disease / Q000235:genetics* / Q000276:immunology / Q000473:pathology*; D005260:Female; D006801:Humans; D007082:Ileum; D008297:Male; D010641:Phenotype; D012042:Registries; D012720:Severity of Illness Index; D013030:Spain; D055815:Young Adult
keywords: Familial Crohn's disease;; Familial aggregation in IBD; Ulcerative colitis phenotypes