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J Crohns Colitis. 2014 Mar;8(3):234-9. doi: 10.1016/j.crohns.2013.08.010. Epub 2013 Sep 7.

Disease severity in familial cases of IBD.

Author information

1
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.
2
Department of Gastroenterology, Hospital del Mar, IMIM (Institut Hospital del Mar d'Investigacions Mèdiques), Pompeu Fabra University, Barcelona, Catalonia, Spain.
3
Department of Gastroenterology, Hospital Germans Trias, Badalona, Spain; Centro de Investigación Biomedica en Red en Enfermedades Hepáticas y Digestivas (Ciberehd), Spain.
4
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.
5
Department of Gastroenterology, Hospital Reina Sofía, Córdoba, Spain.
6
Department of Gastroenterology, Hospital General Universitario Gregorio Marañón, Madrid, Spain.
7
Department of Gastroenterology, Bellvitge University Hospital, Hospitalet de Llobregat, Barcelona, Spain.
8
Department of Gastroenterology, University Hospital Clínico, Zaragoza, Spain; Centro de Investigación Biomedica en Red en Enfermedades Hepáticas y Digestivas (Ciberehd), Spain.
9
Department of Gastroenterology, University Hospital Parc Tauli, Sabadell, Spain; Centro de Investigación Biomedica en Red en Enfermedades Hepáticas y Digestivas (Ciberehd), Spain.
10
Department of Gastroenterology, Hospital de Cruces, Barakaldo, Spain.
11
Department of Gastroenterology, Hospital Sant Pau, Barcelona, Spain; Centro de Investigación Biomedica en Red en Enfermedades Hepáticas y Digestivas (Ciberehd), Spain.
12
Department of Gastroenterology, Hospital General Universitario de Elche, Alicante, Spain.
13
Department of Gastroenterology, Hospital Mutua de Terrassa, Barcelona, Catalonia, Spain; Centro de Investigación Biomedica en Red en Enfermedades Hepáticas y Digestivas (Ciberehd), Spain.
14
Department of Gastroenterology, Hospital Universitario La Fe, Valencia, Spain; Centro de Investigación Biomedica en Red en Enfermedades Hepáticas y Digestivas (Ciberehd), Spain.
15
Department of Gastroenterology, Hospital General, Alicante, Spain; Centro de Investigación Biomedica en Red en Enfermedades Hepáticas y Digestivas (Ciberehd), Spain.
16
Department of Gastroenterology, Hospital Universitario Puerta de Hierro, Madrid, Spain.
17
Deparment of Gastroenterology, Hospital Galdakao, Viscaya, Spain.
18
Department of Gastroenterology, Hospital La Paz, Madrid, Spain.
19
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.

Abstract

BACKGROUND:

Phenotypic traits of familial IBD relative to sporadic cases are controversial, probably related to limited statistical power of published evidence.

AIM:

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.

CONCLUSION:

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.

KEYWORDS:

Familial Crohn's disease;; Familial aggregation in IBD; Ulcerative colitis phenotypes

PMID:
24016462
DOI:
10.1016/j.crohns.2013.08.010
[Indexed for MEDLINE]
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