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Journal of Crohn's and Colitis
  2018 Apr 27;12(5):525-531.  
  doi: 10.1093/ecco-jcc/jjx154.  
  Differences in Clinical Course, Genetics, and the Microbiome Between Familial and Sporadic Inflammatory Bowel Diseases.  
  Borren NZ, Conway G, Garber JJ, Khalili H, Budree S, Mallick H, Yajnik V, Xavier RJ, Ananthakrishnan AN  



Family history is the strongest risk factor for developing Crohn's disease [CD] or ulcerative colitis [UC]. We investigated whether the proximity of relationship with the affected relative and concordance for type of inflammatory bowel disease [IBD] modifies the effect of family history on phenotype and disease severity.


This cross-sectional study included patients with a confirmed diagnosis of IBD in a clinical registry. Family history of IBD was assessed by a questionnaire ascertaining presence of disease in a first-first-degree, second-second-degree or distant relative. Our primary outcomes were disease phenotype as per the Montreal classification and severity measured by need for immunomodulator, biologic, or surgical therapy. Genotyping was performed on the Immunochip and faecal samples were subjected to 16S rRNA microbiome sequencing.


Our study included 2136 patients with IBD [1197 CD, 939 UC]. Just under one-third [32%] of cases ere familial IBD [17% first-degree, 21% second-degree]. Familial IBD was diagnosed at an earlier age, both in CD [26 vs 28 years, p = 0.0006] and UC [29 vs 32 years, p = 0.01]. Among CD patients, a positive family history for CD was associated with an increased risk for complicated disease in the presence of an affected family member (odds ratio [OR] 1.48, 95% confidence interval [CI] 1.07-2.03). However, this effect was significant only for first-degree relatives [OR 1.82, 95% CI 1.19-2.78].


A family history of CD in first-degree relatives was associated with complicated CD. Family history discordant for type of IBD or in distant relatives did not influence disease phenotype or natural history.


Question posée
Existe-t-il des différences cliniques, génétiques ou concernant le microbiome dans les MICI familiales comparées aux MICI sporadiques ?
Question posée
Oui, dans les formes familiales 1- les MICI sont diagnostiquées à un plus jeune âge 2- les complications des maladied de Crohn sont plus fréquentes en cas d’ATCD de MICI au premier degré

Ces données suggèrent qu’Une prise en charge plus agressive pourrait être justifiée dans les formes familiales de maladie de Crohn. Il ne s’agit néanmoins de données préliminaires qui doivent être confirmées.