Abstract

Abstract Background Inflammatory bowel disease (IBD) is a group of chronic inflammatory conditions of the gastrointestinal tract. The two main types of IBD are Crohn's disease (CD) and ulcerative colitis (UC). Both conditions have a complex and multifactorial etiology, involving a combination of genetic, environmental, and immunological factors. If there is a family history of IBD, particularly in first-degree relatives (parents, siblings), there may be a higher risk for other family members to develop the disease. A retrospective cohort study was conducted between 2010 and 2022, to assess clinical features between familial versus sporadic inflammatory bowel disease Methods This observational monocentric retrospective study, includes 903 patients: 794 with IBD, with and without familiarity, referring to the Gastroenterology Service of the "Azienda Sanitaria Universitaria del Friuli Centrale". 10,6% of the patients have familiarity (54,2% with a first degree and 44,8% with a second degree relative). Table 1 provides data on patients and disease characteristics. Results The mean age of patients with familiarity for IBD was significantly lower compared to subjects without familiarity. Unexpectedly in our cohort familiarity in CD vs UC subjects were similar (respectively 10.7% vs 11.8%). A slight increase of women in the group with familiarity was detected although not statistically significant. EIMs occurred predominantly in the cohort with familiarity but the difference was not statistical significant. IBD subjects with familiarity need less surgery if compared with those with non familiarity (respectively 14,6% vs 18,2%), but the difference was no significant. Biological drugs have been used earlier and more frequently in patients with familiarity compared with those with not familiarity (29,3% vs 38,5%) although also in this case non significant. No differences on IBD phenotype have been noted between familial IBD vs sporadic IBD. Main data described in Table 2. Conclusion In this retrospective cohort study, family history of IBD was present in similar percentage between CD and UC. The only significant data in our cohort was the early age of onset of IBD in patients with familiarity. However IBD familiarity was associated with a trend of decreased risk of surgical procedures, increased use of biological medications and a trend for developing EIMs. While some data, for example the earlier and larger use of biologics could explain the less need of surgery in IBD patients, larger cohorts are essential to define the similarities and differences more robustly between familial and sporadic IBD.

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