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* = Presenting author

P494 Phenotypic analysis revealed features of disease severity in familial versus sporadic cases of inflammatory bowel disease

G. Maurizi, M. Giannotta*, V. Almerigogna, S. Biagini, A. Cozzi, G. Macrì, M. Milla

AOU Careggi, Regional Referral Centre of Inflammatory Bowel Disease - Clinical Gastroenterology Division, Florence, Italy


Familial aggregation in inflammatory bowel disease (IBD) has already been documented, although data regarding differences in phenotypic traits between familial and non-familial cases are controversial. The aim of this study is to evaluate differences in disease presentation and behaviour between familial and sporadic cases of IBD.


Familial IBD was defined as the existence of one or more first, second, or third degree relatives affected with either Crohn’s disease (CD) or ulcerative colitis (UC). We revised our centre’s database and matched IBD familial cases with sporadic cases. The 2 groups were homogeneous for sex, age, and disease duration. We investigated disease clinical phenotype including IBD type; age at diagnosis; disease location, extent, and behaviour (according to the Montreal classification); and presence of extra-intestinal immune-related manifestations (EIMs). We also looked at pharmacological history and surgical requirements during follow-up.


We enrolled 231 familial (123 CD and 108 UC) and 460 non-familial (331 CD and 130 UC) IBD patients. Patients’ age at disease onset was not different between familial and sporadic IBD (33.4 vs 34.8 years, p = 0.2). No difference was found in UC extension or CD localisation at diagnosis between the 2 groups, but familial CD had higher percentage of stricturing behaviour (45.5% vs 12.3%, p = 0.002) and perianal disease at onset (13.8% vs 6.3%, p = 0.02) when compared with sporadic cases. Prevalence of EIMs was higher in familial vs sporadic CD (35.8% vs 23.6%, p = 0.01). Regarding pharmacological history, UC familial cases were more frequently treated with steroids at onset than non-familial cases (65.4% vs 41.2%, p < 0.01), the need of biological therapy was more frequent in familial cases than in non-familial CD cases (58.2% vs 35%, p < 0.0001). The need for abdominal major surgery was more frequent in CD familial than non-familial cases (58.3% vs 26.4%, p < 0.0001), with a higher rate of patients who underwent multiple surgery (34.2% vs 12.6%, p = 0.002) in the first group.


Results from our study show features indicative of a more severe disease course, in terms of perianal disease and stricturing disease at onset, EIMs, need of biological therapy, recurrence to surgery, and multiple surgery, when comparing familial versus sporadic cases of IBD. Familial aggregation should be taken into account when evaluating predictive factors for disease severity, especially in CD patients.