Prevalence, Clinical Features, and Extraintestinal Manifestations in Patients with Familial Inflammatory Bowel Diseases

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Abstract
Background A positive family history is considered the strongest recognizable risk factor for developing inflammatory bowel diseases (IBD) and is present in 8–12% of cases. Aims To determine the prevalence of familial IBD and also to compare the clinical characteristics and extraintestinal manifestations between familial and sporadic cases. Methods We conducted a cross-sectional study based on retrospectively-prospectively collected data from a cohort of IBD patients followed in daily clinical practice. Patients with biopsy-confirmed familial and sporadic IBD aged 16–90 years old were included in the study. A comprehensive questionnaire was used to collect data on each site visit. Logistic regression analysis and chi-squared test were used. Results In total, 265 patients with IBD were included. 12.1% had a first-degree relative with IBD present (16.4% in Crohn’s disease and 5.7% in the ulcerative colitis group, P < 0.05). Familial IBD patients were mainly females, were more frequently diagnosed with Crohn’s disease and had a higher risk for hospitalization due to an IBD flare (P < 0.05), to undergo a surgical procedure (P < 0.001), to require treatment with biologic agents (P < 0.05), to develop perianal disease (P < 0.05), and extraintestinal manifestations (P < 0.05), mainly spine joint complications, erythema nodosum, and anterior uveitis. Conclusion In this study, a positive family history of IBD was present in 16.4% of Crohn’s disease and 5.7% of ulcerative colitis patients and was associated with a greater risk for hospitalization, surgical procedures, occurrence of perianal disease, need for treatment with biologic agents, and development of extraintestinal manifestations.

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