Influence of familial forms of inflammatory bowel disease on the use of immunosuppressants, biological agents, and surgery in the era of biological therapies. Results from the ENEIDA project.

BACKGROUND AND AIMS: Familial inflammatory bowel disease (IBD) history is a controversial prognostic factor in IBD. We aimed to evaluate the impact of a familial history of IBD on the use of medical and surgical treatments in the biological era. METHODS: Patients included in the prospectively maintained ENEIDA database and diagnosed with IBD after 2005 were included. Familial forms were defined as those cases with at least one first-degree relative diagnosed with IBD. Disease phenotype, the use of biological agents, or surgical treatments were the main outcomes. RESULTS: A total of 5263 patients [2627 Crohn's disease (CD); 2636 ulcerative colitis (UC)] were included, with a median follow-up of 31 months. Of these, 507 (10%) corresponded to familial forms. No clinical differences were observed between familial and sporadic IBD forms except a lower age at IBD diagnosis and a higher rate of males in familial forms of UC. In CD, the proportions of patients treated with thiopurines (54.4% vs 46.7%; P = .015) and survival time free of thiopurines (P = .009) were lower in familial forms. No differences were found regarding the use of biological agents. Concerning surgery, a higher rate of intestinal resections was observed in sporadic CD (14.8% vs 9.9%, P = .027). No differences were observed in UC. CONCLUSIONS: In the era of biological therapies, familial and sporadic forms of IBD show similar phenotypes and are managed medically in a similar way; whether these is due to lack of phenotypical differences or an effect of biological therapies is uncertain. What is already known on this topic: IBD's etiopathogenesis points to an interaction between environmental and genetic factors, being familial history a controversial prognostic factor. Biological agents use and need for surgery regarding familial or sporadic forms of IBDs present conflicting results. What this study adds: Familial and sporadic forms of IBD have similar phenotypes and are managed medically and surgically in a similar way. How this study might affect research, practice or policy: Familial aggregation should not be considered a factor associated with more aggressive disease.

Large symptomatic esophageal diverticulum.

A 72-year-old woman was referred from primary care to the gastroenterology clinic because of heartburn and occasional dysphagia for the last 8 years, with some isolated food regurgitation events and no other warning signs; she is currently asymptomatic on omeprazole. Gastroscopy revealed a dilated esophagus and food remnants with inability to reach the gastric lumen, which led to the suspicion of achalasia. The study was completed with pH-metry, which found no pathological reflux; esophageal manometry, with absence of esophageal motor abnormalities; and barium swallow, which revealed a large diverticulum on the posterior wall of the lower third of the esophagus, which had food remnants but no other changes or evidence of achalasia. Given these findings, a repeat gastroscopy was carried out that revealed a large diverticulum in the distal third of the esophagus that occluded 50 % of the esophageal lumen, with a length of 4-5 cm and abundant semi-liquid food remnants; upon aspiration of the latter a whitish mucosa with erythematous areas was revealed, as well as a 1.5-cm sliding hiatal hernia. No changes were found on advancing to the second duodenal portion. In view of the above findings and symptoms, the patient was referred to the surgery department to be evaluated for diverticulectomy.