Background and Aims Over 80 monogenic causes of very early onset inflammatory bowel disease (VEOIBD) have been identified. Prior reports of the natural history of VEOIBD have not considered monogenic disease status. The objective of this study is to describe clinical phenotypes and outcomes in a large single-center cohort of patients with VEOIBD and universal access to whole exome sequencing (WES). Methods Patients receiving IBD care at a single center were prospectively enrolled in a longitudinal data repository starting in 2012. WES was offered with enrollment. Enrolled patients were filtered by age of diagnosis <6 years to comprise VEOIBD cohort. Monogenic disease was identified by filtering proband variants for rare, loss-of-function or missense variants in known VEOIBD genes inherited according to standard Mendelian inheritance patterns. Results This analysis included 216 VEOIBD patients, followed for a median of 5.8 years. Seventeen patients (7.9%) had monogenic disease. Patients with monogenic IBD were younger at diagnosis and were more likely to have Crohn’s disease phenotype with higher rates of stricturing and penetrating disease and extraintestinal manifestations. Patients with monogenic disease were also more likely to experience outcomes of ICU hospitalization, gastrostomy tube, total parenteral nutrition use, stunting at 3-year follow-up, hematopoietic stem cell transplant, and death. Forty-one patients (19.0%) had infantile-onset disease. After controlling for monogenic disease, patients with infantile-onset IBD did not have increased risk for most severity outcomes. Conclusions Monogenic disease is an important driver of disease severity in VEOIBD. WES is a valuable tool in prognostication and management of VEOIBD.
Purpose of Review The COVID-19 pandemic helped us understand that telemedicine provides an alternative way to manage patients remotely, with an added benefit of saving time and travel costs. However, barriers may exist in an older population of patients such as inadequate technology availability and knowledge, and lack of internet connectivity. This systematic review and analysis of data at an academic medical center examines the current literature and investigates the efficacy of telemedicine for older adults requiring gastrointestinal care. Recent Findings In the systematic review, we included 22 manuscripts from an initial 120 that were identified based on inclusion and exclusion criteria. In this existing literature, telemedicine visits were equivalent or better than in-person visits based on many metrics, including patient satisfaction, time and money saved, and standard patient outcomes. At a rural academic medical center, there was a steady decrease in the failure rate of telemedicine visits from April 2020 to May 2022 in all age groups, including the 65 + age group, from 17% in April 2020 to 3% in May 2022. Summary Telemedicine offers a comparable alternative to in-person visits that is convenient, low-cost, and does not compromise quality of care for older patients obtaining GI care. The COVID-19 pandemic has accelerated progress and uptake of telemedicine, and the successful use by all ages including older patients opens the broader conversation about the continued use of telemedicine for care in various areas of medicine.
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