RESUMEN
BACKGROUND: Despite its prevalence and associated morbidity, we remain limited in our ability to predict the course of a patient with diverticular disease. Although several clinical and genetic risk factors have been identified, we do not know how these factors relate to one another. OBJECTIVE: Our aim was to determine whether a polygenic risk score could improve risk prediction for diverticulitis and recurrent diverticulitis compared with a model using only clinical factors. DESIGN: This is an observational study. SETTING: The study examines the predictive ability of a polygenic risk score for diverticulitis developed using prior genome-wide association studies and validated using the MyCode biobank. PATIENTS: This study included patients of European ancestry in the Geisinger Health System who were enrolled in the MyCode Community Health biobanking program. MAIN OUTCOME MEASURES: The ability of a polygenic risk score to predict diverticulosis, diverticulitis, and recurrent diverticulitis was the main outcome measure of this study. RESULTS: A total of 60,861 patients were included, of whom 9912 (16.3%) had diverticulosis or diverticulitis (5015 with diverticulosis and 4897 with diverticulitis). When divided into deciles, our polygenic risk score stratified patients by risk of both diverticulosis and diverticulitis with a 2-fold difference in disease risk between the highest and lowest deciles for diverticulitis and a 4.8-fold difference for recurrent complicated diverticulitis. When compared with clinical factors alone, our polygenic risk score was able to improve risk prediction of recurrent diverticulitis. LIMITATIONS: Our population is largely located in a single geographic region and were classified by disease status, using international classification of diseases codes. CONCLUSIONS: This predictive model stratifies patients based on genetic risk for diverticular disease. The increased frequency of recurrent disease in our high-risk patients suggests that a polygenic risk score, in addition to other factors, may help guide the discussion regarding surgical intervention. See Video Abstract . DESARROLLO DE UNA PUNTUACIN DE RIESGO POLIGNICO PARA PREDECIR LA DIVERTICULITIS: ANTECEDENTES:A pesar de su prevalencia y morbilidad asociada, nuestra capacidad para predecir el curso en un paciente con enfermedad diverticular sigue siendo limitada. Si bien se han identificado varios factores de riesgo clínicos y genéticos, no sabemos cómo se relacionan estos factores entre sí.OBJETIVO:Determinar si una puntuación de riesgo poligénico podría mejorar la predicción del riesgo de diverticulitis y diverticulitis recurrente en comparación con un modelo que utiliza solo factores clínicos.DISEÑO:Un estudio observacional que examina la capacidad predictiva de una puntuación de riesgo poligénico para la diverticulitis desarrollada usando estudios previos de asociación amplia del genoma y validada usando el biobanco MyCode.ÁMBITOS Y PACIENTES:Pacientes de ascendencia europea en el Sistema de Salud Geisinger que estaban inscritos en el programa de biobancos MyCode Community Health.PRINCIPALES MEDIDAS DE VALORACIÓN:La capacidad de una puntuación de riesgo poligénico para predecir diverticulosis, diverticulitis y diverticulitis recurrente.RESULTADOS:Se incluyeron un total de 60.861 pacientes, de los cuales 9.912 (16,3%) presentaban diverticulosis o diverticulitis (5.015 con diverticulosis y 4.897 con diverticulitis). Cuando se dividió en deciles, nuestra puntuación de riesgo poligénico estratificó a los pacientes según el riesgo de diverticulosis y diverticulitis con una diferencia de 2 veces en el riesgo de enfermedad entre los deciles más alto y más bajo para diverticulitis y una diferencia de 4,8 veces para diverticulitis complicada recurrente. En comparación con los factores clínicos solos, nuestra puntuación de riesgo poligénico pudo mejorar la predicción del riesgo de diverticulitis recurrente.LIMITACIONES:Nuestra población se encuentra en gran parte en una sola región geográfica y se clasificó por estado de enfermedad utilizando códigos de clasificación internacional de enfermedades.CONCLUSIONES:Este modelo predictivo estratifica a los pacientes en función del riesgo genético de enfermedad diverticular. La mayor frecuencia de enfermedad recurrente en nuestros pacientes de alto riesgo sugiere que un puntaje de riesgo poligénico, además de otros factores, puede ayudar a guiar la discusión sobre la intervención quirúrgica. (Traducción- Dr. Ingrid Melo ).
Asunto(s)
Enfermedades Diverticulares , Diverticulitis del Colon , Diverticulitis , Divertículo , Humanos , Diverticulitis del Colon/diagnóstico , Diverticulitis del Colon/epidemiología , Diverticulitis del Colon/genética , Puntuación de Riesgo Genético , Estudio de Asociación del Genoma Completo , Bancos de Muestras Biológicas , Diverticulitis/diagnóstico , Diverticulitis/epidemiología , Diverticulitis/genética , Divertículo/complicaciones , Enfermedades Diverticulares/complicacionesRESUMEN
BACKGROUND: Ischemic colitis (IC) is a known significant complication after repair of a ruptured abdominal aortic aneurysm (rAAA). Lower endoscopy (colonoscopy or flexible sigmoidoscopy) is a helpful adjunct to aid decision making for surgical exploration. We believe routine use of lower endoscopy after rAAA repair provides better patient care through expeditious diagnosis and surgical care. METHODS: We performed a retrospective chart review of rAAA repairs from 2008 to 2019. All patients undergo screening lower endoscopy after rAAA repair at our institution. The incidence of IC, mortality, and diagnostic characteristics of routine lower endoscopy was analyzed. RESULTS: Of these, 182 patients underwent rAAA repair, among which 139 (76%) underwent routine lower endoscopy. Ischemic colitis of any grade was diagnosed in 25% of patients. The 30-day mortality was 11% compared to 19% in those without lower endoscopy. The presence of IC portended a 4-fold increase in mortality rate compared to those without (26% vs 6%, P = .005). Surgical exploration rate was 8% after routine lower endoscopy. Grade III ischemia on lower endoscopy had a sensitivity of 50% (95% CI 12-88) and specificity of 99% (95% CI 94-100) for transmural necrosis. DISCUSSION: We found increased incidence of IC and reliable diagnostic characteristics of routine lower endoscopy in predicting the presence of transmural colonic ischemia. There was decreased mortality with use of routine lower endoscopy but this was not statistically significant.
