Elli Luca, Soru Pietro, Roncoroni Leda, Rossi Francesca Gaia, Ferla Valeria, Baldini Luca, Nandi Nicoletta, Scaramella Lucia, Scricciolo Alice, Rimondi Alessandro, Fusco Nicola, Croci Giorgio Alberto, Gianelli Umberto, Cro Lilla, Barbieri Marzia, Lombardo Vincenza, Costantino Andrea, Vaira Valentina, Ferrero Stefano, Tontini Gian Eugenio, Barigelletti Giulio, Fabiano Sabrina, Doneda Luisa, Vecchi Maurizio
Department of Pathophysiology and Transplantation, University of Milan, Milan 20122, Italy; Center for Prevention and Diagnosis of Celiac Disease and Division of Gastroenterology and Endoscopy, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Via F. Sforza 35, Milan 20122, Italy.
Department of Pathophysiology and Transplantation, University of Milan, Milan 20122, Italy; Center for Prevention and Diagnosis of Celiac Disease and Division of Gastroenterology and Endoscopy, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Via F. Sforza 35, Milan 20122, Italy.
Dig Liver Dis. 2023 Feb;55(2):235-242. doi: 10.1016/j.dld.2022.08.022. Epub 2022 Sep 10.
Refractory celiac disease (RCeD) is a rare complication of celiac disease (CeD) with a severe prognosis. We describe a cohort of patients with RCeD, their clinical and histological features at diagnosis, after therapy and at lymphoma onset, and the rate and causes of death over a 17-year follow-up.
We retrospectively enrolled RCeD-I and RCeD-II patients attending our center between January 2002 and October 2019. Medical data were collected at diagnosis and during monitoring. Response to therapy, changes in RCeD molecular markers, number of hospitalizations, discharge diagnosis, and cause and date of death were evaluated. The control cohort consisted of 1015 responsive CeD patients.
Compared with RCeD-I, RCeD-II more frequently exhibits diarrhea (83 vs 64%), anemia (61 vs 50%), hypoalbuminemia (70 vs 21%), parenteral nutrition need (48 vs 7%), ulcerative jejuno-ileitis (7 vs 39%), and extended small intestinal atrophy (62 vs 21%). One RCeD-I and six RCeD-II patients developed lymphoma. Ten RCeD-II patients died, four from lymphoma progression. Among RCeD-II patients, atrophy extension was the only parameter correlated with hypoalbuminemia and mortality.
Clinical severity, response to therapy, and mortality differ between RCeD-I and RCeD-II. Atrophy extension, evaluated at capsule endoscopy, was associated with disease severity and mortality.
难治性乳糜泻（RCeD）是乳糜泻（CeD）的一种罕见并发症，预后严重。我们描述了一组RCeD患者，包括他们诊断时、治疗后及淋巴瘤发病时的临床和组织学特征，以及17年随访期间的死亡率和死亡原因。
我们回顾性纳入了2002年1月至2019年10月在本中心就诊的RCeD-I和RCeD-II患者。收集诊断时和监测期间的医疗数据。评估治疗反应、RCeD分子标志物的变化、住院次数、出院诊断以及死亡原因和日期。对照组由1015例有反应的CeD患者组成。
与RCeD-I相比，RCeD-II更常出现腹泻（83%对64%）、贫血（61%对50%）、低白蛋白血症（70%对21%）、需要肠外营养（48%对7%）、溃疡性空肠回肠炎（7%对39%）和广泛性小肠萎缩（62%对21%）。1例RCeD-I患者和6例RCeD-II患者发生淋巴瘤。10例RCeD-II患者死亡，4例死于淋巴瘤进展。在RCeD-II患者中，萎缩范围是与低白蛋白血症和死亡率相关的唯一参数。
RCeD-I和RCeD-II在临床严重程度、治疗反应和死亡率方面存在差异。经胶囊内镜评估的萎缩范围与疾病严重程度和死亡率相关。
