Mukewar Saurabh S, Sharma Ayush, Rubio-Tapia Alberto, Wu Tsung-Teh, Jabri Bana, Murray Joseph A
Division of Gastroenterology and Hepatology, Mayo Clinic, Rochester, Minnesota, USA.
Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA.
Am J Gastroenterol. 2017 Jun;112(6):959-967. doi: 10.1038/ajg.2017.71. Epub 2017 Mar 21.
Refractory celiac disease (RCD) is a rare condition often associated with poor prognosis. Various immunosuppressive medications (IMs) have been used with modest success. We describe outcomes in patients treated with open-capsule budesonide (OB), including those for whom IM treatment failed.
We identified RCD patients treated with OB at Mayo Clinic, Rochester, Minnesota from 2003 to 2015. Demographic, serologic, and clinical variables were analyzed.
We identified 57 patients who received OB for suspected RCD. Based on clonal T-cell receptor gamma gene rearrangement or aberrant phenotype of intraepithelial lymphocytes (IELs), 13 patients (23%) were classified as having RCD-2 and 43 (75%) as RCD-1. In one patient (2%) TCR gene rearrangement status was unknown. Most patients were women (69%), mean (s.d.) age was 60.5 (3.5) years and body mass index was 28.4 (4.5) kg/m. The majority had diarrhea (72%), with median of 6 bowel movements per day (range, 4-25). IM treatment (azathioprine, systemic corticosteroids, or regular budesonide) had failed in nearly half. Twenty-four patients (42%) had anemia and 12 (21%) had hypoalbuminemia. All had Marsh 3 lesions on biopsy: 3a (19%), 3b (46%), and 3c (35%). After OB therapy, the majority had clinical (92%) and histologic (89%) improvement. Follow-up biopsy in 7 out of 13 patients with RCD-2 (53%) showed an absence of clonal TCR gamma gene rearrangement/aberrant IEL phenotype previously seen. On follow-up, 2 patients (4%) died of enteropathy-associated T-cell lymphoma.
Most patients with RCD show clinical and histopathologic improvement with OB therapy, including those with failure of IMs. OB is a promising therapeutic option for management of RCD.
难治性乳糜泻（RCD）是一种罕见疾病，常与不良预后相关。多种免疫抑制药物（IMs）已被使用，但效果一般。我们描述了接受开放胶囊型布地奈德（OB）治疗患者的结局，包括那些IM治疗失败的患者。
我们确定了2003年至2015年在明尼苏达州罗切斯特市梅奥诊所接受OB治疗的RCD患者。分析了人口统计学、血清学和临床变量。
我们确定了57例因疑似RCD接受OB治疗的患者。根据克隆性T细胞受体γ基因重排或上皮内淋巴细胞（IELs）的异常表型，13例患者（23%）被分类为患有RCD-2，43例（75%）为RCD-1。1例患者（2%）的TCR基因重排状态未知。大多数患者为女性（69%），平均（标准差）年龄为60.5（3.5）岁，体重指数为28.4（4.5）kg/m。大多数患者有腹泻（72%），每天排便中位数为6次（范围为4 - 25次）。近一半患者IM治疗（硫唑嘌呤、全身性皮质类固醇或常规布地奈德）失败。24例患者（42%）有贫血，12例（21%）有低白蛋白血症。所有患者活检均有马什3级病变：3a级（19%）、3b级（46%）和3c级（35%）。OB治疗后，大多数患者有临床（92%）和组织学（89%）改善。13例RCD-2患者中有7例（53%）随访活检显示先前存在的克隆性TCRγ基因重排/异常IEL表型消失。随访时，2例患者（4%）死于肠病相关T细胞淋巴瘤。
大多数RCD患者接受OB治疗后临床和组织病理学有改善，包括那些IM治疗失败的患者。OB是治疗RCD的一种有前景的治疗选择。
