Academic Department of Gastroenterology, Royal Hallamshire Hospital, Sheffield Teaching Hospitals, Sheffield, UK.
Curr Opin Gastroenterol. 2020 May;36(3):215-222. doi: 10.1097/MOG.0000000000000628.
The aim of this review is to provide insight into the diagnosis and management of patients with refractory coeliac disease (RCD) and highlight recent advances in this field.
The diagnosis of RCD can be more accurately confirmed with flow cytometry in addition to immunohistochemistry. Dietary input and excretion of gluten immunogenic peptides can help rule out gluten contamination, and therefore, substantiate a diagnosis of RCD type I. Small bowel capsule endoscopy (SBCE) is important at diagnosis and follow-up in addition to duodenal histology. Apart from ruling out complications, it can give information on extent of disease in the small bowel, and therefore, help assess response to therapy. Those patients with a poor response can have earlier intensification of therapy, which may result in an improved outcome. RCD also occurs in patients with serology negative coeliac disease but with an increased mortality compared with patients with serology-positive coeliac disease.
Patients with RCD can present with persistent symptoms of malnutrition but can also be completely asymptomatic. Serology is not a reliable marker to detect refractory disease. Immunostaining and flow cytometry are necessary for a diagnosis of RCD. Small bowel endoscopy enables disease extent to be assessed and allows for small bowel biopsies to be taken in case of suspicious lesions. Small bowel radiology can be complementary to small bowel endoscopy.
本文旨在深入了解难治性乳糜泻（RCD）患者的诊断和治疗，并强调该领域的最新进展。
除免疫组织化学外，流式细胞术可更准确地确认 RCD 的诊断。膳食输入和麸质免疫肽的排泄有助于排除麸质污染，从而证实 I 型 RCD 的诊断。除了排除并发症外，小肠胶囊内镜（SBCE）在诊断和随访中以及十二指肠组织学中都很重要。它不仅可以提供小肠疾病程度的信息，从而有助于评估对治疗的反应，还可以为那些反应不佳的患者提供更早强化治疗的机会，从而可能改善预后。RCD 也发生在血清学阴性乳糜泻患者中，但与血清学阳性乳糜泻患者相比，死亡率更高。
RCD 患者可能持续存在营养不良的症状，但也可能完全无症状。血清学不是检测难治性疾病的可靠标志物。免疫染色和流式细胞术是诊断 RCD 的必要条件。小肠内镜检查可评估疾病程度，并在可疑病变时进行小肠活检。小肠放射学可作为小肠内镜检查的补充。
