Volta Umberto, Mumolo Maria Gloria, Caio Giacomo, Boschetti Elisa, Latorre Rocco, Giancola Fiorella, Paterini Paola, De Giorgio Roberto
Department of Medical and Surgical Sciences, University of Bologna, Italy.
Gastroenterology Unit, Department of Gastroenterology, University of Pisa, Italy.
Gastroenterol Hepatol Bed Bench. 2016 Spring;9(2):140-5.
A 62-year-old woman complaining of severe malabsorption was diagnosed with celiac disease based on the findings of flat, small intestinal mucosa and HLA-DQ2 positivity, although celiac serology was negative. This diagnosis was questioned due to the lack of clinical and histological improvement after a long period of strict gluten-free diet. The detection of enterocyte autoantibodies guided to the correct diagnosis of autoimmune enteropathy, leading to a complete recovery of the patient following an appropriate immunosuppressive treatment. Autoimmune enteropathy should be considered in the differential diagnosis of malabsorption with severe villous atrophy, including those cases with negative celiac-related serology.
一名62岁女性因严重吸收不良前来就诊,尽管乳糜泻血清学检查呈阴性,但根据小肠黏膜扁平及HLA-DQ2阳性的检查结果,仍被诊断为乳糜泻。由于长期严格遵循无麸质饮食后,临床症状和组织学表现均未改善,该诊断受到质疑。肠上皮细胞自身抗体的检测有助于正确诊断自身免疫性肠病,在进行适当的免疫抑制治疗后,患者得以完全康复。在鉴别诊断伴有严重绒毛萎缩的吸收不良时,应考虑自身免疫性肠病,包括那些乳糜泻相关血清学检查呈阴性的病例。