Department of Medical Sciences, University of Ferrara, Via Aldo Moro 8, Cona, 44124, Ferrara, Italy.
Center for Celiac Research and Treatment, Massachusetts General Hospital, Boston, MA, 02114, USA.
BMC Med. 2019 Jul 23;17(1):142. doi: 10.1186/s12916-019-1380-z.
Celiac disease remains a challenging condition because of a steady increase in knowledge tackling its pathophysiology, diagnosis, management, and possible therapeutic options.
A major milestone in the history of celiac disease was the identification of tissue transglutaminase as the autoantigen, thereby confirming the autoimmune nature of this disorder. A genetic background (HLA-DQ2/DQ8 positivity and non-HLA genes) is a mandatory determinant of the development of the disease, which occurs with the contribution of environmental factors (e.g., viral infections and dysbiosis of gut microbiota). Its prevalence in the general population is of approximately 1%, with female predominance. The disease can occur at any age, with a variety of symptoms/manifestations. This multifaceted clinical presentation leads to several phenotypes, i.e., gastrointestinal, extraintestinal, subclinical, potential, seronegative, non-responsive, and refractory. Although small intestinal biopsy remains the diagnostic 'gold standard', highly sensitive and specific serological tests, such as tissue transglutaminase, endomysial and deamidated gliadin peptide antibodies, have become gradually more important in the diagnostic work-up of celiac disease. Currently, the only treatment for celiac disease is a life-long, strict gluten-free diet leading to improvement in quality of life, ameliorating symptoms, and preventing the occurrence of refractory celiac disease, ulcerative jejunoileitis, and small intestinal adenocarcinoma and lymphoma.
The present review is timely and provides a thorough appraisal of various aspects characterizing celiac disease. Remaining challenges include obtaining a better understanding of still-unclear phenotypes such as slow-responsive, potential (minimal lesions) and seronegative celiac disease. The identification of alternative or complementary treatments to the gluten-free diet brings hope for patients unavoidably burdened by diet restrictions.
由于对其发病机制、诊断、管理和可能的治疗选择的了解不断增加，乳糜泻仍然是一种具有挑战性的疾病。
乳糜泻历史上的一个重要里程碑是鉴定组织转谷氨酰胺酶作为自身抗原，从而证实了这种疾病的自身免疫性质。遗传背景（HLA-DQ2/DQ8 阳性和非 HLA 基因）是疾病发展的强制性决定因素，它在环境因素（例如病毒感染和肠道微生物群落失调）的作用下发生。其在普通人群中的患病率约为 1%，女性居多。这种疾病可以在任何年龄发生，有多种症状/表现。这种多方面的临床表现导致了多种表型，即胃肠道、肠外、亚临床、潜在、血清阴性、无反应和难治性。虽然小肠活检仍然是诊断的“金标准”，但高度敏感和特异性的血清学检测，如组织转谷氨酰胺酶、内肌酶和脱酰胺麦胶蛋白肽抗体，在乳糜泻的诊断中变得越来越重要。目前，乳糜泻的唯一治疗方法是终生严格的无麸质饮食，这可以改善生活质量，缓解症状，并预防难治性乳糜泻、溃疡性空肠回肠炎、小肠腺癌和淋巴瘤的发生。
本文的综述是及时的，对乳糜泻的各个方面进行了全面的评估。目前仍面临的挑战包括更好地理解仍不清楚的表型，如反应缓慢、潜在（最小病变）和血清阴性乳糜泻。寻找无麸质饮食的替代或补充治疗方法为不可避免地受到饮食限制的患者带来了希望。
