Saint Vincent Family Medicine Residency, Erie, PA, USA.
University of North Carolina School of Medicine, Chapel Hill, NC, USA.
Am Fam Physician. 2014 Jan 15;89(2):99-105.
Celiac disease is an autoimmune disorder of the gastrointestinal tract. It is triggered by exposure to dietary gluten in genetically susceptible individuals. Gluten is a storage protein in wheat, rye, and barley, which are staples in many American diets. Celiac disease is characterized by chronic inflammation of the small intestinal mucosa, which leads to atrophy of the small intestinal villi and subsequent malabsorption. The condition may develop at any age. Intestinal manifestations include diarrhea and weight loss. Common extraintestinal manifestations include iron deficiency anemia, decreased bone mineral density, and neuropathy. Most cases of celiac disease are diagnosed in persons with extraintestinal manifestations. The presence of dermatitis herpetiformis is pathognomonic for celiac disease. Diagnosis is supported by a positive tissue transglutaminase serologic test but, in general, should be confirmed by a small bowel biopsy showing the characteristic histology associated with celiac disease. The presence of human leukocyte antigen alleles DQ2, DQ8, or both is essential for the development of celiac disease, and can be a useful genetic test in select instances. Treatment of celiac disease is a gluten-free diet. Dietary education should focus on identifying hidden sources of gluten, planning balanced meals, reading labels, food shopping, dining out, and dining during travel. About 5% of patients with celiac disease are refractory to a gluten-free diet. These patients should be referred to a gastroenterologist for reconsideration of the diagnosis or for aggressive treatment of refractory celiac disease, which may involve corticosteroids and immunomodulators.
乳糜泻是一种胃肠道自身免疫性疾病。它是由遗传易感个体接触膳食中的麸质引起的。麸质是小麦、黑麦和大麦中的一种储存蛋白，是许多美国人饮食中的主食。乳糜泻的特征是小肠黏膜的慢性炎症，导致小肠绒毛萎缩，随后出现吸收不良。这种情况可能在任何年龄发生。肠道表现包括腹泻和体重减轻。常见的肠外表现包括缺铁性贫血、骨密度降低和神经病。大多数乳糜泻病例是在有肠外表现的患者中诊断出来的。疱疹样皮炎的存在是乳糜泻的特征性表现。组织转谷氨酰胺酶血清学检测阳性支持诊断，但一般应通过显示与乳糜泻相关的特征性组织学的小肠活检来证实。人类白细胞抗原等位基因 DQ2、DQ8 或两者的存在是乳糜泻发生的必要条件，在某些情况下可以作为有用的遗传检测。乳糜泻的治疗方法是无麸质饮食。饮食教育应侧重于识别隐藏的麸质来源、计划均衡饮食、阅读标签、购物、外出就餐和旅行时就餐。约 5%的乳糜泻患者对无麸质饮食无反应。这些患者应转介给胃肠病学家重新考虑诊断或积极治疗难治性乳糜泻，这可能涉及皮质类固醇和免疫调节剂。
