Rahmanipour Elham, Ghorbani Mohammad, Ganji Azita, Mirzaei Zahra, Ghavami Vahid, Shahbazkhani Bijan, Attarian Fahime, Amiri Masoumeh
Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
Department of Gastroenterology and Hepatology, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
Gastroenterol Hepatol Bed Bench. 2023;16(2):203-209. doi: 10.22037/ghfbb.v16i2.2756.
This study aimed to determine the clinical profile of patients with seronegative celiac disease (SNCD).
Celiac disease (CD) is mainly diagnosed based on positive serology and duodenal mucosal atrophy, but some patients have negative serology. Their diagnosis has some limitations; delays in diagnosis are likely accompanied by a poor prognosis and a high risk of developing complications of CD.
In this retrospective study, 1115 patients were evaluated for CD with mucosal atrophy between 2010 to 2020. SNCD diagnosis requires genetic CD predisposition and improvement of both clinical symptoms and regrowth of duodenal villi after 12 months of a gluten-free diet (GFD) for all patients with IgA deficiency, other IgG-based serology for diagnosis of celiac was done and if these antibodies were negative, consider them as possible SNCD. If they had positive DQ2-DQ8 and improvement of clinical symptoms and mucosal atrophy after 12 months of GFD were confirmed SNCD.
Of the 1115 study subjects, 27 had SNCD, 1088 had SPCD with a mean age of 29.7±15.7 years (1 to 76 years) in seropositive celiac disease (SPCD) subjects and 37.1±16.3 years (6 to 63 years) in SNCD participants and 19 female patients with SNCD were presented. The BMI of SNCD and SPCD patients were reported 23.9 and 21.4, respectively. In addition, SPCD subjects were more likely but not statistically significant to have a positive family history. Villous atrophy was shown in 100% SNCD and 95.6% SPCD cases. Scalloping and fissuring in duodenal biopsies were reported in 60% of SNCD and 84.5% of SPCD patients. There was some other cause of seronegative villous atrophy including 3 patients with Crohns disease, 2 with common variable immunodeficiency, 2 drug and one patient with peptic duodenitis. Anemia, neurological symptoms, and liver function tests (LFT) abnormality were common extra intestinal manifestations in SNCD individuals. Levels of Thyroid peroxidase (TPO), TSH were measured, it had been detected that SNCD cases had a higher rate of co-occurrence with thyroid diseases also SPCD cases showed a higher rate of co-occurrence with diabetes.
Among patients with celiac disease 2.4% are SNCD. SNCD are older than SPCD at the time of diagnosis and have higher BMI. Most common of cause of seronegative enteropathy also is SNCD followed by inflammatory bowel disease (IBD) common variable immunodeficiency (CVID), medication use, and duodenitis, in this area.
本研究旨在确定血清阴性乳糜泻（SNCD）患者的临床特征。
乳糜泻（CD）主要根据血清学阳性和十二指肠黏膜萎缩进行诊断，但部分患者血清学呈阴性。其诊断存在一定局限性；诊断延迟可能伴有预后不良以及发生CD并发症的高风险。
在这项回顾性研究中，对2010年至2020年间1115例有黏膜萎缩的CD患者进行了评估。SNCD的诊断需要有CD遗传易感性，并且对于所有IgA缺乏的患者，在无麸质饮食（GFD）12个月后临床症状改善且十二指肠绒毛再生。采用其他基于IgG的血清学方法进行乳糜泻诊断，如果这些抗体为阴性，则将其视为可能的SNCD。如果他们的DQ2 - DQ8呈阳性，且在GFD 12个月后临床症状和黏膜萎缩得到改善，则确诊为SNCD。
在1115名研究对象中，27例为SNCD，1088例为血清阳性乳糜泻（SPCD）。SPCD患者的平均年龄为29.7±15.7岁（1至76岁），SNCD参与者的平均年龄为37.1±16.3岁（6至63岁），其中有19例女性SNCD患者。报告显示，SNCD和SPCD患者的BMI分别为23.9和21.4。此外，SPCD患者更有可能有阳性家族史，但差异无统计学意义。100%的SNCD病例和95.6%的SPCD病例出现绒毛萎缩。60%的SNCD患者和84.5%的SPCD患者十二指肠活检报告有扇贝样改变和裂隙。血清阴性绒毛萎缩还有其他一些原因，包括3例克罗恩病患者、2例常见可变免疫缺陷患者、2例药物相关患者和1例消化性十二指肠炎症患者。贫血、神经症状和肝功能检查（LFT）异常是SNCD个体常见的肠外表现。检测了甲状腺过氧化物酶（TPO）、促甲状腺激素（TSH）水平，发现SNCD病例与甲状腺疾病共病率较高，SPCD病例与糖尿病共病率较高。
在乳糜泻患者中，2.4%为SNCD。SNCD在诊断时年龄比SPCD大，且BMI更高。血清阴性小肠病最常见的原因也是SNCD，其次是炎症性肠病（IBD）、常见可变免疫缺陷（CVID）、药物使用和十二指肠炎症。
