Farina Mohammad Hanif, Kumar Mandhwani Rajesh, Hassan Luck Nasir, Abbas Zaigham, Mubarak Muhammed, Laeeq S Mudassir, Tasneem Abbas Ali
Departments of Hepatogastroenterology and Histopathology, Sindh Institute of Urology and Transplantation, Karachi, Pakistan.
Middle East J Dig Dis. 2017 Apr;9(2):94-99. doi: 10.15171/mejdd.2017.57.
BACKGROUND Celiac disease (CD) is usually missed, if the serology is negative. We aimed to evaluate the clinicopathological characteristics of seronegative CD (SNCD) and its response to gluten-free diet (GFD) in adult patients. METHODS This observational study was carried out at the Department of Hepatogastroenterology, Sindh Institute of Urology and Transplantation, Karachi, Pakistan from 2009 to 2015. All consecutive adult patients (≥17 years) with features of marked villous atrophy (Marsh class≥III) on duodenal biopsy, negative tissue transglutaminase IgA and IgG antibodies (anti-tTg IgA and IgG) and human leukocyte antigen (HLA) DQ2 or DQ8 serotypes were studied. Clinical characteristics, laboratory parameters, and response to GFD were analyzed by SPSS software version 20. Median and interquartile range (IQR) were used for summarizing quantitative data. Frequency (percentages) was used for qualitative data. RESULTS A total of 12 patients with median age of 31.5 years (IQR: 19.75-46.75 years), of whom five (41.6%) were men were studied. The presenting complaints were: weight loss in 11 (91.6%) and abdominal pain in 9 (75%) patients. Anemia was observed in 10 (83.3%) patients with median hemoglobin of 9.5 g/dL (IQR: 6.3-13.25 g/dL). Median alanine transaminase (ALT) was 21 U/L (IQR: 13-27 U/L) and median albumin was 3 g/dL (IQR: 2.4-3.6 g/dL). Anti-tTg IgA and IgG were negative in all patients. HLA DQ serotyping showed homozygous DQ2 and DQ8 in four and one patients, respectively; while heterozygous DQ2 and DQ8 in five and two patients, respectively. All patients were advised to receive GFD. Nine (75%) patients showed complete clinical response. Two patients were non-compliant and one with non-alcoholic fatty liver disease (NAFLD)-related cirrhosis had partial clinical response. Out of the nine responders, two patients showed response within 6 months while the remaining showed improvement over a year period. CONCLUSION The diagnosis of SNCD is rewarding as it responds favorably to GFD in most patients. HLA serology provides an important tool for diagnosis of this entity.
如果血清学检查呈阴性，乳糜泻（CD）通常会被漏诊。我们旨在评估成年患者血清阴性乳糜泻（SNCD）的临床病理特征及其对无麸质饮食（GFD）的反应。
本观察性研究于2009年至2015年在巴基斯坦卡拉奇信德泌尿与移植研究所肝病胃肠病科进行。对所有十二指肠活检显示明显绒毛萎缩（马什分级≥III级）、组织转谷氨酰胺酶IgA和IgG抗体（抗tTg IgA和IgG）阴性以及人类白细胞抗原（HLA）DQ2或DQ8血清型的连续成年患者（≥17岁）进行研究。使用SPSS 20软件分析临床特征、实验室参数和对GFD的反应。中位数和四分位数间距（IQR）用于汇总定量数据。频率（百分比）用于定性数据。
共研究了12例患者，中位年龄为31.5岁（IQR：19.75 - 46.75岁），其中5例（41.6%）为男性。主要症状为：11例（91.6%）体重减轻，9例（75%）腹痛。10例（83.3%）患者出现贫血，中位血红蛋白为9.5 g/dL（IQR：6.3 - 13.25 g/dL）。中位丙氨酸转氨酶（ALT）为21 U/L（IQR：13 - 27 U/L），中位白蛋白为3 g/dL（IQR：2.4 - 3.6 g/dL）。所有患者抗tTg IgA和IgG均为阴性。HLA DQ血清分型显示，分别有4例和1例患者为纯合子DQ2和DQ8；而分别有5例和2例患者为杂合子DQ2和DQ8。所有患者均被建议接受GFD。9例（75%）患者显示出完全临床缓解。2例患者不依从，1例患有非酒精性脂肪性肝病（NAFLD）相关肝硬化的患者有部分临床缓解。在9例缓解者中，2例患者在6个月内出现缓解，其余患者在1年内有所改善。
SNCD的诊断是有价值的，因为大多数患者对GFD反应良好。HLA血清学为该疾病的诊断提供了重要工具。
