Abstract

The aims of the present study were to estimate the celiac disease (CD) prevalence in Denmark and the relevance of the test for human leukocyte antigen DQ2 and DQ8 haplotypes (HLA-DQ2/DQ8) for diagnosing CD. The plasma IgA transglutaminase antibody (TGA-IgA) and HLA-DQ2/DQ8 tests should normally be positive for a CD diagnosis. First, we estimated the CD and HLA-DQ2/DQ8 prevalence in the available blood samples collected at the North Zealand Hospital. Out of a total of 9754 patients, with symptoms suggestive of CD (such as malabsorption, diarrhea, steatorrhea, ion-deficiency anemia, and weight loss or growth failure), 153 patients had TGA-IgA positive results (i.e. TGA-IgA > 10 U/mL). In this cohort, the prevalence of CD was 0.912% and the prevalence of HLA-DQ2/DQ8 positive patients was estimated to be 62%. Based on the distribution of HLA-DQ2/DQ8 positive individuals in the general Danish population, a calculation of CD prevalence in Denmark was found to be maximum 0.77%. Second, we analysed for the HLA-DQ2/DQ8 haplotypes in 293 positive plasma TGA-IgA samples. Nearly all (99%) of the CD patients and non-CD patients were HLA-DQ2/DQ8 positive.

摘要

本研究的目的是估计丹麦的乳糜泻 (CD) 患病率以及人类白细胞抗原 DQ2 和 DQ8 单倍型 (HLA-DQ2/DQ8) 测试对诊断 CD 的相关性。血浆 IgA 转谷氨酰胺酶抗体 (TGA-IgA) 和 HLA-DQ2/DQ8 测试通常应为 CD 诊断阳性。首先，我们估计了在北新西兰医院收集的可用血液样本中 CD 和 HLA-DQ2/DQ8 的患病率。在共有 9754 名有 CD 症状（如吸收不良、腹泻、脂肪泻、缺离子性贫血、体重减轻或生长障碍）的患者中，153 名患者的 TGA-IgA 阳性结果（即 TGA-IgA > 10单位/毫升）。在该队列中，CD 的患病率为 0.912%，HLA-DQ2/DQ8 阳性患者的患病率估计为 62%。根据丹麦普通人群中 HLA-DQ2/DQ8 阳性个体的分布，计算丹麦的 CD 患病率最高为 0.77%。其次，我们分析了 293 个阳性血浆 TGA-IgA 样品中的 HLA-DQ2/DQ8 单倍型。几乎所有 (99%) 的 CD 患者和非 CD 患者都是 HLA-DQ2/DQ8 阳性。