Esteve M, Rosinach M, Fernández-Bañares F, Farré C, Salas A, Alsina M, Vilar P, Abad-Lacruz A, Forné M, Mariné M, Santaolalla R, Espinós J C, Viver J M
Department of Gastroenterology, Hospital Mútua de Terrassa, Universitat de Barcelona, Plaça Dr Robert no. 5, 08221 Terrassa, Barcelona, Catalonia, Spain.
Gut. 2006 Dec;55(12):1739-45. doi: 10.1136/gut.2006.095299. Epub 2006 May 18.
Limited data on a short series of patients suggest that lymphocytic enteritis (classically considered as latent coeliac disease) may produce symptoms of malabsorption, although the true prevalence of this situation is unknown. Serological markers of coeliac disease are of little diagnostic value in identifying these patients.
To evaluate the usefulness of human leucocyte antigen-DQ2 genotyping followed by duodenal biopsy for the detection of gluten-sensitive enteropathy in first-degree relatives of patients with coeliac disease and to assess the clinical relevance of lymphocytic enteritis diagnosed with this screening strategy.
221 first-degree relatives of 82 DQ2+ patients with coeliac disease were consecutively included. Duodenal biopsy (for histological examination and tissue transglutaminase antibody assay in culture supernatant) was carried out on all DQ2+ relatives. Clinical features, biochemical parameters and bone mineral density were recorded.
130 relatives (58.8%) were DQ2+, showing the following histological stages: 64 (49.2%) Marsh 0; 32 (24.6%) Marsh I; 1 (0.8%) Marsh II; 13 (10.0%) Marsh III; 15.4% refused the biopsy. 49 relatives showed gluten sensitive enteropathy, 46 with histological abnormalities and 3 with Marsh 0 but positive tissue transglutaminase antibody in culture supernatant. Only 17 of 221 relatives had positive serological markers. Differences in the diagnostic yield between the proposed strategy and serology were significant (22.2% v 7.2%, p<0.001). Relatives with Marsh I and Marsh II-III were more often symptomatic (56.3% and 53.8%, respectively) than relatives with normal mucosa (21.1%; p = 0.002). Marsh I relatives had more severe abdominal pain (p = 0.006), severe distension (p = 0.047) and anaemia (p = 0.038) than those with Marsh 0. The prevalence of abnormal bone mineral density was similar in relatives with Marsh I (37%) and Marsh III (44.4%).
The high number of symptomatic patients with lymphocytic enteritis (Marsh I) supports the need for a strategy based on human leucocyte antigen-DQ2 genotyping followed by duodenal biopsy in relatives of patients with coeliac disease and modifies the current concept that villous atrophy is required to prescribe a gluten-free diet.
关于一小部分患者的有限数据表明，淋巴细胞性肠炎（传统上被认为是潜在的乳糜泻）可能会产生吸收不良症状，尽管这种情况的真实患病率尚不清楚。乳糜泻的血清学标志物在识别这些患者方面诊断价值不大。
评估人类白细胞抗原-DQ2基因分型联合十二指肠活检在检测乳糜泻患者一级亲属中麸质敏感性肠病的实用性，并评估通过这种筛查策略诊断出的淋巴细胞性肠炎的临床相关性。
连续纳入82例DQ2阳性乳糜泻患者的221名一级亲属。对所有DQ2阳性亲属进行十二指肠活检（用于组织学检查和培养上清液中的组织转谷氨酰胺酶抗体检测）。记录临床特征、生化参数和骨密度。
130名亲属（58.8%）为DQ2阳性，显示出以下组织学阶段：64例（49.2%）马什0期；32例（24.6%）马什I期；1例（0.8%）马什II期；13例（10.0%）马什III期；15.4%拒绝活检。49名亲属患有麸质敏感性肠病，46例有组织学异常，3例马什0期但培养上清液中组织转谷氨酰胺酶抗体阳性。221名亲属中只有17名血清学标志物呈阳性。所提出的策略与血清学之间的诊断率差异显著（22.2%对7.2%，p<0.001）。马什I期和马什II - III期的亲属比黏膜正常的亲属更常出现症状（分别为56.3%和53.8%对21.1%；p = 0.002）。马什I期亲属比马什0期亲属有更严重的腹痛（p = 0.006）、严重腹胀（p = 0.047）和贫血（p = 0.038）。马什I期亲属（37%）和马什III期亲属（44.4%）骨密度异常的患病率相似。
大量有症状的淋巴细胞性肠炎（马什I期）患者支持在乳糜泻患者亲属中采用基于人类白细胞抗原-DQ2基因分型联合十二指肠活检的策略，并且改变了目前认为需要出现绒毛萎缩才开具无麸质饮食的观念。
