Tursi A, Brandimarte G, Giorgetti G M, Inchingolo C D
Dept. of Emergency, L. Bonomo Hospital, Andria (BA), Italy.
Scand J Gastroenterol. 2003 Jul;38(7):727-31. doi: 10.1080/00365520310003697.
Small intestinal lesions have a wide severity in coeliac disease (CD), and early diagnosis is important in preventing neoplastic and non-neoplastic disorders related to CD. The aim of this study was to compare the effectiveness of the sorbitol H2 breath test (H2-BT) and serological tests (antigliadin (AGA), antiendomysium (EMA) and anti-tissue transglutaminase (anti-tTG)) as screening tests in the detection and estimation of CD prevalence in 1st-degree relatives.
Screening was performed in 111 1st-degree relatives of 37 coeliac families. Sorbitol H2-BT, AGA, EMA and anti-tTG antibodies were used to select the candidates for small-bowel biopsy. Relatives with abnormal serological tests and/or with sorbitol H2-BT positivity underwent a small-bowel biopsy. Small-bowel biopsy was also performed in relatives negative in all tests but with clinical complaints or suspected of having CD, and intestinal lesions were expressed according to the Marsh classification.
CD was diagnosed in 49/111 screened relatives (44.14%): 5 showed Marsh IIIc, 8 Marsh IIIb, 16 Marsh IIIa, 13 Marsh II and 7 Marsh I lesions. Nineteen relatives showed the classical form of the disease, while the subclinical and silent forms were recorded in 20 and 10, respectively. AGA, EMA and anti-tTG showed strong positivity only in severe intestinal damage (Marsh IIIb-c lesions) (but overall positivity was 36.73%, 38.78% and 44.89% for AGA, EMA and anti-tTG, respectively), while sorbitol H2-BT showed strong positivity also in patients with slight histological damage (Marsh I-IIIa) (overall positivity was 83.67%).
A significant proportion of coeliacs may be missed if relatives are screened by serology only, while the efficacy of sorbitol H2-BT in screening relatives is confirmed. This study confirms that neither a breath test nor serology can replace intestinal biopsy, which remains the gold standard for the diagnosis of CD.
乳糜泻（CD）患者的小肠病变严重程度差异很大，早期诊断对于预防与CD相关的肿瘤性和非肿瘤性疾病至关重要。本研究的目的是比较山梨醇氢呼气试验（H2-BT）和血清学检测（抗麦醇溶蛋白（AGA）、抗肌内膜（EMA）和抗组织转谷氨酰胺酶（抗tTG））作为筛查试验在检测和评估一级亲属中CD患病率的有效性。
对37个乳糜泻家庭的111名一级亲属进行筛查。使用山梨醇H2-BT、AGA、EMA和抗tTG抗体来选择小肠活检的候选人。血清学检测异常和/或山梨醇H2-BT呈阳性的亲属接受小肠活检。所有检测均为阴性但有临床症状或疑似患有CD的亲属也进行了小肠活检，并根据Marsh分类法对肠道病变进行描述。
在111名接受筛查的亲属中，49人（44.14%）被诊断为CD：5人表现为Marsh IIIc，8人表现为Marsh IIIb，16人表现为Marsh IIIa，13人表现为Marsh II，7人表现为Marsh I病变。19名亲属表现为该病的典型形式，而亚临床形式和隐匿形式分别记录在20人和10人中。AGA、EMA和抗tTG仅在严重肠道损伤（Marsh IIIb-c病变）时呈强阳性（但AGA、EMA和抗tTG的总体阳性率分别为36.73%、38.78%和44.89%），而山梨醇H2-BT在组织学损伤轻微（Marsh I-IIIa）的患者中也呈强阳性（总体阳性率为83.67%）。
如果仅通过血清学对亲属进行筛查，可能会遗漏相当一部分乳糜泻患者，而山梨醇H2-BT在筛查亲属方面的有效性得到了证实。本研究证实，呼气试验和血清学都不能替代肠道活检，肠道活检仍然是CD诊断的金标准。
