We investigated this issue by inviting a large cohort of previously screening-negative relatives of patients with coeliac disease to participate in a follow-up study.
Altogether 599 relatives of coeliac disease index patients not diagnosed with coeliac disease in a screening study carried out in 2006-2010 were asked about possible later diagnosis or re-tested with coeliac disease autoantibodies in 2017-2021. Besides incidence, the possible impact of various patient-related clinical factors and HLA haplotype on the later diagnosis or screening positivity was examined.
Fifteen (2.5%) relatives were either diagnosed with a coeliac disease (n = 8) during the follow-up period or were found to be screening-positive in the re-testing (n = 7), giving a combined annual incidence of 221/100,000 person-years in all relatives and 336/100,000 among those carrying coeliac disease-associated HLA DQ2/DQ8. The new cases more often carried the high-risk (DQ2.5/2.5 or DQ2.5/2.2; 35.7% vs. 7.4%, respectively, p < 0.001) HLA and were younger at initial screening (23.3 vs. 40.5 years, p = 0.028) and - in spite of a negative screening outcome - had higher median transglutaminase antibody level in the first study than those not affected. There were no significant differences between the affected and non-affected relatives in other demographic data, degree of kinship with the index, current symptoms or frequency of chronic co-morbidities.
The incidence rate for later coeliac disease diagnosis or new seropositivity in relatives who had been tested once was 221/100,000 person-years in all and 336/100,000 among those carrying at-risk HLA genetics after ∼10 years of follow-up. HLA-typing could help to target a subgroup of relatives who would benefit most from re-testing.
我们通过邀请大量先前筛查阴性的乳糜泻患者亲属参与随访研究来调查这一问题。
在2006-2010年进行的一项筛查研究中,共有599名没有被诊断为乳糜泻的乳糜泻指数患者的亲属被问及可能的后期诊断或在2017-2021年用乳糜泻自身抗体重新测试。除了发病率,研究了各种患者相关临床因素和HLA单倍型对后期诊断或筛查阳性的可能影响.
15名(2.5%)亲属在随访期间被诊断为乳糜泻(n=8),或在复检中被发现为筛查阳性(n=7)。在所有亲属中,合并年发病率为221/100,000人年,在携带乳糜泻相关HLADQ2/DQ8的人中,合并年发病率为336/100,000。新病例更常携带高风险(DQ2.5/2.5或DQ2.5/2.2;35.7%vs.7.4%,分别,p<0.001)HLA,在初次筛查时更年轻(23.3vs.40.5年,p=0.028),并且-尽管筛查结果为阴性-在第一项研究中,转谷氨酰胺酶抗体的中位数水平高于未受影响的水平。在其他人口统计数据中,受影响的亲属和未受影响的亲属之间没有显着差异,与指数的亲属关系程度,慢性合并症的当前症状或频率。
经过10年的随访后,在接受过一次测试的亲属中,晚期乳糜泻诊断或新的血清阳性的发生率为221/100,000人年,在携带有风险HLA遗传学的人中为336/100,000。HLA分型可以帮助针对从重新测试中受益最大的亲属亚组。