Towards an individual screening strategy for first-degree relatives of celiac patients

Abstract

Celiac disease (CD) is known to be more prevalent in first-degree relatives of patients. In this retrospective cohort study of 609 relatives between 1994 and 2016, we investigated the effect of sex, HLA type, and age at time of index celiac diagnosis. Pearson's chi-square test and Kaplan-Meier survival analysis were used as statistical analyses. CD screening was carried out for 427 relatives (70%), resulting in a prevalence of 15%. HLA typing in 335 relatives showed HLA-DQ2/DQ8 positivity in 87.5%. In 63% of children and all parents, celiac disease was diagnosed at first screening. It was diagnosed significantly more often in females, HLA-DQ2 homozygosity, and children (all p < 0.05). In children aged 0-1 year at time of index diagnosis, celiac disease was diagnosed after consecutive screening in 58%, after 3.9 ± 2.5 (max 10) years (p < 0.001).Conclusion: Future screening policies for relatives of celiac patients should include retesting, especially in HLA-positive relatives younger than 10 years of age. In addition, one-time celiac-specific antibody testing alone could be sufficient to rule out the disease in adolescent siblings and parents of newly diagnosed celiac patients. What is Known: • Celiac disease is more prevalent in first-degree relatives of celiac patients (risk 3-12%). • HLA-DQ2 homozygous sisters/daughters are at highest risk (25%). What is New: • If younger than 10 years of age, repeated testing is necessary in HLA-DQ2/DQ8-positive first-degree relatives when celiac disease is diagnosed in a family. • One-time celiac-specific antibody testing alone could be sufficient to rule out the disease in adolescent siblings and parents of newly diagnosed celiac patients.

HLA‐DQB1*02 allele in children with celiac disease: Potential usefulness for screening strategies

“…Due to the prevalence of CD and the considerable number of children with subclinical and/or extra‐intestinal manifestations, the opportunity to implement widened screening strategies is currently debated (Bjorck, Brundin, Lorinc, Lynch, & Agardh, ; Poddighe, ; Wessels et al, ).…”

Genetics Of Gluten Intolerance

“…При други етнически групи тя се среща по-рядко. Роднините от първа степен на хора с цьолиакия имат 10% риск за изява на това заболяване (3,4), като степента на конкордантност i е 50% -80% при монозиготните близнаци и 10% при дизиготните близнаци (5). Основен рисков фактор за развитието на цьолиакия е носителството на специфични генетични варианти в HLA-DQA1 и HLA-DQB1 гени, като този риск се увеличава, ако индивидът е от женски пол (6).…”

“…"Позитивните" индивиди ще трябва да направят серологични тестове за антитела, последвано от допълнителни тестове, за да се потвърди диагнозата. За деца под 10 години се препоръчва провеждане на няколко последователни серологични изследвания, докато за юноши и възрастни е достатъчно само еднократно изследване (3).…”

Testing for IgA anti-tissue transglutaminase in routine clinical practice: Requesting behaviour in relation to prevalence of positive results

“…Next, the test may also be used for screening of individuals at risk for development of coeliac disease, i.e. , first degree relatives, patients with autoimmune diseases associated with overlapping HLA-types, and patients with Down’s, Turner’s or Williams’ syndrome [ [15] , [16] , [17] , [18] , [19] , [20] , [21] , [22] ]. Although it is anticipated that many patients with coeliac disease are not identified as such, referred to as the iceberg phenomenon [ 23 ], there is overall consensus that population screening is not warranted.…”