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Second Screening for Celiac Disease in First-Degree Relatives of Pediatric Index Cases: A Single-Center Observational
Selcuk Teke1, Yasin Maruf Ergen1, Birce Izgi Akcay1
1Division of Pediatric Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, Gülhane Training and Research Hospital, Health Science University, Ankara, Türkiye.
Insights
Repeat screening for celiac disease (CD) in relatives of pediatric patients can detect new cases. This is especially true for children initially screened at a young age, improving early diagnosis.
Area of Science:
- Pediatric Gastroenterology
- Immunology
- Genetics
Background:
- Celiac disease (CD) diagnosis in children requires careful screening of high-risk family members.
- First-degree relatives of pediatric CD patients are at increased risk for developing the condition.
- Initial screening may miss cases that develop later or are present asymptomatically.
Purpose of the Study:
- To investigate the incidence of new seropositivity in first-degree relatives of pediatric celiac disease patients.
- To assess the effectiveness of repeat screening in detecting celiac disease in seronegative relatives.
- To determine if early childhood screening impacts future celiac disease detection.
Main Methods:
- A single-center, observational, family-based screening study.
- Included first-degree relatives of 117 pediatric index cases with biopsy-confirmed CD.
- Utilized tissue transglutaminase immunoglobulin A and G for serology, followed by endoscopy and biopsy for diagnosis.
Main Results:
- Of 376 initial participants, 5.6% showed seropositivity and 5.0% had biopsy-confirmed CD.
- Among 101 relatives with initial negative serology undergoing repeat screening, 3.9% developed new seropositivity, all confirmed by biopsy.
- Three of the four new cases were siblings screened in early childhood.
Conclusions:
- First-degree relatives of pediatric CD patients are a high-risk group for developing celiac disease over time.
- Repeat screening is valuable for detecting new cases of celiac disease in this population.
- Screening relatives, especially those initially tested in early childhood, can enhance celiac disease case detection.
Objective:
This study investigated new seropositivity detected during repeat screening among first-degree relatives of pediatric index cases with celiac disease (CD) who were seronegative at initial screening.
Materials And Methods:
This single-center, observational, family-based screening study was conducted at a tertiary pediatric gastroenterology center. First-degree relatives of 117 pediatric index cases with biopsy-confirmed CD were invited for screening. CD screening was performed using tissue transglutaminase immunoglobulin A, with tissue transglutaminase immunoglobulin G used in cases of low total immunoglobulin A. Individuals with seropositivity underwent upper gastrointestinal endoscopy with duodenal biopsy. Histopathologic findings were evaluated according to the Marsh classification. Among participants with negative initial serology, those whose first screening had been performed at least 1 year earlier underwent repeat serologic screening.
Results:
Of the 462 invited first-degree relatives, 376 participated in the initial screening. Seropositivity was detected in 5.6% of participants, and biopsy-confirmed CD was established in 5.0%. Among the 355 individuals with negative initial serology, 101 underwent repeat screening after a median interval of 3.0 years. New seropositivity was detected in 4 of these 101 individuals [3.9%; exact binomial 95% CI: 1.1-9.8], and all had biopsy-confirmed CD. Three of the newly identified cases were siblings who had been screened in early childhood. No significant association was found between the presence of symptoms and serologic positivity at either screening.
Conclusion:
First-degree relatives of pediatric patients with CD represent a high-risk group in whom new seropositivity may emerge over time. Repeat screening, particularly in relatives first screened during early childhood, may improve case detection.
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