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

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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.

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Abbreviations

CD:

Celiac disease

EMA:

Endomysium antibodies

FDR:

First-degree relative

TG2A:

Transglutaminase type 2 antibodies

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Acknowledgements

We wish to acknowledge the support of Drs. Bianca Baten, trial coordinator at Rijnstate Hospital, and Jean McKenzie for the English language editing.

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Authors and Affiliations

Authors

Contributions

Dr. Wessels conceptualized and designed the study, collected data, carried out the initial analyses, coordinated and supervised data collection, drafted the initial manuscript, and reviewed and revised the manuscript. Dr. de Rooij collected data, carried out the initial analyses, drafted the initial manuscript, and critically reviewed the manuscript. Mrs. Roovers was involved in the design of the study, carried out the initial analyses, and critically reviewed and revised the manuscript. Dr. Verhage conceptualized the study, collected data, and reviewed and revised the manuscript. Dr. de Vries designed the data collection instruments, collected data, and reviewed and revised the manuscript. Dr. Mearin conceptualized and designed the study, supervised data collection, and reviewed and revised the manuscript. All authors approve the final manuscript as submitted and agree to be accountable for all aspects of the work.

Corresponding author

Correspondence to Margaretha M. S. Wessels.

Ethics declarations

The procedures followed were in accordance with the ethical standards of the Medical Research Involving Human Subjects Act and the principles of the declaration of Helsinki (59th General assembly, Seoul, October 2008) of the World Medical Association. Formal approval from the local feasibility committee of Rijnstate Hospital Arnhem was obtained.

Conflict of interest

The authors declare that they have no conflict of interest.

Informed consent

Formal approval from the local feasibility committee of Rijnstate Hospital Arnhem was obtained; informed consent of patients was due to the nature of the study not necessary.

Additional information

Communicated by Peter de Winter

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Wessels, M.M.S., de Rooij, N., Roovers, L. et al. Towards an individual screening strategy for first-degree relatives of celiac patients. Eur J Pediatr 177, 1585–1592 (2018). https://doi.org/10.1007/s00431-018-3199-6

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  • DOI: https://doi.org/10.1007/s00431-018-3199-6

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