Children with Celiac-Affected First-degree Relatives Should be Screened Early in Life

Celiac.com 06/20/2022 - Doctors currently recommend that first-degree relatives of those with celiac disease also get screened for the disease, but it's been unclear how often doctors should screen, or at what age.

A team of researchers recently set out to detect variables influencing the risk of celiac disease development so they can develop and validate clinical prediction models in order to provide individualized screening advice.

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The research team included Caroline R. Meijer; Renata Auricchio; Hein Putter; Gemma Castillejo; Paula Crespo; Judit Gyimesi; Corina Hartman; Sanja Kolacek; Sibylle Koletzko; Ilma Korponay-Szabo; Eva Martinez Ojinaga; Isabel Polanco; Carmen Ribes-Koninckx; Raanan Shamir; Hania Szajewska; Riccardo Troncone; Vincenzo Villanacci; Katharina Werkstetter; and M. Luisa Mearin.

The team analyzed ten years of follow-up data from the PreventCD-birth cohort, which enrolled nearly a thousand genetically predisposed children with celiac-affected first-degree relatives. The researchers combined significant variables for celiac risk to establish a risk score, and performed landmark analyses at different ages to create prediction models using multivariable Cox proportional hazards regression analyses, backward elimination, and Harrell’s c-index for discrimination. They used data from the independent NeoCel cohort to validate their findings. 

Their results show that the children with celiac-affected first-degree relatives develop celiac disease early in life, and that the main risk factors are gender, age and HLA-DQ genetic markers, which are all important for sound screening advice. 

According to the researchers children with celiac-affected first-degree relatives should be screened early in life, which should also include HLA-DQ2/8–typing. Anyone genetically predisposed to celiac disease should get more personalized screening advice using the team's Prediction application.

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