Objective: To study the prevalence of Celiac disease (CD) in first-degree relatives (FDR) of CD children.

Methods: This observational study was performed in FDR (parents and siblings) of consecutive newly diagnosed cases of CD enrolled from January 2011 through March 2012. Screening for CD in FDR was done using IgA tissue transglutaminase (tTG) levels in serum and the seropositive subset underwent upper gastrointestinal (UGI) endoscopy and biopsy to confirm the disease. In addition, HLA analysis for CD was performed in most of the index cases and FDR.

Results: Of 202 FDR of the 64 index cases with CD, 17.3 % (35/202) were seropositive for IgA tTG while confirmed biopsy proven CD was diagnosed in 10.2 % (8/78) of children and 8.1 % (10/124) of adults. HLA DQ2/DQ8 was positive in 96.7 % of the index cases and all FDR with confirmed CD.

Conclusions: The prevalence of CD among FDR is 9 fold higher than the general population. High prevalence of CD in presence of anemia and short stature in seropositive FDR in index study indicates need of targeted screening of this subgroup for the presence of CD.CD is unlikely in the absence of HLADQ2/DQ8.

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