Sensitivity of Serologic Markers in Celiac Disease in Children 2 Years Old or Younger

Abstract

Introduction: Celiac disease (CD) is common immune mediated disorder that affects up to 1% of the general population in North America and Europe. Screening for CD starts with highly sensitive Immunoglobulin A (IgA) based serologic markers like anti-tissue transglutaminase antibodies (anti-TTG IgA) or endomysial antibodies (EMA). (3). However, it has been suggested that IgA based TTG or EMA are not as sensitive in younger children. We aimed to assess the sensitivity of positive IgA based serologic markers in children 2 year old or younger and to assess how many of the children with negative serology ended up with confirmed CD diagnosis. Methods: We performed retrospective chart review of the Mayo Clinic electronic medical records between 1997 and 2018. We included all children 2 year old and younger who have CD documented in their medical charts (clinical notes or pathology report listing CD as a differential diagnosis). Patients' age, clinical notes, labs, and pathology records were reviewed to confirm CD diagnosis based on NASPGHAN or ESPGHAN guideline. This study was approved by the Mayo Clinic's IRB. Results: We identified 60 children with CD documented in their charts (clinical notes or pathology reports), 41 (68%) were females with an average age (SD) of 21.6 months (7.9). Forty one (68%) were ≤ 24 months at the time of CD investigation with positive family history of CD in 15 (25%) of them. Of the 60 children, 42 (70%) children met the diagnostic criteria of CD (39 NASPGHAN and 3 ESPGHAN) while the remaining 18 children didn't meet the diagnostic criteria. All children with confirmed CD diagnosis had positive celiac serology markers {33 TTG-IgA, 1 TGG-IGG (IgA deficient) and 8 EMA (prior to TTG era)}, while in the children without CD, 17 had negative serology and 1 had positive TTGIgA. Fifty six (93%) children (39 confirmed CD and 17 without CD) underwent endoscopic assessment. The most common indication for endoscopic assessment and SBB was failure to thrive in 21(35%), followed by diarrhea in 16(27%) and abdominal pain in 7 (12%). Children with confirmed CD had partial villous atrophy (VA) in 8 children and complete VA in 34 children, while the unconfirmed cases 2 had normal SBB. Conclusion: IgA based serologic markers are sensitive screening test even in children 2 year old or younger with sufficient IgA level. Cases of negative serologic marker didn't meet diagnostic criteria on small bowel biopsy and were unlikely to be diagnosed with CD later in life.