Celiac disease (CD) is an autoimmune disease that is caused by interaction of gluten in genetically predisposed individuals.
Diagnosis of Celiac Disease
Testing for total IgA and TGA-IgA as initial screening in children with suspected CD is recommended. In patients with low total IgA concentrations, an IgG-based test (DGP, EMA or TGA) should be performed as a second step. Testing for EMA, DGP or AGA antibodies (IgG and IgA) as initial screening in clinical practice is not recommended. Upper GI endoscopy with duodenal biopsies is mandatory in diagnosing Celiac in most circumstances. At least four biopsies from the distal duodenum and at least one from the duodenal bulb should be taken for histology assessment during a gluten-containing diet.
Is A Biopsy must?
As per the 2019 ESPGHAN guidelines, HLA-DQ2 and DQ8 typing is not required in patients with positive TGA-IgA, if they qualify for CD diagnosis with biopsies or have high serum TGA-IgA (≥10xULN) and EMA-IgA positivity (No biopsy approach). In children with TGA ≥10X ULN, and parents/patient agreement to the no-biopsy approach, the CD diagnosis should be confirmed by a positive EMA-IgA test in a second blood sample. HLA- typing does not add to the certainty of the diagnosis if the other criteria for CD diagnosis are fulfilled. CD can be diagnosed without duodenal biopsies in asymptomatic children, using the same criteria as in patients with symptoms.