Non-Biopsy Serology-Based Diagnosis of Celiac Disease in Adults Is Accurate with Different Commercial Kits and Pre-Test Probabilities.

Venla Ylönen,Marleena Repo,Katri Lindfors,Päivi Saavalainen,Kaija Laurila,Katri Kaukinen,Kalle Kurppa,Valma Fuchs,Heini Huhtala,Alex Musikka

doi:10.3390/nu12092736

Abstract

Non-biopsy diagnosis of celiac disease is possible in children with anti-transglutaminase 2 antibodies (TGA) > 10× the upper limit of normal (ULN) and positive anti-endomysial antibodies (EMA). Similar criteria have been suggested for adults, but evidence with different TGA assays is scarce. We compared the performance of four TGA tests in the diagnosis of celiac disease in cohorts with diverse pre-test probabilities. Serum samples from 836 adults with either clinical suspicion or family risk of celiac disease were tested with four commercial TGA assays, EmA and celiac disease-associated genetics. The diagnosis was set based on duodenal lesion or, in some cases, using special methods. 137 (57%) patients with clinical suspicion and 85 (14%) of those with family risk had celiac disease. Positive predictive value (PPV) for 10×ULN was 100% in each TGA test. The first non-diagnostic investigations were encountered with ULN 1.0×–5.1× in the clinical cohort and 1.3×–4.9× in the family cohort, respectively. Using the assays’ own cut-offs (1×ULN) the PPVs ranged 84–100%. Serology-based diagnosis of celiac disease was accurate in adults using different commercial kits and pre-test probabilities using 10×ULN. The results also suggest that the ULN threshold for biopsy-omitting approach could be lower.

Highlights

The estimated true prevalence of celiac disease is 1–3% [1,2], emphasizing the importance of efficient and practical diagnostic strategy for this common condition
We investigated this issue by applying four widely used commercial transglutaminase antibodies (TGA) tests in two large and well-defined cohorts of adults with either clinical suspicion or family risk of celiac disease
The two study cohorts had comparable median ages, while there was a female predominance in the clinical cohort compared with the almost even gender distribution in the family cohort (Table 1)

Summary

Introduction

The estimated true prevalence of celiac disease is 1–3% [1,2], emphasizing the importance of efficient and practical diagnostic strategy for this common condition. Diagnosis of a life-long disease must be based on solid evidence. This has long been achieved by demonstrating characteristic mucosal damage in duodenal biopsy, but such a histology-based approach is invasive. Only a few-and exclusively pediatric-studies have directly compared the accuracy of non-biopsy approach for celiac disease with different TGA assays [9]. We investigated this issue by applying four widely used commercial TGA tests in two large and well-defined cohorts of adults with either clinical suspicion (high pre-test probability) or family risk (moderate pre-test probability) of celiac disease

Methods

Results

Conclusion