Celiac disease (CeD), also called coeliac disease, is a serious autoimmune disease diagnosed through a combination of both blood testing and biopsy. Serology (blood) testing looks for high levels of certain antibody proteins that indicate an immune response to gluten. Once the results of a blood test are positive, doctors will order an endoscopy, where a small intestinal tissue sample (biopsy) is taken.  

A recent study, featured in MedPage Today and published in The Lancet Journal of Gastroenterology & Hepatology, sought to determine the accuracy of blood (serological) tests in CeD diagnosis in adults.  

How did they do it? 

In the study, 436 adult participants (age 18 and over) with suspected celiac disease who were not on a gluten-free diet and who had a serological blood test result underwent a biopsy. The study measured the reliability of blood tests for CeD diagnosis as defined by duodenal villous atrophy (damage to the small intestine lining). The accuracy of serum tests for the prediction of small intestine lining damage was determined using statistical analyses.  

What did they find? 

Positive blood test results were found in 363 participants and 73 had negative results. Researchers found that serum testing confirmed 348 true positives (participants with CeD), 66 true negatives (participants without CeD), 15 false positives (participants without CeD whose blood tests were positive, and biopsy was negative), and 7 false negatives (participants with CeD whose blood test was negative, but the biopsy was positive).  

Based on the results, these researchers propose that a biopsy may not be necessary and could be avoided in the CeD diagnosis process in adults.

What does this mean? What does this change? 

The results of this study are interesting, to say the least. There are pros and cons to bypassing the endoscopy/biopsy in the CeD diagnosis process. Examples of benefits the researchers offered include less pressure on endoscopy clinics, reduced costs, and limiting invasive procedures for patients. Dr. Robert Anderson, President of the International Society for the Study of Celiac Disease and recipient of the 2023 Celiac Disease Foundation Prize for Excellence in Celiac Disease Research, provided expert commentary on the matter. “Although Ciacci and colleagues as well as authors of several other similar but retrospective studies have argued the performance and operational benefits of serology only diagnosis, these come at a cost to patients. Avoiding biopsy is attractive for healthcare systems with insufficient endoscopy services and in patients who cannot access specialist services due to cost or supply.” Dr. Anderson continued, “European experts have advocated for a tiered approach to diagnosis with repeated very high transglutaminase IgA levels being sufficient for diagnosis in adults and children, but in other patients with lower or normal levels of transglutaminase IgA additional tests appear to be necessary to rule in or rule out celiac disease.”  

Experts advise that CeD diagnosis with biopsy should remain the standard, for the time being. 

Keep reading to learn more about the study or view Dr. Anderson’s expert commentary. 

Watch a video discussing a study about standardizing celiac disease diagnostics from Denis Chang, MD, who spoke at Celiac Smarts. 

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